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
ARFIP1	27236	broad.mit.edu	37	4	153809310	153809310	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:153809310G>A	uc003imz.3	+	7	1093	c.817G>A	c.(817-819)Gat>Aat	p.D273N	ARFIP1_uc003inb.3_Missense_Mutation_p.D241N|ARFIP1_uc003ina.3_Missense_Mutation_p.D241N|ARFIP1_uc003inc.3_Missense_Mutation_p.D273N|ARFIP1_uc011cij.2_Missense_Mutation_p.D93N	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.	273	AH.				intracellular protein transport|regulation of protein secretion	Golgi membrane|cytosol			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					ATATCGCACTGATTTGGAAGA	0.383000														49			8		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325322	158325322	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:158325322G>A	uc001fse.3	+	2	881	c.588G>A	c.(586-588)ggG>ggA	p.G196G	CD1E_uc010pid.2_Silent_p.G194G|CD1E_uc010pie.2_Silent_p.G97G|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Silent_p.G196G|CD1E_uc001fsf.3_Silent_p.G196G|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Silent_p.G97G|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Silent_p.G196G|CD1E_uc001frz.3_Intron|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.	196	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.G196E(1)		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)					TTCTAGCGGGGCTCATGGAAG	0.478000														16			27		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062935	170062935	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:170062935C>T	uc002ues.3	-	38	7508	c.7295G>A	c.(7294-7296)aGa>aAa	p.R2432K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2432					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GAAGTAGATTCTATCACTTAC	0.423000														35			10		0	0	1	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756632	54756632	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:54756632G>A	uc010yot.1	+	0	274	c.150G>A	c.(148-150)aaG>aaA	p.K50K	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		AGCGGCCCAAGACACTGAGAC	0.517000														52			9		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143036677	143036677	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:143036677C>T	uc003wcr.1	+	13	1632	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	CLCN1_uc011ktc.1_Silent_p.I127I	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	515					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGATGACATCATCTACAAGA	0.438000														65			29		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11384956	11384956	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:11384956G>A	uc003jfa.1	-	6	1143	c.998C>T	c.(997-999)tCg>tTg	p.S333L	CTNND2_uc010itt.2_Missense_Mutation_p.S242L|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|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.	333					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						GGTGGGGGGCGAGGTCACGCG	0.687000														21			7		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21932218	21932218	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:21932218C>T	uc003svc.3	+	77	12735	c.12704C>T	c.(12703-12705)aCt>aTt	p.T4235I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4235					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTTCAGAACTTTGCTGGAG	0.473000									Kartagener syndrome					38			24		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2818684	2818684	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:2818684C>T	uc022aqr.1	-	61	10071	c.9681G>A	c.(9679-9681)caG>caA	p.Q3227Q	CSMD1_uc011kwj.2_Silent_p.Q2557Q|CSMD1_uc010lrg.3_Silent_p.Q1119Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3228	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)		TGGAGCTATTCTGTATTCCAA	0.348000														12			10		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10307662	10307662	+	Silent	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10307662T>C	uc002gmm.2	-	21	2768	c.2673A>G	c.(2671-2673)caA>caG	p.Q891Q	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	891					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.L890L(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAACCTGGAGTTGCAGGTCAT	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					35			15		0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50544992	50544992	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:50544992C>T	uc002prn.3	+	3	379	c.142C>T	c.(142-144)Cca>Tca	p.P48S	ZNF473_uc002prm.3_Missense_Mutation_p.P48S|ZNF473_uc010ybo.2_Missense_Mutation_p.P36S	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	48	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGCAGACCCCCCAAGACCCAA	0.567000														78			22		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44168965	44168965	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:44168965G>A	uc003bdy.2	-	3	472	c.158C>T	c.(157-159)cCa>cTa	p.P53L	EFCAB6_uc003bdz.2_Intron|EFCAB6_uc010gzi.2_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.P50L|EFCAB6_uc003beb.4_Intron	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGACAGTGTTGGATTTGCAAC	0.388000														34			24		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54920357	54920357	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:54920357C>T	uc001sgc.4	+	20	2281	c.2202C>T	c.(2200-2202)atC>atT	p.I734I	NCKAP1L_uc010sox.2_Silent_p.I276I|NCKAP1L_uc010soy.2_Silent_p.I684I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	734					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						CCCAGGAGATCGTACGGCCTT	0.448000														52			20		0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14029594	14029594	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:14029594C>T	uc002dce.2	+	7	1814	c.1805C>T	c.(1804-1806)cCt>cTt	p.P602L	ERCC4_uc010uyz.1_Missense_Mutation_p.P152L	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	602					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						CCTGGGAAACCTCTGAGGCAA	0.418000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					65			17		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187122362	187122362	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:187122362G>A	uc003iyw.4	+	6	1157	c.853G>A	c.(853-855)Gat>Aat	p.D285N		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	285					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CTGTAGAGGTGATGGCAGGGG	0.463000														41			12		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24902892	24902892	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:24902892G>A	uc003sxf.3	-	8	1202	c.797C>T	c.(796-798)cCc>cTc	p.P266L	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Intron|OSBPL3_uc003sxg.3_Missense_Mutation_p.P266L|OSBPL3_uc003sxh.3_Intron|OSBPL3_uc003sxi.3_Intron|OSBPL3_uc003sxj.1_Missense_Mutation_p.P31L|OSBPL3_uc003sxk.1_Intron	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	266					lipid transport		lipid binding|protein binding	p.S265N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTCCTTTTTGGGACTTTCAAA	0.458000														52			36		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957389	35957389	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:35957389C>T	uc003jjv.2	-	4	1169	c.976G>A	c.(976-978)Gga>Aga	p.G326R	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.G326R|UGT3A1_uc011cor.2_Missense_Mutation_p.G292R	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	326						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATATCACTCCTTGAGGGAGG	0.507000														51			12		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:19455440C>T	uc002dgc.4	+	3	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_uc010vaq.2_Missense_Mutation_p.R276C|TMC5_uc002dgb.4_Missense_Mutation_p.R276C|TMC5_uc010var.2_Missense_Mutation_p.R276C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000														56			23		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24655657	24655658	+	Splice_Site	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:24655657_24655658CC>TT	uc001wmv.1	-	10	1862	c.841_splice	c.e10-1	p.A281_splice	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Splice_Site|IPO4_uc001wmw.1_Splice_Site|IPO4_uc010tnz.1_Splice_Site|IPO4_uc001wmx.1_Splice_Site_p.A145_splice|IPO4_uc001wmy.1_Splice_Site_p.A145_splice|IPO4_uc001wmz.2_Splice_Site_p.A281_splice	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	281					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TTCAGTAAGGCCTTGACAGAGA	0.540000														88			29		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854537	12854537	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:12854537G>A	uc001auj.2	+	2	864	c.761G>A	c.(760-762)cGg>cAg	p.R254Q		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	254								p.G253G(1)		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)		CTCCAAGGACGGTTAGTTGCC	0.438000														148			42		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237057714	237057714	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:237057714C>T	uc001hyi.4	+	29	3685	c.3262C>T	c.(3262-3264)Ccc>Tcc	p.P1088S	MTR_uc010pxw.2_Missense_Mutation_p.P681S|MTR_uc010pxx.2_Missense_Mutation_p.P1037S|MTR_uc010pxy.2_Missense_Mutation_p.P942S	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	1088	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTTCATCGCTCCCTTGCATTC	0.562000														113			14		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20790147	20790147	+	Missense_Mutation	SNP	A	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:20790147A>C	uc001reh.2	+	8	2155	c.2115A>C	c.(2113-2115)agA>agC	p.R705S	PDE3A_uc021qwa.1_Missense_Mutation_p.R383S	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	705					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATATAGGAAGAAAATGTGGCC	0.343000														20			7		0	0	1	0	0
YEATS4	8089	broad.mit.edu	37	12	69764716	69764716	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:69764716C>T	uc001sux.3	+	5	696	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C		NM_006530	NP_006521	O95619	YETS4_HUMAN	Homo sapiens YEATS domain containing 4 (YEATS4), mRNA.	159				R -> C (in Ref. 2; CAC01935).	histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GACAACATCTCGTCAGCTAAC	0.343000														58			22		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65509424	65509424	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:65509424C>T	uc003xvj.2	-	5	1500	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	432					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCAGCTTTTTCCCTCTTTTGA	0.333000														25			13		0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138863333	138863333	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:138863333G>A	uc003vus.2	+	13	1345	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	TTC26_uc011kqn.1_Missense_Mutation_p.E411K|TTC26_uc011kqo.1_Missense_Mutation_p.E380K|TTC26_uc011kqp.1_Missense_Mutation_p.E306K|TTC26_uc003vut.2_Missense_Mutation_p.E271K|TTC26_uc011kqq.1_Missense_Mutation_p.E280K	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	411							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CAATACCAGTGAGGGCGAAGA	0.378000														71			10		0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74093955	74093955	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:74093955G>A	uc002jqs.3	-	4	657	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	EXOC7_uc010dgv.2_Silent_p.L135L|EXOC7_uc010wsv.2_Silent_p.L147L|EXOC7_uc010wsw.2_Silent_p.L188L|EXOC7_uc002jqq.3_Silent_p.L188L|EXOC7_uc010wsx.2_Silent_p.L188L|EXOC7_uc002jqr.3_Silent_p.L188L|EXOC7_uc002jqu.2_Silent_p.L188L	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	188					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGGTGCTCCAGGGTCACGTCC	0.602000														125			20		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282254	152282254	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152282254G>A	uc001ezu.1	-	2	5144	c.5108C>T	c.(5107-5109)tCa>tTa	p.S1703L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1703	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTACAGATGAATCTTGTCT	0.572000									Ichthyosis					683			93		0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58021583	58021583	+	Missense_Mutation	SNP	C	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:58021583C>A	uc001spg.1	-	9	1634	c.1202G>T	c.(1201-1203)aGc>aTc	p.S401I	B4GALNT1_uc010sru.2_Missense_Mutation_p.S346I	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	401					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGCTCCACGCTCAGCAGCTG	0.711000														11			3		1	1	1	1	0
DPP9	91039	broad.mit.edu	37	19	4682740	4682740	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:4682740G>A	uc002mba.3	-	19	2700	c.2442C>T	c.(2440-2442)tcC>tcT	p.S814S	LOC100131094_uc021ung.1_Intron	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	785					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCAGGGCCACGGAACCCGCCT	0.657000														12			4		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828971	76828971	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:76828971C>T	uc003ugb.3	-	0	180	c.140G>A	c.(139-141)gGg>gAg	p.G47E	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	47					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTCGCATTTCCCTCTGCTTTC	0.493000														75			56		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625327	140625327	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140625327G>A	uc003lje.3	+	0	181	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCTAGCCGAGCGGGGAGC	0.552000														63			20		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111981904	111981904	+	Missense_Mutation	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:111981904A>G	uc003dyu.3	-	9	1286	c.1064T>C	c.(1063-1065)gTt>gCt	p.V355A	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.V307A	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	355					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTCATGACCAACTCGAGACAA	0.368000														67			10		0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175986250	175986250	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:175986250G>A	uc002ujl.3	-	4	383	c.121C>T	c.(121-123)Cat>Tat	p.H41Y	ATF2_uc002ujv.3_5'UTR|ATF2_uc002ujm.3_Intron|ATF2_uc002uju.3_Intron|ATF2_uc002ujn.3_Intron|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_Missense_Mutation_p.H41Y|ATF2_uc010fqu.3_Missense_Mutation_p.H23Y|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_Intron|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_Missense_Mutation_p.S15L|ATF2_uc002ujw.1_Intron|ATF2_uc002ujx.1_Non-coding_Transcript|ATF2_uc002ujy.1_Missense_Mutation_p.H41Y	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	41					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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			ACAGCCAAATGATCCTCGTTG	0.313000														36			10		0	0	1	0	0
FSCN2	25794	broad.mit.edu	37	17	79503604	79503604	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:79503604G>A	uc010wuo.2	+	3	1275	c.1134G>A	c.(1132-1134)ggG>ggA	p.G378G	FSCN2_uc010wup.2_Intron	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.	368					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTGGACAGGGAAGGTGGCGG	0.692000														23			9		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101168390	101168390	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:101168390C>T	uc004ays.3	-	7	1730	c.1270G>A	c.(1270-1272)Ggg>Agg	p.G424R		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	424				G -> E (in Ref. 5; AAD30389).	negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTAATGGTCCCCATTCTCTCC	0.333000														50			11		0	0	1	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652465	234652465	+	Missense_Mutation	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:234652465T>C	uc002vuz.3	-	0	197	c.98A>G	c.(97-99)gAc>gGc	p.D33G	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	33	J.				protein folding		heat shock protein binding|unfolded protein binding										AGGGTTTTTGTCGGGGTGCCA	0.592000														152			40		0	0	1	0	0
C20orf160	140706	broad.mit.edu	37	20	30602799	30602799	+	Silent	SNP	G	A	A	rs145192423		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:30602799G>A	uc002wxf.2	+	1	136	c.123G>A	c.(121-123)tcG>tcA	p.S41S		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	41								p.S41L(1)		central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						CCCTGCACTCGATGCCCCTTT	0.642000														128			29		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204394141	204394141	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:204394141C>T	uc001haw.3	-	33	5223	c.4744G>A	c.(4744-4746)Gac>Aac	p.D1582N	PIK3C2B_uc010pqv.2_Missense_Mutation_p.D1554N	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1582	C2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGCTGCAGGTCACCCTTGGGG	0.572000														48			5		0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99817587	99817587	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:99817587G>A	uc003uue.2	+	2	426	c.54G>A	c.(52-54)gaG>gaA	p.E18E	GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|GATS_uc011kjl.2_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Silent_p.E18E	NM_024070	NP_076975	Q6DKI7	PVRIG_HUMAN	Homo sapiens poliovirus receptor related immunoglobulin domain containing (PVRIG), mRNA.	18						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGACTGGAGGGGGCCATGG	0.647000														6			3		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	6885221	6885221	+	Missense_Mutation	SNP	C	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:6885221C>G	uc001aoi.3	+	2	392	c.185C>G	c.(184-186)cCg>cGg	p.P62R	CAMTA1_uc021ofq.1_Missense_Mutation_p.P62R|CAMTA1_uc021ofr.1_Non-coding_Transcript|CAMTA1_uc001aoh.3_Missense_Mutation_p.P62R	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAATGTCTGCCGAAATGTTCA	0.323000			T	WWTR1	epitheliod hemangioendothelioma									45			20		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62202043	62202043	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:62202043G>A	uc002yfm.2	-	2	1349	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	PRIC285_uc002yfl.1_5'Flank|PRIC285_uc002yfn.2_Missense_Mutation_p.L153F	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	153					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CTTACCACAAGGACCTCACTG	0.682000														21			7		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784663	140784663	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140784663G>A	uc003lkh.2	+	0	2144	c.2144G>A	c.(2143-2145)aGg>aAg	p.R715K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.R715K	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	707					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)			CTGGCCCTCAGGCTGAGGCAC	0.602000														68			31		0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77623902	77623902	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:77623902C>T	uc010xfl.2	+	0	235	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	79					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GTGCGCCTTCCGCGCCATCGT	0.711000														13			4		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133233743	133233743	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:133233743G>A	uc001uks.1	-	28	3605	c.3561C>T	c.(3559-3561)ttC>ttT	p.F1187F	POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.F1160F	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1187					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCTCCAGGGTGAAGAGCTCAC	0.567000								DNA polymerases (catalytic subunits)						85			16		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5424222	5424222	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:5424222C>T	uc002gci.3	-	13	4449	c.3894G>A	c.(3892-3894)ggG>ggA	p.G1298G	NLRP1_uc002gcg.1_Silent_p.G1302G|NLRP1_uc002gch.4_Intron|NLRP1_uc002gck.3_Intron|NLRP1_uc002gcj.3_Silent_p.G1268G|NLRP1_uc002gcl.3_Intron	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1298					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTTCCAGCATCCCTGAACCAG	0.532000														7			3		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181546919	181546919	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:181546919G>A	uc009wxt.3	+	3	725	c.530G>A	c.(529-531)gGa>gAa	p.G177E	CACNA1E_uc001gow.3_Missense_Mutation_p.G177E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G177E|CACNA1E_uc009wxr.3_Missense_Mutation_p.G84E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	177					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCCACTGCAGGAACCCACTTC	0.577000														20			5		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748646	64748646	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:64748646C>T	uc003jtp.3	-	4	1545	c.731G>A	c.(730-732)aGa>aAa	p.R244K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	244					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCTCACTGATCTCTTCTGTCT	0.428000														85			24		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57353893	57353893	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:57353893C>T	uc003xsz.2	-	1	823	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	PENK_uc003xta.3_Missense_Mutation_p.E248K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	248					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.G247G(2)|p.E248K(2)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GAGTAACTTTCGCCTTCTTCG	0.502000														106			62		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525671	76525671	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:76525671C>T	uc010dhp.2	-	21	3515	c.3390G>A	c.(3388-3390)atG>atA	p.M1130I		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTTGACTTTCATCAGGTGCC	0.562000														126			28		0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31016149	31016149	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:31016149C>T	uc021wbw.1	+	5	827	c.395C>T	c.(394-396)tCg>tTg	p.S132L	ASXL1_uc002wxr.2_Non-coding_Transcript|ASXL1_uc002wxs.3_Missense_Mutation_p.S131L|ASXL1_uc010geb.3_Missense_Mutation_p.S74L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	132					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.S132S(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAAACATCTTCGAACGCATCC	0.488000			"""F, N, Mis"""		"""MDS, CMML"""									131			63		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707465	96707465	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:96707465G>A	uc010avm.1	+	2	996	c.800G>A	c.(799-801)aGg>aAg	p.R267K	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.R240K|BDKRB2_uc001yfg.2_Missense_Mutation_p.R267K	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	267					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ACAGAGAGGAGGGCCACGGTG	0.567000														37			9		0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684804	44684804	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:44684804C>T	uc003cnm.3	+	5	2388	c.2182C>T	c.(2182-2184)Cat>Tat	p.H728Y	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	728					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TCAGAAACTCCATACACAAGA	0.433000														124			30		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145038046	145038046	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:145038046C>T	uc003ijo.4	-	4	434	c.318G>A	c.(316-318)acG>acA	p.T106T	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Silent_p.T73T|GYPA_uc003ijp.4_Silent_p.T74T|GYPA_uc010ioq.3_Silent_p.T93T|GYPA_uc010ior.3_Silent_p.T41T|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	106					interspecies interaction between organisms	membrane fraction	receptor activity	p.T106T(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTAAGAGGATCGTTCCAATAA	0.358000														103			17		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216230322	216230322	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:216230322C>T	uc002vfa.3	-	42	7316	c.7050G>A	c.(7048-7050)aaG>aaA	p.K2350K	FN1_uc002vfc.3_Silent_p.K2113K|FN1_uc002vfe.3_Silent_p.K2228K|FN1_uc002vff.3_Silent_p.K2203K|FN1_uc002vfg.3_Silent_p.K2169K|FN1_uc002vfh.3_Silent_p.K2049K|FN1_uc002vfi.3_Silent_p.K2319K|FN1_uc002vfj.3_Silent_p.K2140K|FN1_uc002vfb.3_Silent_p.K2138K|FN1_uc002vez.3_Silent_p.K513K|FN1_uc010zjp.2_Silent_p.K887K|FN1_uc002vfk.1_Non-coding_Transcript|FN1_uc010fva.1_Non-coding_Transcript|FN1_uc010fvb.1_Non-coding_Transcript	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	2259					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	p.D2349N(1)	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)	TCTCTCCAATCTTGTAGTTCA	0.463000														92			25		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160662618	160662618	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:160662618C>T	uc003qtf.3	-	9	1563	c.1389_splice	c.e9-1	p.R463_splice		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	463			R -> K (in dbSNP:rs3907239).		body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CGCCAAGATTCCTAGAATGCA	0.443000														11			4		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981578	7981578	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:7981578C>T	uc001mfv.1	-	1	1598	c.1581G>A	c.(1579-1581)tcG>tcA	p.S527S		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	527							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)		GCTCCAAGTTCGAGAAGCTGT	0.443000														45			12		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942234	12942234	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:12942234C>T	uc001aun.2	-	2	387	c.316G>A	c.(316-318)Gat>Aat	p.D106N		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	106										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		TCCTGTAAATCCAGCACTTGA	0.458000														106			24		0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2893683	2893683	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:2893683C>T	uc003mug.3	-	4	650	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_5'Flank	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	177					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTGTATGTTTCGTCAAACGGT	0.398000														149			24		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242139641	242139641	+	Splice_Site	SNP	G	A	A	rs150724018		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:242139641G>A	uc002wax.2	+	6	819	c.716_splice	c.e6+1	p.R239_splice		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	239						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGCTGCCACGGTAAGGCAGGG	0.607000														29			7		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81528669	81528669	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:81528669G>A	uc001szl.1	+	2	622	c.531G>A	c.(529-531)atG>atA	p.M177I	ACSS3_uc001szm.1_Missense_Mutation_p.M176I	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	177						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACATGCCTATGATCCCACAGG	0.458000														29			12		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50089776	50089776	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:50089776C>T	uc004dox.4	+	9	4078	c.3780C>T	c.(3778-3780)atC>atT	p.I1260I	CCNB3_uc004doy.3_Silent_p.I1260I|CCNB3_uc004doz.3_Silent_p.I156I|CCNB3_uc010njq.3_Silent_p.I152I|CCNB3_uc004dpa.3_Silent_p.I99I	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1260					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ACATTCCCATCGCCTACCATT	0.433000														10			18		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74625132	74625132	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:74625132G>A	uc002axo.3	+	15	2278	c.1884G>A	c.(1882-1884)ctG>ctA	p.L628L	CCDC33_uc002axp.3_Silent_p.L450L|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.L221L|CCDC33_uc002axr.3_Silent_p.L221L	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	831							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGACGGAGCTGGATAAGAACC	0.612000														90			24		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924234	227924234	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:227924234C>T	uc021vxr.1	-	26	2371	c.2270G>A	c.(2269-2271)gGa>gAa	p.G757E	COL4A4_uc021vxs.1_Missense_Mutation_p.G757E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	757	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCGGGATTCCTTTCTGACC	0.607000														111			28		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49032908	49032908	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:49032908C>T	uc003gyv.3	+	10	1621	c.1439C>T	c.(1438-1440)aCc>aTc	p.T480I	CWH43_uc011bzl.2_Missense_Mutation_p.T453I	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	480					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AATGACTTAACCATGTGGCTA	0.418000														90			34		0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306795	129306795	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:129306795G>A	uc001qfc.4	+	1	387	c.337G>A	c.(337-339)Ggc>Agc	p.G113S		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	113										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGCCCCAGGGGGCGAGGCCCT	0.682000														22			10		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914447	39914447	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:39914447C>T	uc010xuz.2	+	18	2999	c.2674C>T	c.(2674-2676)Ccc>Tcc	p.P892S	PLEKHG2_uc010xuy.2_Missense_Mutation_p.P833S|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.P670S	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	892					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	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAGTCTGTCCCCCTGGGTCC	0.567000														68			19		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79629650	79629650	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:79629650C>T	uc003ybd.3	+	8	1002	c.900C>T	c.(898-900)tgC>tgT	p.C300C		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	300																	CAAAATTCTGCCATGAGTGTG	0.373000														164			36		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33905432	33905432	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:33905432C>T	uc001zhi.3	+	18	2283	c.2213C>T	c.(2212-2214)tCg>tTg	p.S738L	RYR3_uc010bar.3_Missense_Mutation_p.S738L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	738	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCCTGAGATCGGATGACGTG	0.572000														23			4		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39674840	39674840	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:39674840G>A	uc002hwy.3	-	0	431	c.240C>T	c.(238-240)ggC>ggT	p.G80G	KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	80	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.G79fs*57(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				cccctccaaagcctccaccga	0.557000														114			35		0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113675304	113675304	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:113675304C>T	uc002tij.3	+	3	400	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	IL37_uc002tim.3_Missense_Mutation_p.L59F|IL37_uc002tik.3_Missense_Mutation_p.L99F|IL37_uc002til.3_Missense_Mutation_p.L80F|IL37_uc002tin.3_Missense_Mutation_p.L94F	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	120					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GGAGTTTTGTCTCTACTGTGA	0.478000														116			35		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684355	100684355	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:100684355G>A	uc003uxp.1	+	2	9711	c.9658G>A	c.(9658-9660)Gga>Aga	p.G3220R	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3220	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E3219K(1)		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)					TCCTAGTGAAGGAATGACTCC	0.488000														412			92		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053213	238053213	+	Silent	SNP	C	T	T	rs138002250		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:238053213C>T	uc001hym.3	-	2	641	c.354G>A	c.(352-354)aaG>aaA	p.K118K	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	118					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGTAACCACCTTGTGTTCAG	0.567000														333			175		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103927	53103927	+	Missense_Mutation	SNP	G	A	A	rs1689291		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:53103927G>A	uc003tpz.3	+	0	579	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	188			G -> E (in dbSNP:rs1689291).							endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCCCAAGGGAAGCGCTAGG	0.716000														103			25		0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993376	24993376	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:24993376C>T	uc001bjm.3	+	12	1923	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	SRRM1_uc010oel.2_Missense_Mutation_p.P579S|SRRM1_uc009vrh.1_Missense_Mutation_p.P540S|SRRM1_uc009vri.1_Missense_Mutation_p.P496S|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	567	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CGCCCCTCCTCCTCGACGGCG	0.542000														44			12		0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128628208	128628208	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:128628208G>A	uc003ela.4	+	14	1709	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	ACAD9_uc011bks.2_Missense_Mutation_p.E380K|ACAD9_uc003elb.3_Missense_Mutation_p.E380K|ACAD9_uc003ele.3_Missense_Mutation_p.E155K	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 9 (ACAD9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	503						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CAAGTTTGAGGAGAACACCTA	0.587000														77			14		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66433646	66433646	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:66433646G>A	uc003dmx.3	-	14	2265	c.2251C>T	c.(2251-2253)Cag>Tag	p.Q751*	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Nonsense_Mutation_p.Q371*|LRIG1_uc003dmw.3_Nonsense_Mutation_p.Q417*|LRIG1_uc010hnz.3_Nonsense_Mutation_p.Q467*|LRIG1_uc010hoa.3_Nonsense_Mutation_p.Q728*	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	751	Ig-like C2-type 3.					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)		ACCACGTTCTGAACCACCAGG	0.657000														76			14		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413359	178413359	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:178413359G>A	uc003mjr.3	-	7	2075	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.F215F|GRM6_uc003mjs.1_Silent_p.F252F	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	632					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		CGTAGATGAGGAAGATGCCGG	0.662000														38			16		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231652	21231652	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:21231652C>T	uc002red.3	-	25	8216	c.8088G>A	c.(8086-8088)ctG>ctA	p.L2696L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2696					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)	CCTCCACCTTCAGATCCCTGA	0.438000														126			32		0	0	1	0	0
DEFB128	245939	broad.mit.edu	37	20	168662	168662	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:168662C>T	uc002wcz.1	-	1	147	c.147G>A	c.(145-147)ggG>ggA	p.G49G		NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	Homo sapiens defensin, beta 128 (DEFB128), mRNA.	49					defense response to bacterium	extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AACATAATTTCCCACTTAGAC	0.388000														145			76		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55889867	55889867	+	Missense_Mutation	SNP	G	A	A	rs148197076		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:55889867G>A	uc001nii.1	+	0	19	c.19G>A	c.(19-21)Gac>Aac	p.D7N		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TAGAAGGAATGACACAAATGT	0.458000														105			34		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89171280	89171280	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:89171280C>T	uc021ryf.1	-	12	2224	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	EML5_uc021ryg.1_Missense_Mutation_p.E659K|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	659						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTTGTTTCTCTTTGCACTGT	0.318000														42			6		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50964915	50964915	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:50964915G>A	uc009xog.3	-	1	397	c.363C>T	c.(361-363)gtC>gtT	p.V121V	OGDHL_uc001jie.3_Silent_p.V94V|OGDHL_uc010qgt.2_Intron|OGDHL_uc010qgu.2_Intron|OGDHL_uc009xoh.2_5'UTR	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	94					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGCTCTCATGGACAACAGAAG	0.592000														65			15		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657416	46657416	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:46657416C>T	uc003bhh.3	-	0	1804	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	602	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGTGCAAATCAGAAACAATT	0.413000														90			21		0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127950744	127950744	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:127950744G>A	uc002tod.2	-	6	1059	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	CYP27C1_uc021vnn.1_Missense_Mutation_p.P310S	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	310						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TGACCAAAGGGGATGGATCCA	0.557000														38			20		0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85571211	85571211	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:85571211G>A	uc002spd.3	-	8	1635	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	RETSAT_uc010fge.3_Intron|RETSAT_uc010ysm.2_Missense_Mutation_p.R421W	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	482					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TCACTGCCCCGCTTTCCCTTC	0.542000														59			15		0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6644007	6644008	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:6644007_6644008GG>AA	uc001qop.1	+	1	111_112	c.9_10GG>AA	c.(7-12)aaggtg>aaAAtg	p.V4M	GAPDH_uc021qtv.1_5'Flank	NM_002046	NP_002037	P04406	G3P_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase (GAPDH), mRNA.	4	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	CCATGGGGAAGGTGAAGGTCGG	0.703000														59			8		0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18194300	18194300	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:18194300G>A	uc002gsx.1	-	11	1552	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_5'UTR|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Silent_p.F339F	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	441					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.F441F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGCAAGCCAGGAAATGGCGAA	0.537000														54			17		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141946119	141946119	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:141946119C>T	uc002tvj.1	-	6	1856	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	295					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)		ATAGAGATTTCGAGTGAGCCA	0.408000										TSP Lung(27;0.18)				22			10		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198668750	198668750	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:198668750C>T	uc001gur.1	+	4	530	c.350C>T	c.(349-351)tCt>tTt	p.S117F	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.S53F|PTPRC_uc009wzf.1_Missense_Mutation_p.S53F|PTPRC_uc021pgy.1_Missense_Mutation_p.S119F|PTPRC_uc010ppg.1_Missense_Mutation_p.S53F|PTPRC_uc001guu.1_Missense_Mutation_p.S160F|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Non-coding_Transcript	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	117					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGACGCCCTCTGCTGGAACT	0.547000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		168			101		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24491904	24491904	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:24491904C>T	uc003jgr.2	-	10	2163	c.1657G>A	c.(1657-1659)Gga>Aga	p.G553R	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	553	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTATTGAATCCATTTTTTCTG	0.358000										HNSCC(23;0.051)				12			5		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280503	152280503	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152280503C>T	uc001ezu.1	-	2	6895	c.6859G>A	c.(6859-6861)Gaa>Aaa	p.E2287K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2287	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.552000									Ichthyosis					586			81		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785203	82785203	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:82785203G>A	uc003uhx.2	-	1	1043	c.754C>T	c.(754-756)Cca>Tca	p.P252S	PCLO_uc003uhv.2_Missense_Mutation_p.P252S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	252	Gln-rich.|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						CCTGTACCTGGAGGTTGTGAT	0.473000														49			9		0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156237363	156237364	+	Missense_Mutation	DNP	CC	TT	TT	rs138984099	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:156237363_156237364CC>TT	uc001foc.4	-	9	1163_1164	c.1014_1015GG>AA	c.(1012-1017)gaggat>gaAAat	p.D339N		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	339					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCCTCCTCATCCTCACTGGCCA	0.535000														66			42		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156294386	156294386	+	Missense_Mutation	SNP	G	A	A	rs149700830		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:156294386G>A	uc003ios.3	-	3	647	c.383C>T	c.(382-384)tCt>tTt	p.S128F	MAP9_uc011cin.2_Missense_Mutation_p.S128F|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Missense_Mutation_p.S128F|MAP9_uc010iqb.2_Missense_Mutation_p.S56F	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	128					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTCAGAGAAAGATTTTACAAC	0.338000														38			10		0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65618258	65618258	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:65618258G>A	uc001ofr.3	+	5	662	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	179					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GGAGCTCCTCGGAGGGTTTCT	0.587000														28			11		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10249208	10249208	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10249208G>A	uc002mng.3	-	33	4154	c.3974C>T	c.(3973-3975)cCt>cTt	p.P1325L	DNMT1_uc002mnf.3_Missense_Mutation_p.P249L|DNMT1_uc010xlc.2_Missense_Mutation_p.P1341L|DNMT1_uc002mnh.3_Missense_Mutation_p.P1220L|DNMT1_uc010xld.2_Missense_Mutation_p.P1325L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1325	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CGGGAACAGAGGGAGCTTCTC	0.642000														57			12		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112614442	112614442	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:112614442C>T	uc021reb.1	-	64	11422	c.11026G>A	c.(11026-11028)Gat>Aat	p.D3676N		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TCCTTTTCATCTGGTTTGCTC	0.483000														57			4		0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45537541	45537541	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:45537541C>T	uc021uvq.1	+	9	1378	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L	RELB_uc021uvp.1_Missense_Mutation_p.P413L	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	416	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P416P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CGGGGGATGCCCGACGTCCTT	0.547000														46			22		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190555	58190555	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:58190555G>A	uc010rkg.2	-	0	232	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTTACTGAGGAAAAAGTACA	0.502000														91			26		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124036432	124036432	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:124036432G>A	uc001lgc.1	+	2	396	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	BTBD16_uc001lgd.1_Missense_Mutation_p.E48K	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	49										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AGACTTTGAGGAAGCTTTGAG	0.557000														45			14		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168096932	168096932	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:168096932C>T	uc010jjg.3	-	34	4633	c.4213G>A	c.(4213-4215)Gga>Aga	p.G1405R	SLIT3_uc003mab.3_Missense_Mutation_p.G1398R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1398					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)			AAGTCCCCTCCATAGCCCTCG	0.542000														50			8		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121097679	121097679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:121097679C>T	uc003eec.4	+	21	2505	c.2365C>T	c.(2365-2367)Cga>Tga	p.R789*	STXBP5L_uc011bji.2_Nonsense_Mutation_p.R765*	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	789					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.R789*(2)		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)		ACCACCATTTCGAAAGGCCCA	0.403000														36			8		0	0	1	0	0
MYL7	58498	broad.mit.edu	37	7	44178582	44178582	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:44178582C>T	uc003tkg.3	-	6	478	c.466G>A	c.(466-468)Ggg>Agg	p.G156R		NM_021223	NP_067046	Q01449	MLRA_HUMAN	Homo sapiens myosin, light chain 7, regulatory (MYL7), mRNA.	156	EF-hand 3.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TCGATGTTCCCCGCCAGGTCC	0.622000														78			10		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170232728	170232728	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:170232728G>A	uc003mau.3	+	6	748	c.550G>A	c.(550-552)Gat>Aat	p.D184N	GABRP_uc011dev.2_Missense_Mutation_p.D184N	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	184						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGGGCTATGATGGAAATGA	0.502000														28			7		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8620596	8620596	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:8620596C>T	uc002mkg.3	-	1	226	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	MYO1F_uc010xkf.2_Missense_Mutation_p.E30K	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	30	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATGGCGTCTTCGGTGATCTGG	0.617000														73			18		0	0	1	0	0
SPDYE5	442590	broad.mit.edu	37	7	75124523	75124523	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:75124523G>A	uc011kfy.2	+	0	225	c.89G>A	c.(88-90)aGg>aAg	p.R30K		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	30																	GGCTGGAAAAGGAAGAGGGAG	0.577000														56			10		0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117061419	117061419	+	Nonsense_Mutation	SNP	C	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:117061419C>A	uc001pqg.2	+	18	1802	c.1761C>A	c.(1759-1761)tgC>tgA	p.C587*	SIDT2_uc010rxe.1_Nonsense_Mutation_p.C566*|SIDT2_uc001pqh.1_Nonsense_Mutation_p.C566*|SIDT2_uc001pqi.1_Nonsense_Mutation_p.C563*	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	566						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCAGTGCTTGCTATCATGTGT	0.537000														8			4		0.014758	0.0147761	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10470146	10470146	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:10470146G>A	uc003wtc.3	-	3	1691	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	488					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)		GCCCCTATCTGGGCAGAGGGG	0.716000														34			27		0	0	1	0	0
DNAH14	127602	broad.mit.edu	37	1	225155151	225155151	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:225155151G>A	uc001how.2	+	5	732	c.517G>A	c.(517-519)Gga>Aga	p.G173R	DNAH14_uc001hou.4_Missense_Mutation_p.G173R|DNAH14_uc001hot.4_Missense_Mutation_p.G173R|DNAH14_uc001hov.4_Missense_Mutation_p.G173R	NM_001373	NP_001364	Q0VDD8	DYH14_HUMAN	Homo sapiens dynein, axonemal, heavy chain 14 (DNAH14), transcript variant 1, mRNA.	300					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GGAAGATGATGGAGAATTTGT	0.299000														108			60		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021142	5021142	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:5021142C>T	uc010qyu.2	+	0	930	c.930C>T	c.(928-930)gtC>gtT	p.V310V		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V310L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAAGTTTGTCCTAAGGAGGA	0.403000														48			20		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1906863	1906863	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:1906863C>T	uc002qxe.3	-	13	2848	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E	MYT1L_uc002qxd.3_Missense_Mutation_p.G672E|MYT1L_uc010ewl.2_Intron	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	674					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATCATCATATCCTTTGGGGGA	0.423000														60			15		0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57828946	57828946	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:57828946G>A	uc001snv.1	+	0	404	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	93					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GGACAACAGGGAACAGGAATG	0.552000														24			11		0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58631268	58631268	+	Silent	SNP	G	A	A	rs144804892		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:58631268G>A	uc003dkq.3	-	4	528	c.231C>T	c.(229-231)gtC>gtT	p.V77V		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	77					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		TAGGGCCCACGACGTTGGCGG	0.408000														34			10		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76912604	76912604	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:76912604G>A	uc001oyb.2	+	35	5236	c.4964G>A	c.(4963-4965)aGg>aAg	p.R1655K	MYO7A_uc010rsm.1_Missense_Mutation_p.R1606K|MYO7A_uc001oyc.2_Missense_Mutation_p.R1617K|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.R827K|MYO7A_uc001oye.2_5'Flank	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1655	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATCAATGAGAGGACCAAGCAG	0.607000														38			14		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57131659	57131659	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:57131659G>A	uc003dil.3	-	11	2161	c.2072C>T	c.(2071-2073)tCc>tTc	p.S691F	IL17RD_uc003dik.3_Missense_Mutation_p.S667F|IL17RD_uc010hna.3_Missense_Mutation_p.S547F|IL17RD_uc011bex.1_Missense_Mutation_p.S547F	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	691						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CTCCGTCAGGGAAGACGTTTC	0.587000														12			4		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8608532	8608532	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:8608532C>T	uc003glm.3	+	5	1149	c.975C>T	c.(973-975)ttC>ttT	p.F325F	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.F314F|CPZ_uc003gln.3_Silent_p.F188F	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	325					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCGAAATTTCCCGGACCTGA	0.647000														67			20		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931901	155931901	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:155931901G>A	uc001fmu.2	-	13	1601	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	ARHGEF2_uc001fmr.2_Missense_Mutation_p.S377F|ARHGEF2_uc001fms.2_Missense_Mutation_p.S404F|ARHGEF2_uc001fmt.2_Missense_Mutation_p.S405F|ARHGEF2_uc010pgt.1_Missense_Mutation_p.S378F|ARHGEF2_uc010pgu.1_Missense_Mutation_p.S450F	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	405					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCACCGTGGGAATGCTGCAG	0.642000														126			24		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149520464	149520464	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:149520464G>A	uc010lpk.3	+	91	13273	c.13273G>A	c.(13273-13275)Gag>Aag	p.E4425K	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4428					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTCCCTTTGAGTTCCATGC	0.652000														161			18		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33739544	33739544	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:33739544G>A	uc001uuw.3	-	2	379	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	STARD13_uc001uuu.3_Missense_Mutation_p.P77S|STARD13_uc001uuv.3_5'UTR|STARD13_uc001uux.3_Missense_Mutation_p.P50S|STARD13_uc010abh.1_Missense_Mutation_p.P70S|STARD13_uc021rhz.1_Missense_Mutation_p.P77S|STARD13_uc021ria.1_5'UTR	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	85	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ATGTTGATGGGAAATTGTGAA	0.363000														35			9		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45522840	45522840	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:45522840C>T	uc002zea.3	+	21	3697	c.3528C>T	c.(3526-3528)tcC>tcT	p.S1176S	TRAPPC10_uc010gpo.3_Silent_p.S887S|TRAPPC10_uc011afa.2_Silent_p.S554S	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1176					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CACACTCCTCCCAACTGGACG	0.522000														72			20		0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987520	50987520	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:50987520C>T	uc003bmi.3	+	0	1059	c.925C>T	c.(925-927)Cct>Tct	p.P309S		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	309										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGGAGCCTCCTGCGGCGGC	0.746000														66			52		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71197007	71197007	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:71197007C>T	uc010ukf.2	+	4	734	c.428C>T	c.(427-429)tCg>tTg	p.S143L	LRRC49_uc002asu.3_Missense_Mutation_p.S128L|LRRC49_uc002asx.3_Missense_Mutation_p.S94L|LRRC49_uc002asw.3_Missense_Mutation_p.S138L|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Missense_Mutation_p.S110L	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	138						cytoplasm|microtubule		p.S138L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGTTAATATCGTTGGATTTA	0.358000														108			23		0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350688	135350688	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:135350688C>T	uc001lnj.1	+	6	1122	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	CYP2E1_uc001lnk.1_Silent_p.L226L|CYP2E1_uc009ybl.1_Silent_p.L164L|CYP2E1_uc009ybm.1_Silent_p.L17L|CYP2E1_uc001lnl.1_Silent_p.L164L	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	363					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TCATCACCCTCGTGCCCTCCA	0.542000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					51			20		0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39475066	39475067	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:39475066_39475067GG>AA	uc021wpr.1	+	1	440_441	c.147_148GG>AA	c.(145-150)ttggac>ttAAac	p.D50N	APOBEC3F_uc003awx.3_Missense_Mutation_p.D50N|APOBEC3F_uc003awy.3_5'Flank	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	50					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGCCCCCTTTGGACGCAAAGAT	0.505000														54			12		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899037	233899037	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:233899037C>T	uc010zmn.2	+	1	413	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	138							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		ACCTGGAGCTCCCCCAGAGAC	0.647000														48			7		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43855557	43855557	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:43855557C>T	uc001cjk.2	+	1	1	c.-2609_splice	c.e1-1		MED8_uc001cje.1_5'Flank|MED8_uc001cjg.4_5'Flank|MED8_uc001cjf.4_5'Flank|SZT2_uc001cjh.3_Splice_Site|SZT2_uc001cji.1_Splice_Site|SZT2_uc009vws.1_Splice_Site	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCCGGTTCCTGCTGGGTG	0.627000														15			5		0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483667	59483667	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:59483667C>T	uc002lih.1	-	1	442	c.30G>A	c.(28-30)ctG>ctA	p.L10L	RNF152_uc021ula.1_Silent_p.L10L	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	10					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)				TCTGACATTCCAGCAGAGAGT	0.592000														114			32		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494463	7494463	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:7494463G>A	uc003bqm.2	+	5	1618	c.1344G>A	c.(1342-1344)ttG>ttA	p.L448L	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.L448L|GRM7_uc003bql.2_Silent_p.L448L|GRM7_uc003bqn.1_Silent_p.L31L|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	448					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCAAGAAGTTGCTGAAGTATA	0.438000														17			6		0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59599192	59599192	+	Missense_Mutation	SNP	G	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:59599192G>C	uc001noi.3	-	7	1199	c.1151C>G	c.(1150-1152)aCa>aGa	p.T384R		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	384					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTGCCAGTATGTCTTGTGATT	0.363000														61			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476580	179476580	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179476580C>T	uc021vsy.1	-	216	42977	c.42752G>A	c.(42751-42753)gGa>gAa	p.G14251E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G7946E|TTN_uc021vta.1_Missense_Mutation_p.G7879E|TTN_uc021vtb.1_Missense_Mutation_p.G7754E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15178	Fibronectin type-III 3.						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)			GACCTCTGTTCCTTCGATGAC	0.458000														84			27		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833195	61833195	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:61833195C>T	uc001jky.3	-	36	7782	c.7444G>A	c.(7444-7446)Gaa>Aaa	p.E2482K	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.	2482					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						GTAACCGATTCCTCAGTATCA	0.458000														65			27		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440185	124440185	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:124440185C>T	uc010san.2	+	0	221	c.221C>T	c.(220-222)aCc>aTc	p.T74I		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T74I(2)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		CAGCTGCACACCCCCATGTAC	0.498000														86			20		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23825111	23825111	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:23825111C>T	uc003sws.4	+	17	2230	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	STK31_uc003swt.4_Silent_p.L698L|STK31_uc011jze.2_Silent_p.L721L|STK31_uc010kuq.3_Silent_p.L698L|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	721	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGGTGGTCTCCTTACAATGA	0.393000														115			34		0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718472	101718472	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:101718472G>A	uc021sxt.1	-	2	2006	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S	CHSY1_uc010usd.2_Silent_p.S238S	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	510					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTTCTTCAGGGAGTTTGAGA	0.463000														56			19		0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224318205	224318205	+	Missense_Mutation	SNP	G	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:224318205G>T	uc001hoh.2	+	1	340	c.299G>T	c.(298-300)aGa>aTa	p.R100I	FBXO28_uc009xef.2_Missense_Mutation_p.R100I|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	Homo sapiens F-box protein 28 (FBXO28), transcript variant 1, mRNA.	100	F-box.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GTCTGCCAGAGAATGTTGAAT	0.373000														75			56		2.73361e-28	2.76075e-28	1	1	0
RNASEL	6041	broad.mit.edu	37	1	182555609	182555609	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:182555609G>A	uc009wxz.2	-	1	590	c.333C>T	c.(331-333)ttC>ttT	p.F111F	RNASEL_uc001gpk.3_Silent_p.F111F|RNASEL_uc009wya.1_Silent_p.F111F	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	111					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTTTAGAAAGGAAAAGTTTCA	0.483000														28			31		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930172	46930172	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:46930172G>A	uc003bhw.1	-	0	2896	c.2896C>T	c.(2896-2898)Ctt>Ttt	p.L966F		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	966	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGCCCAAAGGTTGTACACG	0.607000														124			27		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160205548	160205548	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:160205548C>T	uc002uao.3	-	28	5512	c.5107G>A	c.(5107-5109)Gat>Aat	p.D1703N	BAZ2B_uc002uap.3_Missense_Mutation_p.D1667N	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTAGGAAAATCTACTGGTTTT	0.388000														70			12		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614757	36614757	+	Missense_Mutation	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:36614757T>C	uc021qge.1	-	0	962	c.962A>G	c.(961-963)aAc>aGc	p.N321S	RAG2_uc021qgc.1_Missense_Mutation_p.N321S|RAG2_uc021qgd.1_Missense_Mutation_p.N321S|RAG2_uc001mwv.4_Missense_Mutation_p.N321S|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.	321					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)				ATTTCCCATGTTGCTTCCAAA	0.388000									Familial Hemophagocytic Lymphohistiocytosis					159			44		0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125292381	125292381	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:125292381G>A	uc001ugp.3	-	6	1188	c.935C>T	c.(934-936)tCc>tTc	p.S312F	SCARB1_uc001ugm.4_Missense_Mutation_p.S312F|SCARB1_uc001ugn.4_Missense_Mutation_p.S312F|SCARB1_uc010tbd.2_Missense_Mutation_p.S312F|SCARB1_uc001ugo.4_Missense_Mutation_p.S312F	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	312					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TGGGTAGATGGACCCGTTGGC	0.567000														66			18		0	0	1	0	0
ZNF101	94039	broad.mit.edu	37	19	19788737	19788737	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:19788737C>T	uc002nni.2	+	1	178	c.68C>T	c.(67-69)cCt>cTt	p.P23L	ZNF101_uc010ecg.2_5'UTR|ZNF101_uc002nnj.2_5'UTR	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TTGCTGAGTCCTTCCCAGAAG	0.522000														87			27		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720248	95720249	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:95720248_95720249GG>AA	uc009xuj.2	-	0	1424_1425	c.905_906CC>TT	c.(904-906)ccc>cTT	p.P302L						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		GAGCCTTTTGGGGGGCTGGTCT	0.515000														40			10		0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1417621	1417621	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:1417621C>T	uc001afv.3	+	5	719	c.618C>T	c.(616-618)atC>atT	p.I206I	ATAD3B_uc001afw.2_Silent_p.I160I|ATAD3B_uc001afx.3_Silent_p.I160I	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	206							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATGCAGACATCATCCGCGAGC	0.672000														40			10		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37415691	37415691	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:37415691C>T	uc002rpu.3	-	1	1	c.-20_splice	c.e1-1		SULT6B1_uc010yni.2_Splice_Site|SULT6B1_uc002rpv.3_Intron|SULT6B1_uc010fae.2_Intron|SULT6B1_uc010faf.2_Intron|SULT6B1_uc002rpw.3_Intron|SULT6B1_uc010fag.2_Intron	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.							cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				AAGGAATCCCCTGATAGGTGA	0.418000														59			24		0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27240231	27240231	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:27240231G>A	uc002hdg.1	-	8	1888	c.1358C>T	c.(1357-1359)cCt>cTt	p.P453L	PHF12_uc010wbb.1_Missense_Mutation_p.P435L|PHF12_uc002hdi.1_Missense_Mutation_p.P449L|PHF12_uc002hdj.1_Missense_Mutation_p.P453L|PHF12_uc010crw.1_Missense_Mutation_p.P156L|PHF12_uc002hdh.1_Missense_Mutation_p.P236L	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	453	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCAATGCGAAGGCATCTGCTT	0.498000														139			25		0	0	1	0	0
TREH	11181	broad.mit.edu	37	11	118532174	118532174	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:118532174C>T	uc001pty.1	-	6	707	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	TREH_uc009zaj.1_Missense_Mutation_p.R190Q|TREH_uc001ptz.1_Missense_Mutation_p.R98Q|TREH_uc009zak.3_Missense_Mutation_p.R221Q	NM_007180	NP_009111	O43280	TREA_HUMAN	Homo sapiens trehalase (brush-border membrane glycoprotein) (TREH), mRNA.	221					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		GGGCTGGCTCCGCTGCAGGTA	0.597000														22			8		0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28858691	28858691	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:28858691C>T	uc001bqb.2	+	6	669	c.270C>T	c.(268-270)tcC>tcT	p.S90S	RCC1_uc001bqa.2_Silent_p.S90S|RCC1_uc001bqc.2_Silent_p.S90S|RCC1_uc001bqe.2_Silent_p.S107S|RCC1_uc001bqf.2_Silent_p.S121S|RCC1_uc001bqg.2_Silent_p.S90S	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	90					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding	p.Y89C(1)		breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTCTATTCCTTCGGCTGCA	0.567000														17			5		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24413179	24413179	+	Missense_Mutation	SNP	C	T	T	rs140144262		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:24413179C>T	uc001bin.4	-	14	1916	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	MYOM3_uc001bim.4_Missense_Mutation_p.D242N|MYOM3_uc001bio.3_Missense_Mutation_p.D585N|MYOM3_uc001bip.1_Missense_Mutation_p.D242N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	585	Fibronectin type-III 2.							p.D585N(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCGAGGGATCGCTCAGGCCA	0.632000														55			16		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118598420	118598420	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:118598420C>T	uc001ehk.2	-	18	2726	c.2658G>A	c.(2656-2658)ttG>ttA	p.L886L	SPAG17_uc021oss.1_Intron	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	886						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAGAAGATTTCAATTCCAGCT	0.308000														37			5		0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40001459	40001459	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:40001459C>T	uc001rmb.2	-	2	1604	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	393	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTAAATTTCGAGCAGTGGT	0.323000														85			22		0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306709	129306709	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:129306709C>T	uc001qfc.4	+	1	301	c.251C>T	c.(250-252)tCc>tTc	p.S84F		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	84										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ACTGTCATCTCCCACCTGGTC	0.677000														77			30		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535102	50535102	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:50535102G>A	uc001zxz.3	-	11	1686	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	HDC_uc001zxy.3_Silent_p.F191F|HDC_uc010uff.2_Silent_p.F415F	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	448					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ATGTCACAGTGAAACGGATGA	0.473000														45			13		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7059828	7059828	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:7059828C>T	uc001mfb.1	+	1	334	c.11C>T	c.(10-12)tCa>tTa	p.S4L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	4	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGGCAGATTCATCATCATCT	0.368000														66			25		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96795092	96795092	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:96795092G>A	uc001yfi.3	-	12	2258	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	631										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTTTGGAATGGAACGTTAAAA	0.358000														43			5		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100198206	100198206	+	Missense_Mutation	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:100198206T>C	uc011kjz.1	+	9	1609	c.1541T>C	c.(1540-1542)aTc>aCc	p.I514T	FBXO24_uc003uvm.1_Missense_Mutation_p.I476T|FBXO24_uc003uvn.1_Missense_Mutation_p.I114T|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.I464T|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	476						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCCTATACATCCTGTCCAGC	0.647000														121			32		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998772	120998772	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:120998772G>A	uc003eec.4	+	18	2219	c.2079G>A	c.(2077-2079)cgG>cgA	p.R693R	STXBP5L_uc011bji.2_Silent_p.R693R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	693					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)		GACAACCACGGTCTCCTCGAA	0.388000														50			8		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904576	74904576	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:74904576C>T	uc001owb.3	+	8	1784	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	SLCO2B1_uc010rrq.2_Silent_p.I208I|SLCO2B1_uc010rrr.2_Silent_p.I319I|SLCO2B1_uc010rrs.2_Silent_p.I347I|SLCO2B1_uc001owc.3_Silent_p.I236I|SLCO2B1_uc001owd.3_Silent_p.I441I	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	463					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TCTTCTTTATCGGCTGCTCCA	0.627000														28			7		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139209810	139209810	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:139209810G>A	uc003yuy.3	-	7	943	c.772C>T	c.(772-774)Cac>Tac	p.H258Y	FAM135B_uc003yux.3_Missense_Mutation_p.H159Y|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	258										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)			ACCAGGAAGTGGAGACGGAGA	0.607000										HNSCC(54;0.14)				59			26		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296074	20296074	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:20296074C>T	uc010tkv.2	+	0	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGTCCACTCCATTATCCAG	0.532000														296			34		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32077661	32077661	+	Missense_Mutation	SNP	A	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:32077661A>C	uc003jhl.3	+	18	4019	c.3631A>C	c.(3631-3633)Aca>Cca	p.T1211P	PDZD2_uc003jhm.3_Missense_Mutation_p.T1211P|PDZD2_uc011cnx.1_Missense_Mutation_p.T1037P	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1211					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGCCACCTCACAGAGAACCT	0.507000														69			8		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284195	152284195	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152284195G>A	uc001ezu.1	-	2	3203	c.3167C>T	c.(3166-3168)tCt>tTt	p.S1056F	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1056	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGACTGCAGATGAAGCTTG	0.557000									Ichthyosis					540			357		0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15761225	15761225	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:15761225G>A	uc002rce.3	+	17	1720	c.1432G>A	c.(1432-1434)Ggt>Agt	p.G478S	DDX1_uc010yjq.1_Missense_Mutation_p.G386S|DDX1_uc021vee.1_Missense_Mutation_p.G397S	NM_004939	NP_004930	Q92499	DDX1_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 (DDX1), mRNA.	478	Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA/RNA helicase activity|RNA helicase activity|chromatin binding|exonuclease activity|poly(A) RNA binding|protein binding|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CACAAGACCTGGTGCTAATAG	0.338000														25			3		0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	A	A	rs28392876	by1000genomes	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:16946438G>A	uc010ocf.2	-	2		c.460C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000														27			5		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190032	233190032	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:233190032G>A	uc001hvl.2	-	24	4568	c.4333C>T	c.(4333-4335)Cga>Tga	p.R1445*	PCNXL2_uc001hvk.1_Nonsense_Mutation_p.R97*|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1445						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCAGTCCTCGAAGTTGAAAG	0.388000														54			6		0	0	1	0	0
SYNJ2BP-COX16	100529257	broad.mit.edu	37	14	70839802	70839802	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:70839802G>A	uc021rvn.1	-	3	471	c.344C>T	c.(343-345)cCa>cTa	p.P115L	SYNJ2BP-COX16_uc021rvm.1_Intron|SYNJ2BP-COX16_uc021rvo.1_Intron|SYNJ2BP-COX16_uc001xmc.4_Missense_Mutation_p.P115L	NM_001202547	NP_001189476			Homo sapiens SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16), transcript variant 1, mRNA.																		AATACCACTTGGGTCCCCTTC	0.458000														54			25		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77375683	77375683	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:77375683G>A	uc002ffc.4	-	10	2047	c.1628C>T	c.(1627-1629)tCa>tTa	p.S543L	ADAMTS18_uc010chc.1_Missense_Mutation_p.S131L|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S239L	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	543	Disintegrin.				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						GCACCAAAGTGATTTGCAAAT	0.373000														8			5		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200729	132200729	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:132200729C>T	uc002tst.2	-	0	1739	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TCCGAGTTCTCCTGAACCTTC	0.637000														19			3		0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13526231	13526231	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:13526231C>T	uc001rbs.2	-	2	576	c.324G>A	c.(322-324)aaG>aaA	p.K108K						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TCTGTCCACTCTTCAGCCTCT	0.488000														125			32		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33592401	33592401	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:33592401G>A	uc001rll.1	-	0	354	c.57C>T	c.(55-57)atC>atT	p.I19I	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	19						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)					GCTCGGTGACGATGTGCAGAG	0.572000														170			47		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156816430	156816430	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:156816430G>A	uc010pht.2	-	7	1990	c.1691C>T	c.(1690-1692)tCc>tTc	p.S564F	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	564	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGCTTGAGGGAGGCTAGGGT	0.612000														105			11		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103317392	103317392	+	Missense_Mutation	SNP	A	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:103317392A>C	uc003ykr.2	-	20	3203	c.2748T>G	c.(2746-2748)tgT>tgG	p.C916W	UBR5_uc003yks.2_Missense_Mutation_p.C916W	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	916					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GATTTCCATCACATCTGTGGC	0.393000														148			31		0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225609969	225609969	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:225609969G>A	uc001hoy.3	-	2	350	c.176C>T	c.(175-177)tCc>tTc	p.S59F	LBR_uc001hoz.3_Missense_Mutation_p.S59F	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	59	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTGCCTAAAGGAAGTTAAAGG	0.498000														43			4		0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8584303	8584303	+	Silent	SNP	C	T	T	rs35460303	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:8584303C>T	uc003glk.3	+	1	1207	c.714C>T	c.(712-714)cgC>cgT	p.R238R	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	238					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R238S(1)|p.R238H(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GCCGCCACCGCGCCACCAGGA	0.627000														104			14		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346753	48346753	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:48346753C>T	uc010rhv.2	+	0	261	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTATTTTTTCCTGGCCAACC	0.453000														86			10		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119466224	119466224	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:119466224G>A	uc001ehl.1	-	4	693	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	232						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGTGCAGAATGATCTGAAATA	0.413000														49			13		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698491	103698491	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:103698491C>T	uc001vpy.4	-	5	1636	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	347					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTCTACTTTTCGTCAGGTTGA	0.373000														39			20		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562446	136562446	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:136562446G>A	uc002tuu.1	-	9	4366	c.4355C>T	c.(4354-4356)tCc>tTc	p.S1452F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1452	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCGAGACCAGGAGATGGAAAA	0.552000														47			15		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127767577	127767577	+	Silent	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:127767577T>C	uc011ebs.2	-	4	2223	c.1887A>G	c.(1885-1887)ggA>ggG	p.G629G	KIAA0408_uc003qbc.3_Silent_p.G629G|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Intron|KIAA0408_uc003qbb.3_Silent_p.G512G	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	629							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)		TCGGATCTATTCCTTGCTTCA	0.398000														125			46		0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48246470	48246470	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:48246470G>A	uc002iqi.3	+	5	638	c.602G>A	c.(601-603)gGt>gAt	p.G201D	SGCA_uc010wmh.1_Missense_Mutation_p.G99D|SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Non-coding_Transcript|BC126901_uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	201					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.G201D(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ATTAAGGTGGGTTCTGCCTCA	0.577000											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			32		0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40692317	40692317	+	Missense_Mutation	SNP	G	A	A	rs138674524		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:40692317G>A	uc003jlz.3	+	2	1896	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	435					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGACTTTGCGAATATCAGAG	0.582000														26			4		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140616485	140616485	+	Missense_Mutation	SNP	T	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140616485T>G	uc003ljc.1	+	0	2548	c.2200T>G	c.(2200-2202)Ttc>Gtc	p.F734V						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGCCCCACCTTTCTGAATGGC	0.448000														23			6		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25532221	25532221	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:25532221G>A	uc002kwg.2	-	15	3076	c.2617C>T	c.(2617-2619)Ctt>Ttt	p.L873F	CDH2_uc010xbn.1_Missense_Mutation_p.L842F	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	873	Ser-rich.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGGAATTAAGGGAGCTCAAG	0.512000											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		88			25		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28660142	28660142	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:28660142C>T	uc002kwl.4	-	9	1894	c.1440G>A	c.(1438-1440)atG>atA	p.M480I	DSC2_uc002kwk.4_Missense_Mutation_p.M480I	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	480	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CATTTTCTTTCATGCGAACAG	0.418000														73			29		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906852	42906852	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:42906852C>T	uc003cme.3	+	2	1036	c.858C>T	c.(856-858)gtC>gtT	p.V286V	CCBP2_uc003cmf.3_Silent_p.V286V|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.V286V	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	286					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACTGTGAGGTCAGCCAGCATC	0.532000														189			56		0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112324446	112324446	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:112324446C>T	uc003dzf.3	-	7	2889	c.2671G>A	c.(2671-2673)Gat>Aat	p.D891N	CCDC80_uc011bhv.2_Missense_Mutation_p.D864N|CCDC80_uc003dzg.3_Missense_Mutation_p.D891N	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	891										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCAATTAAATCGTACACAATC	0.483000														51			13		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821419	26821419	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:26821419G>A	uc010wan.2	+	8	1411	c.1344G>A	c.(1342-1344)ggG>ggA	p.G448G	SLC13A2_uc010wam.2_Silent_p.G355G|SLC13A2_uc002hbh.3_Silent_p.G399G|SLC13A2_uc010wao.2_Silent_p.G356G|SLC13A2_uc002hbi.3_Silent_p.G328G	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	399						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AAAACCCAGGGAAGCTGAAGG	0.557000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			18		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212823	62212824	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:62212823_62212824CC>TT	uc003xuh.3	+	1	761_762	c.437_438CC>TT	c.(436-438)gcc>gTT	p.A146V	CLVS1_uc003xug.2_Missense_Mutation_p.A146V|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	146	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.A146A(2)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTGTTTGCAGCCAATTGGGATC	0.450000														42			17		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182853661	182853661	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:182853661C>T	uc003flh.4	-	4	1185	c.961G>A	c.(961-963)Gga>Aga	p.G321R		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	321					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGTTTGATTCCTTGGTAAATT	0.522000														249			62		0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3274321	3274321	+	Silent	SNP	A	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:3274321A>C	uc002cuj.2	-	4	1391	c.759T>G	c.(757-759)acT>acG	p.T253T	ZNF200_uc002cum.3_Silent_p.T252T|ZNF200_uc002cuk.2_Silent_p.T253T|ZNF200_uc010bti.2_Silent_p.T252T|ZNF200_uc002cui.2_Silent_p.T252T|ZNF200_uc002cul.3_Silent_p.T252T	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ACAGTGGACAAGTGTACCATC	0.423000														64			21		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238050775	238050775	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:238050775G>A	uc001hym.3	-	4	927	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	214	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R214L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGCCAAGCGCACAGAATCC	0.507000														113			20		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121976029	121976029	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:121976029G>A	uc003eew.4	+	2	725	c.287G>A	c.(286-288)aGg>aAg	p.R96K	CASR_uc003eev.4_Missense_Mutation_p.R96K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	96					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)	CTGGGATACAGGATATTTGAC	0.443000														82			17		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57071176	57071176	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:57071176C>T	uc021tiu.1	+	13	2908	c.2781C>T	c.(2779-2781)acC>acT	p.T927T	NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.T732T|NLRC5_uc021tiw.1_Silent_p.T732T|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	927					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CGTGCTGGACCCTGGCAGAGC	0.627000														51			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106691750	106691750	+	RNA	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:106691750C>T	uc021ser.1	-	1156		c.25243G>A								Parts of antibodies, mostly variable regions.																		TTGGCGTTGTCTCTGGAGATG	0.517000														161			45		0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39431045	39431045	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:39431045C>T	uc003cjo.2	+	1	530	c.129C>T	c.(127-129)ctC>ctT	p.L43L		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	Homo sapiens solute carrier family 25, member 38 (SLC25A38), nuclear gene encoding mitochondrial protein, mRNA.	43					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCTCTACCCTCCTTTTCCAAC	0.507000														58			22		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233806	28233806	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:28233806C>T	uc009xky.3	-	10	1570	c.1472G>A	c.(1471-1473)aGa>aAa	p.R491K	ARMC4_uc010qds.2_Missense_Mutation_p.R16K|ARMC4_uc010qdt.2_Missense_Mutation_p.R183K|ARMC4_uc001itz.3_Missense_Mutation_p.R491K|ARMC4_uc010qdu.1_Missense_Mutation_p.R183K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	491							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCAACATCTCTGATGGCCAA	0.458000														68			21		0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159076804	159076804	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:159076804G>A	uc003ipq.4	-	3	1515	c.1108C>T	c.(1108-1110)Cat>Tat	p.H370Y	FAM198B_uc003ipp.4_Missense_Mutation_p.H362Y|FAM198B_uc003ipr.4_Missense_Mutation_p.H362Y	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	362						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GACCACTCATGATGATGTATT	0.418000														33			9		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66250032	66250032	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:66250032G>A	uc002apm.2	-	9	1281	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	MEGF11_uc002apl.2_Silent_p.T305T|MEGF11_uc002apn.1_Silent_p.T380T	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	380						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CTGGCTGGCAGGTACAAGCTC	0.592000														36			9		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880630	200880630	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:200880630C>T	uc001gvo.3	+	8	1306	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	C1orf106_uc010ppm.2_Missense_Mutation_p.P337S	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	422										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CAGCGCCTTTCCCCGCCGCCG	0.662000														494			92		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54520288	54520288	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:54520288C>T	uc002iun.1	+	8	1137	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	368										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATGTGCCTCTCCTTCTAGTAG	0.512000														45			14		0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171931	34171931	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:34171931G>A	uc002hkd.3	+	14	1714	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	TAF15_uc002hkc.3_Missense_Mutation_p.G540E	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	543	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGCTACGGTGGAGACCGAAGT	0.622000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									87			31		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40591077	40591077	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:40591077G>A	uc001zld.3	-	8	1073	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	PLCB2_uc010bbo.3_Silent_p.L258L|PLCB2_uc010ucm.2_Silent_p.L258L	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	258					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCGGGAACAGCAGGGAGTTA	0.567000														89			21		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196879556	196879556	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:196879556G>A	uc001gtp.3	+	5	1082	c.945G>A	c.(943-945)tgG>tgA	p.W315*	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Nonsense_Mutation_p.W314*|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	668	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAAGTTACTGGGATTACATTC	0.403000														105			12		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32582490	32582490	+	Silent	SNP	G	A	A	rs145603758		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:32582490G>A	uc002yow.1	-	11	2731	c.2259C>T	c.(2257-2259)aaC>aaT	p.N753N	TIAM1_uc011adk.1_Silent_p.N753N|TIAM1_uc011adl.1_Silent_p.N728N	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	753					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCAGTCAGGGTTGTGCTGGT	0.517000														80			20		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95158206	95158206	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:95158206G>A	uc003ygh.2	-	14	2242	c.2117C>T	c.(2116-2118)tCc>tTc	p.S706F	CDH17_uc011lgo.1_Missense_Mutation_p.S492F|CDH17_uc011lgp.1_Missense_Mutation_p.S706F	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	706	Cadherin 7.					integral to membrane	calcium ion binding	p.S706F(2)|p.S706P(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)			ACTGCCGAGGGAAAATGTAAA	0.433000														52			12		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546416	11546416	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:11546416C>T	uc010shk.1	-	2	631	c.596G>A	c.(595-597)gGa>gAa	p.G199E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGG	0.597000														344			5		0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7725274	7725274	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:7725274C>T	uc010rbf.2	-	2	261	c.261G>A	c.(259-261)gtG>gtA	p.V87V		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CCGCCGTGATCACCCACTGTG	0.453000														18			4		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373279	86373279	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:86373279C>T	uc010sum.2	-	5	1456	c.1297G>A	c.(1297-1299)Gga>Aga	p.G433R	MGAT4C_uc001tal.4_Missense_Mutation_p.G409R|MGAT4C_uc001taj.4_Missense_Mutation_p.G409R|MGAT4C_uc001tak.4_Missense_Mutation_p.G409R|MGAT4C_uc001tai.4_Missense_Mutation_p.G409R|MGAT4C_uc001tah.4_Missense_Mutation_p.G409R	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	409					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.G433*(1)|p.G409*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCTAGGGCTCCATGATGCAAA	0.313000														55			7		0	0	1	0	0
FAM54B	56181	broad.mit.edu	37	1	26158412	26158412	+	Splice_Site	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:26158412G>A	uc010oet.2	+	7	1007	c.873_splice	c.e7-1	p.L291_splice	FAM54B_uc001bkq.4_Splice_Site_p.L258_splice|FAM54B_uc001bkr.4_Splice_Site|FAM54B_uc009vrz.3_Splice_Site_p.L243_splice|FAM54B_uc001bks.4_Splice_Site_p.L258_splice|FAM54B_uc001bkt.4_Splice_Site_p.L258_splice|FAM54B_uc001bku.4_Splice_Site|FAM54B_uc001bkv.4_Splice_Site_p.L161_splice			Q9H019	FA54B_HUMAN	Homo sapiens family with sequence similarity 54, member B (FAM54B), transcript variant 2, mRNA.	258										endometrium(2)|kidney(2)|large_intestine(2)|pancreas(1)|prostate(1)	8		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTCTCTAGGAACCGGAGTT	0.393000														134			23		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208432	140208432	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140208432C>T	uc003lho.2	+	0	783	c.756C>T	c.(754-756)ttC>ttT	p.F252F	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_uc003lhn.2_Silent_p.F252F|PCDHAC2_uc011dab.2_Silent_p.F252F	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	267	Cadherin 2.				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)			TAAGAATATTCGAAAATGCAG	0.433000														70			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579962	179579962	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179579962G>A	uc021vsy.1	-	86	22444	c.22219C>T	c.(22219-22221)Cct>Tct	p.P7407S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4068S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8334	Ig-like 56.						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)			GTCTCTATAGGATGAGGCTTT	0.383000														69			23		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620541	20620541	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:20620541G>A	uc003gpr.1	+	36	4703	c.4499G>A	c.(4498-4500)cGg>cAg	p.R1500Q	SLIT2_uc003gps.1_Missense_Mutation_p.R1492Q	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1500	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGCAAGCGGCGGAAATACTCT	0.557000														36			11		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911020	230911020	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:230911020C>T	uc002vqd.2	-	3	1281	c.822G>A	c.(820-822)agG>agA	p.R274R	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.R274R|SLC16A14_uc002vqf.3_Silent_p.R274R	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	274						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACATGTTCTTCCTGTGCCCGG	0.592000														90			23		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63157006	63157006	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:63157006G>A	uc002jfe.3	+	5	605	c.402G>A	c.(400-402)ggG>ggA	p.G134G	RGS9_uc021ubw.1_Silent_p.G134G|RGS9_uc010dem.3_Silent_p.G134G|RGS9_uc002jfd.3_Silent_p.G134G	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	134					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AAAAGAAAGGGATTTTGGAAG	0.388000														64			16		0	0	1	0	0
GPR52	9293	broad.mit.edu	37	1	174417981	174417981	+	RNA	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:174417981C>T	uc010pmu.1	-	0		c.354G>A			RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Silent_p.F244F			Q9Y2T5	GPR52_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA.							integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GAGCCCGATTCCCTAGTCATG	0.448000														152			24		0	0	1	0	0
FFAR1	2864	broad.mit.edu	37	19	35842700	35842700	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:35842700C>T	uc002nzc.2	+	0	256	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	82					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GCCCCGTCTTCGCGGTGGCCC	0.701000														9			4		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48423328	48423328	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:48423328G>A	uc003csr.3	+	8	1310	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	FBXW12_uc010hjv.3_Missense_Mutation_p.R356Q|FBXW12_uc003css.3_Missense_Mutation_p.R305Q|FBXW12_uc010hjw.3_Missense_Mutation_p.R274Q	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	375										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)		CTGCTGCAACGATTTGAGGAC	0.473000														50			21		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361804	9361804	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9361804G>A	uc002mlb.1	+	0	85	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGGTGTCTCAGAATTCCTCCT	0.502000														34			6		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63673596	63673596	+	Splice_Site	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:63673596G>A	uc011kdn.2	+	2	166	c.166_splice	c.e2+1	p.G56_splice		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GTTCTCCCTGGGTGAGGTTAA	0.378000														32			4		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026146	182026146	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:182026146G>A	uc001goz.3	-	1	1208	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	ZNF648_uc021pfu.1_Missense_Mutation_p.P334S	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACGGGTAGGGTTTCTCGCCT	0.632000														36			32		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385213	41385213	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:41385213C>T	uc002yyq.1	-	32	6239	c.5787G>A	c.(5785-5787)ttG>ttA	p.L1929L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1929				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTGAGGTTCCAAGCATGCTT	0.572000														39			10		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20623061	20623061	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:20623061G>A	uc001mqd.3	+	1	663	c.390G>A	c.(388-390)ggG>ggA	p.G130G	SLC6A5_uc009yic.3_5'UTR	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	130					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCCCGGAGGGGGATGCGAACG	0.677000														37			5		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179398708	179398708	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:179398708G>A	uc001gmo.3	+	12	1673	c.1286G>A	c.(1285-1287)gGc>gAc	p.G429D	AXDND1_uc001gmn.2_Missense_Mutation_p.G217D|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.G387D	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	429										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AATGAAAAAGGCTGGAATAAA	0.323000														41			15		0	0	1	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18785943	18785943	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:18785943C>T	uc002gup.2	+	6	797	c.475C>T	c.(475-477)Cct>Tct	p.P159S	PRPSAP2_uc002guo.2_Missense_Mutation_p.P73S|PRPSAP2_uc010vyi.2_Missense_Mutation_p.P119S|PRPSAP2_uc010vyj.2_Missense_Mutation_p.P73S|PRPSAP2_uc010vyk.2_Missense_Mutation_p.P159S	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	159					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CTTCAATATTCCTGTTGACAA	0.318000														161			42		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554222	52554222	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:52554222C>T	uc003dej.3	+	51	5489	c.5415C>T	c.(5413-5415)gcC>gcT	p.A1805A	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1805	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTGCTCAGGCCTTGGCATCTG	0.612000														76			17		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505081	47505081	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:47505081G>A	uc001cqt.3	+	7	1200	c.950G>A	c.(949-951)gGa>gAa	p.G317E	CYP4X1_uc001cqr.3_Missense_Mutation_p.G316E|CYP4X1_uc001cqs.3_Missense_Mutation_p.G252E	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	317						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTGTTGGCAGGACATGACACC	0.463000														76			33		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108129775	108129775	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:108129775C>T	uc003dxa.1	-	31	4267	c.4210G>A	c.(4210-4212)Gaa>Aaa	p.E1404K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1404						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						ATTGCCAGTTCCTTCCTGAGA	0.537000														16			7		0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31624326	31624327	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31624326_31624327CC>TT	uc003nvl.3	+	1	265_266	c.192_193CC>TT	c.(190-195)gaccct>gaTTct	p.P65S	APOM_uc003nvk.3_5'UTR	NM_019101	NP_061974	O95445	APOM_HUMAN	Homo sapiens apolipoprotein M (APOM), transcript variant 1, mRNA.	65					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						CAACTTTTGACCCTGTGGACAA	0.554000														145			26		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54914871	54914871	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:54914871G>A	uc003dhf.3	+	20	1941	c.1893G>A	c.(1891-1893)ggG>ggA	p.G631G	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.G537G|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.G365G|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	631						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)		TCTTCCGAGGGAATGTAACCA	0.473000														197			50		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897322	36897322	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:36897322C>T	uc003cgj.3	-	11	4007	c.3759G>A	c.(3757-3759)gtG>gtA	p.V1253V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1253					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTCCCCATCCACCTCAGCCT	0.478000														111			31		0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104820330	104820331	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:104820330_104820331GG>AA	uc001pid.1	-	4	793_794	c.720_721CC>TT	c.(718-723)aaccgc>aaTTgc	p.R241C	CASP4_uc001pib.1_Missense_Mutation_p.R185C|CASP4_uc009yxg.1_Missense_Mutation_p.R150C|CASP4_uc010rux.1_Missense_Mutation_p.R241C	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	241					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R241H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGGCAGTTGCGGTTGTTGAATA	0.475000														60			21		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79355727	79355727	+	Splice_Site	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:79355727A>G	uc021yaw.1	+	7	1178	c.987_splice	c.e7+1	p.E329_splice		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	329	EGF-like 2; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GATGTTGATGAGGTAAAAGTT	0.512000														95			37		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70942628	70942628	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:70942628C>T	uc002ezr.3	-	47	8289	c.8138G>A	c.(8137-8139)gGa>gAa	p.G2713E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2714										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)				GGAAATGGTTCCAGCAGGTTC	0.502000														13			5		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65249232	65249232	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:65249232C>T	uc001xht.3	-	18	4093	c.4042G>A	c.(4042-4044)Gcc>Acc	p.A1348T	SPTB_uc001xhr.3_Missense_Mutation_p.A1348T|SPTB_uc001xhs.3_Missense_Mutation_p.A1348T|SPTB_uc001xhu.3_Missense_Mutation_p.A1348T|SPTB_uc010aqi.3_Missense_Mutation_p.A9T	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1348					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GACACCAGGGCTGTAAACTGG	0.607000														175			28		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486366	65486366	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:65486366C>T	uc011moz.2	+	20	3628	c.3491C>T	c.(3490-3492)tCt>tTt	p.S1164F	HEPH_uc004dwn.3_Missense_Mutation_p.S1112F|HEPH_uc004dwo.3_Missense_Mutation_p.S843F|HEPH_uc010nkr.3_Missense_Mutation_p.S921F|HEPH_uc011mpa.2_Missense_Mutation_p.S1113F	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1110					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGCTGGCCTCTGTTTTGGTT	0.488000														28			9		0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1996690	1996690	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:1996690C>T	uc002cnh.3	-	6	934	c.887G>A	c.(886-888)gGg>gAg	p.G296E	TCRBV20S1_uc021tak.1_Intron	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	296					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CACCAGCTTCCCGTCCTCCAT	0.647000														35			14		0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1957788	1957788	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:1957788C>T	uc003gdz.4	+	14	2930	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	WHSC1_uc003geb.4_Silent_p.F918F|WHSC1_uc003gec.4_Silent_p.F918F|WHSC1_uc003ged.4_Silent_p.F918F|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Silent_p.F137F|WHSC1_uc011bvh.2_Intron|WHSC1_uc010icf.3_Silent_p.F266F	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	918	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	p.F918F(4)		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)		TTGGAGAATTCCCTGTGTTTT	0.473000			T	IGH@	MM									290			75		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871661	15871661	+	RNA	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:15871661G>A	uc002nbo.3	-	8		c.1347C>T								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		AGCCAGAGGTGACCTCTCCTT	0.582000														61			12		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52469455	52469455	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:52469455C>T	uc003xqu.4	-	3	426	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	109					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCATGGATTTCATTCTTATAC	0.279000														24			10		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41712263	41712264	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:41712263_41712264CC>TT	uc002opw.3	+	8	1440_1441	c.1385_1386CC>TT	c.(1384-1386)tcc>tTT	p.S462F	CYP2S1_uc010xvx.2_Missense_Mutation_p.S187F	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	462					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CAAGCCTTCTCCCTGGAGAGCC	0.609000														141			23		0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609190	32609190	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:32609190G>A	uc003obr.3	+	1	239	c.186G>A	c.(184-186)ctG>ctA	p.L62L	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Silent_p.L62L|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	62	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						ACGTGGACCTGGAGAGGAAGG	0.517000														58			31		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156617812	156617812	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:156617812G>A	uc001fpp.3	+	4	1015	c.679G>A	c.(679-681)Gac>Aac	p.D227N	BCAN_uc001fpo.3_Missense_Mutation_p.D227N	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	227	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.G226E(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGTTACGGAGACATGGATGG	0.522000														182			29		0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39620587	39620587	+	Missense_Mutation	SNP	C	T	T	rs141728288		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:39620587C>T	uc002hwr.3	-	3	878	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	273	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				ACCATGGCCTCGTACTGACAC	0.622000														46			17		0	0	1	0	0
TERF2	7014	broad.mit.edu	37	16	69404473	69404473	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:69404473G>A	uc002exd.3	-	4	753	c.627C>T	c.(625-627)atC>atT	p.I209I	TERF2_uc002exe.3_Silent_p.I251I	NM_005652	NP_005643	Q15554	TERF2_HUMAN	Homo sapiens telomeric repeat binding factor 2 (TERF2), mRNA.	209	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				AAAAGTTCTGGATAACAGGAT	0.488000														46			16		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13944521	13944521	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:13944521G>A	uc003jfd.2	-	0	69	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	9	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)					TATGCTTCCAGAGCTGTCTCC	0.488000									Kartagener syndrome					45			20		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32137076	32137076	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:32137076C>T	uc001rks.3	+	3	3601	c.3187C>T	c.(3187-3189)Cct>Tct	p.P1063S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1063										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)			AAAAGAGTTTCCTTATGGCAT	0.433000														107			25		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76893017	76893017	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:76893017G>A	uc001oyb.2	+	23	3197	c.2925G>A	c.(2923-2925)agG>agA	p.R975R	MYO7A_uc010rsl.2_Silent_p.R975R|MYO7A_uc010rsm.1_Silent_p.R964R|MYO7A_uc001oyc.2_Silent_p.R975R|MYO7A_uc001oyd.3_Silent_p.R315R|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.R186R	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	975					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGGCGGAGGGAGATGGTGG	0.597000														79			17		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17323622	17323622	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:17323622G>A	uc001baa.2	-	11	1278	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L	ATP13A2_uc001bac.2_Missense_Mutation_p.P358L|ATP13A2_uc001bab.2_Missense_Mutation_p.P358L|ATP13A2_uc009vpa.1_Missense_Mutation_p.P76L|ATP13A2_uc001bad.1_Missense_Mutation_p.P76L	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	363					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCACAGTAGGGCCCCAGCCC	0.662000														83			20		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185997694	185997694	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:185997694G>A	uc003fqa.3	-	8	1275	c.738C>T	c.(736-738)gtC>gtT	p.V246V	DGKG_uc003fqb.3_Silent_p.V246V|DGKG_uc003fqc.3_Silent_p.V246V|DGKG_uc011brx.2_Silent_p.V246V	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	246	EF-hand 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCCTCCATGGACCCATTCCT	0.502000														102			30		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141232874	141232874	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:141232874G>A	uc002tvj.1	-	59	10430	c.9458C>T	c.(9457-9459)cCt>cTt	p.P3153L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3153					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)		GCCAATATGAGGATACTCGCA	0.353000										TSP Lung(27;0.18)				28			13		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:96706525C>T	uc010how.1	+	2	845	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_uc003drp.1_Missense_Mutation_p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		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						CACTGAAATTCGTGAGGTGGG	0.443000														218			50		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167552026	167552026	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:167552026C>T	uc010jjd.3	+	10	2180	c.2180C>T	c.(2179-2181)cCc>cTc	p.P727L	ODZ2_uc003lzr.4_Missense_Mutation_p.P495L|ODZ2_uc003lzt.4_Missense_Mutation_p.P91L|ODZ2_uc010jje.3_5'UTR	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.T727T(1)		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)		AGCTGCGATCCCAACTGGATG	0.592000														10			5		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285621	238285621	+	Missense_Mutation	SNP	C	T	T	rs112172548		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:238285621C>T	uc002vwl.2	-	6	3149	c.2864G>A	c.(2863-2865)cGt>cAt	p.R955H	COL6A3_uc002vwo.2_Missense_Mutation_p.R749H|COL6A3_uc010znj.1_Missense_Mutation_p.R348H|COL6A3_uc002vwq.3_Missense_Mutation_p.R749H|COL6A3_uc002vwr.3_Missense_Mutation_p.R548H|COL6A3_uc010znk.1_Missense_Mutation_p.R755H	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	955	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCATCCACACGGTCAGATGA	0.542000														103			31		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705076	2705076	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:2705076G>A	uc009zdu.1	+	19	3013	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	CACNA1C_uc001qkc.2_Silent_p.T900T|CACNA1C_uc001qjz.2_Silent_p.T900T|CACNA1C_uc001qkd.2_Silent_p.T900T|CACNA1C_uc001qke.2_Silent_p.T900T|CACNA1C_uc001qkf.2_Silent_p.T900T|CACNA1C_uc009zdw.1_Silent_p.T900T|CACNA1C_uc001qkg.2_Silent_p.T900T|CACNA1C_uc001qkh.2_Silent_p.T900T|CACNA1C_uc001qkl.2_Silent_p.T900T|CACNA1C_uc001qkj.2_Silent_p.T900T|CACNA1C_uc001qkk.2_Silent_p.T900T|CACNA1C_uc001qkn.2_Silent_p.T900T|CACNA1C_uc001qkm.2_Silent_p.T900T|CACNA1C_uc001qko.2_Silent_p.T900T|CACNA1C_uc001qkp.2_Silent_p.T900T|CACNA1C_uc001qkq.2_Silent_p.T900T|CACNA1C_uc001qku.2_Silent_p.T900T|CACNA1C_uc001qkr.2_Silent_p.T900T|CACNA1C_uc001qks.2_Silent_p.T900T|CACNA1C_uc001qkt.2_Silent_p.T900T|CACNA1C_uc009zdv.1_Silent_p.T897T|CACNA1C_uc001qkb.2_Silent_p.T900T|CACNA1C_uc001qka.1_Silent_p.T435T|CACNA1C_uc001qki.1_Silent_p.T636T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	900					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCAATGACACGATCTTCACCA	0.562000														59			18		0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58477509	58477509	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:58477509G>A	uc001nnb.3	-	5	776	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	207					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CCAGGAGACAGCAGGTGGGAA	0.532000														83			30		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28544292	28544292	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:28544292C>T	uc002hey.4	-	5	1273	c.729G>A	c.(727-729)aaG>aaA	p.K243K		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	243					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCTGGAGCCCCTTAGACCGGT	0.582000														96			36		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46099233	46099233	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:46099233G>A	uc003gxb.3	-	1	390	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	80					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATATCTGGACGAAGTTTATTG	0.348000														70			27		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077333	19077333	+	Missense_Mutation	SNP	A	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:19077333A>T	uc001mph.3	-	1	705	c.617T>A	c.(616-618)cTg>cAg	p.L206Q	MRGPRX2_uc021qer.1_Missense_Mutation_p.L206Q	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	206					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						GATCCTGACCAGCAGGGCCAG	0.547000														36			7		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47628926	47628926	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:47628926G>A	uc001rpq.3	+	1	605	c.80G>A	c.(79-81)aGg>aAg	p.R27K	FAM113B_uc001rpn.3_Missense_Mutation_p.R27K|FAM113B_uc021qxi.1_Missense_Mutation_p.R27K	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	27							hydrolase activity	p.H26R(1)		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)					TCTGTGCATAGGGCAGTATAC	0.592000														38			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255890	140255890	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140255890C>T	uc003lic.2	+	0	960	c.833C>T	c.(832-834)tCc>tTc	p.S278F	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_uc011daf.2_Missense_Mutation_p.S278F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	293	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S278F(2)		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)			GGAGAAATTTCCTATGGGATC	0.368000														117			34		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82817297	82817297	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:82817297G>A	uc003kii.3	+	6	3528	c.3172G>A	c.(3172-3174)Gag>Aag	p.E1058K	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E1058K|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1058	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)		GACTCCCAAGGAGGCAGTAAC	0.463000														43			10		0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46539575	46539575	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:46539575G>A	uc003cps.1	+	0	91	c.23G>A	c.(22-24)tGg>tAg	p.W8*		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	8					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ACAGAAGTGTGGAAGCAAATG	0.587000														74			17		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809386	18809386	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:18809386C>T	uc001bax.3	+	0	1963	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	KLHDC7A_uc009vpg.3_Silent_p.F419F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	637						integral to membrane		p.F637L(1)		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)		AGGAAATCTTCGTCACCGGCG	0.716000														17			5		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7269837	7269837	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:7269837G>A	uc009xio.2	-	9	1274	c.1183C>T	c.(1183-1185)Cct>Tct	p.P395S	SFMBT2_uc001ijn.2_Missense_Mutation_p.P395S|SFMBT2_uc010qay.2_Missense_Mutation_p.P395S	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	395					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CAGAAGGGAGGGGCTTCCTGC	0.413000														74			16		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123516298	123516298	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:123516298G>A	uc001pza.1	-	2	623	c.216C>T	c.(214-216)ttC>ttT	p.F72F	SCN3B_uc001pzb.1_Silent_p.F72F	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	72	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.F72L(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AACATACAAGGAAATCTTTAC	0.572000														81			25		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73727395	73727395	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:73727395C>T	uc002jpg.3	+	9	1348	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	ITGB4_uc002jph.3_Silent_p.S387S|ITGB4_uc010dgo.3_Silent_p.S387S|ITGB4_uc002jpi.4_Silent_p.S387S|ITGB4_uc010dgp.1_Silent_p.S387S|ITGB4_uc002jpj.3_Silent_p.S387S|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	387					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTCACCTCCAAGATGTTCC	0.637000														100			25		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39891957	39891957	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:39891957G>A	uc003guv.4	-	16	2338	c.1798C>T	c.(1798-1800)Cct>Tct	p.P600S		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	600					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.P600S(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GGTTGCTTAGGATTTGCAAGT	0.358000														7			3		0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48195043	48195043	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:48195043C>T	uc002iqf.3	-	3	526	c.227G>A	c.(226-228)gGg>gAg	p.G76E	SAMD14_uc002iqe.3_5'UTR|SAMD14_uc002iqg.3_Missense_Mutation_p.G76E	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	76										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CAGGGGGCTCCCGCAGCCATC	0.706000														12			4		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159784043	159784043	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:159784043G>A	uc001fud.4	+	7	1150	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	FCRL6_uc001fuc.2_Missense_Mutation_p.V377I|FCRL6_uc009wsz.1_Missense_Mutation_p.V275I|FCRL6_uc009wta.3_Missense_Mutation_p.V370I	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	370						integral to membrane		p.V370A(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGAAGGTGTTGTCTACTCTGT	0.458000														106			15		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28284054	28284054	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:28284054C>T	uc009xky.3	-	1	116	c.18G>A	c.(16-18)agG>agA	p.R6R	ARMC4_uc001itz.3_Silent_p.R6R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	6							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCGTCAATTTCCTCAGAGCCA	0.483000														24			9		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140850162	140850162	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:140850162G>A	uc004cog.3	+	7	1228	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	CACNA1B_uc022bqn.1_Silent_p.K361K|CACNA1B_uc011mfd.2_5'Flank	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	361					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGTTTGCCAAGGAGCGAGAGA	0.607000														21			4		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578687	24578687	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:24578687C>T	uc002dmh.3	+	14	2853	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	RBBP6_uc010vcb.1_Missense_Mutation_p.P472S|RBBP6_uc002dmi.3_Missense_Mutation_p.P605S|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P472S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	605					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCCAGGGTTTCCTCCAGCTCC	0.537000														303			70		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711176	41711176	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:41711176G>A	uc002yyq.1	-	6	1829	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	459	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTCCGACGTGATCATCTGGC	0.602000														54			18		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93636963	93636963	+	Missense_Mutation	SNP	G	A	A	rs56071116		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:93636963G>A	uc004aqz.3	+	8	1218	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	SYK_uc004ara.3_Missense_Mutation_p.R315K|SYK_uc004arb.3_Missense_Mutation_p.R315K|SYK_uc004arc.3_Missense_Mutation_p.R338K|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	338	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGCCCCCAGAGAGAAGCCCTA	0.562000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									144			98		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336588	126336588	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:126336588C>T	uc003ifj.4	+	4	6470	c.6470C>T	c.(6469-6471)gCt>gTt	p.A2157V	FAT4_uc011cgp.2_Missense_Mutation_p.A455V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2157	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						TTTGCACAAGCTTTGTATAAA	0.413000														51			20		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32137634	32137634	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:32137634C>T	uc001rks.3	+	3	4159	c.3745C>T	c.(3745-3747)Cct>Tct	p.P1249S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1249										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)			AAGTCATTTTCCTGAACTACA	0.363000														51			8		0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74313371	74313371	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:74313371G>A	uc003hgz.1	+	7	1083	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	AFP_uc011cbg.1_Missense_Mutation_p.E120K	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	346	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTTCAGGGGAAAAAAATAT	0.338000									Alpha-Fetoprotein, Hereditary Persistence of					21			5		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524490	37524490	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:37524490G>A	uc003aqv.1	-	9	1433	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	434					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.S433R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGCCACCGAGGAGACTGGGGG	0.662000														57			5		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:29628245G>A	uc010ztl.1	+	2	189	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000														131			4		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193048987	193048987	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:193048987C>T	uc011bsq.2	-	11	1386	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	462	Poly-Lys.				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.K462K(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTTTCTTTTTCTTCAGTCTCT	0.478000														49			23		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10090678	10090678	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10090678C>T	uc002mmq.1	-	35	2736	c.2650G>A	c.(2650-2652)Ggc>Agc	p.G884S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	884	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACAGGGGGGCCCTTTGGCCCA	0.607000														28			4		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139763744	139763744	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:139763744C>T	uc003yvd.3	-	21	2489	c.2042G>A	c.(2041-2043)gGc>gAc	p.G681D	COL22A1_uc011ljo.2_5'UTR	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	681	Collagen-like 4.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G681G(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCTTCTGGGCCTATTGGACC	0.463000										HNSCC(7;0.00092)				41			15		0	0	1	0	0
MRPL40	64976	broad.mit.edu	37	22	19423218	19423218	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:19423218G>A	uc002zpg.3	+	3	396	c.354G>A	c.(352-354)ctG>ctA	p.L118L	HIRA_uc010gro.2_Intron|HIRA_uc010grp.3_Intron	NM_003776	NP_003767	Q9NQ50	RM40_HUMAN	Homo sapiens mitochondrial ribosomal protein L40 (MRPL40), nuclear gene encoding mitochondrial protein, mRNA.	118					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CTCTGCTTCTGAAGAAGTGGT	0.527000														182			96		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163816	12163817	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:12163816_12163817AC>TT	uc003nac.3	+	8	7458_7459	c.7279_7280AC>TT	c.(7279-7281)acg>TTg	p.T2427L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2427					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGTGCAGCTCACGATCCCTGCT	0.520000														72			42		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149528223	149528223	+	Splice_Site	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:149528223G>A	uc010lpk.3	+	107	15116	c.15116_splice	c.e107-1	p.E5039_splice	SSPO_uc003wgh.2_Splice_Site	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	5047	VWFC 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTCCCCACAGAGGAGCAGTC	0.622000														24			18		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200974034	200974034	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:200974034C>T	uc001gvs.2	-	5	1077	c.760G>A	c.(760-762)Gat>Aat	p.D254N	KIF21B_uc009wzl.2_Missense_Mutation_p.D254N|KIF21B_uc001gvr.2_Missense_Mutation_p.D254N|KIF21B_uc010ppn.2_Missense_Mutation_p.D254N|KIF21B_uc001gvt.1_Missense_Mutation_p.D37N	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	254	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTGTACCATCAGGAAGCCCA	0.592000														116			10		0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374516	180374516	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:180374516C>T	uc003mmp.3	+	3	912	c.678C>T	c.(676-678)acC>acT	p.T226T	BTNL8_uc003mmq.3_Silent_p.T226T|BTNL8_uc010jll.3_Silent_p.T226T|BTNL8_uc011dhg.2_Silent_p.T101T|BTNL8_uc010jlm.3_Silent_p.T110T|BTNL8_uc011dhh.2_Silent_p.T42T	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	226						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTCAGATACCTTTTTCGAGC	0.403000														167			48		0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37194854	37194854	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:37194854C>T	uc001wtz.2	-	5	669	c.359G>A	c.(358-360)gGa>gAa	p.G120E	SLC25A21_uc021rsf.1_Missense_Mutation_p.G120E	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	120					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TTCTGTTAGTCCAGATCCCAA	0.348000														55			13		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497220	149497220	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:149497220G>A	uc003lro.3	-	21	3567	c.3098C>T	c.(3097-3099)gCt>gTt	p.A1033V	PDGFRB_uc010jhd.3_Missense_Mutation_p.A872V	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1033					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)	GCCCTCGTCAGCAACCTCGGG	0.602000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									61			17		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274546	74274546	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:74274546C>T	uc002skb.4	+	0	1097	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	TET3_uc010fez.2_Missense_Mutation_p.P366L	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	366							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCCCGGCCCCGGCCCCATCC	0.662000														23			13		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096504	51096504	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:51096504G>A	uc003tps.3	-	10	2645	c.2460C>T	c.(2458-2460)ccC>ccT	p.P820P	COBL_uc003tpr.4_Silent_p.P763P|COBL_uc011kcl.2_Silent_p.P763P|COBL_uc003tpp.4_Silent_p.P549P|COBL_uc003tpq.4_Silent_p.P704P|COBL_uc003tpo.4_Silent_p.P305P	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	763								p.K819T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTTCCCAATGGGCTGAGATT	0.572000														41			31		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960248	200960249	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:200960248_200960249GG>AA	uc001gvs.2	-	17	2800_2801	c.2483_2484CC>TT	c.(2482-2484)ccc>cTT	p.P828L	KIF21B_uc009wzl.2_Missense_Mutation_p.P828L|KIF21B_uc001gvr.2_Missense_Mutation_p.P828L|KIF21B_uc010ppn.2_Missense_Mutation_p.P828L	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	828					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTCAGACATGGGCTTGGCCAG	0.639000														74			11		0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138305846	138305846	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:138305846C>T	uc011kqh.2	-	12	1298	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	SVOPL_uc003vue.3_Missense_Mutation_p.G281E	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	433						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCCGCTGGTTCCCATCCCCAA	0.592000														73			12		0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228871628	228871628	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:228871628G>A	uc001htf.3	+	0	805	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	RHOU_uc021pkj.1_Intron	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	47	Gly-rich.				regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				gggtgccgaggggcgcggcgT	0.776000														23			15		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196918720	196918720	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:196918720C>T	uc001gtq.1	+	1	271	c.194C>T	c.(193-195)tCc>tTc	p.S65F	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	65	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						CCTTCAAAATCCTTTTGGACT	0.378000														35			38		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119109765	119109765	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:119109765C>T	uc003ecj.4	+	6	1348	c.816C>T	c.(814-816)agC>agT	p.S272S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	272					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGGAGAACAGCCTGCCTGAGA	0.542000														36			6		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182591	133182591	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:133182591G>A	uc003ytj.3	-	7	1450	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	KCNQ3_uc003yti.3_Missense_Mutation_p.P289S|KCNQ3_uc010mdt.3_Missense_Mutation_p.P409S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	409					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)			CTGAAGAAAGGAAAAGAGACG	0.542000														28			11		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10777392	10777392	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:10777392C>T	uc001qys.2	-	7	1305	c.784G>A	c.(784-786)Gat>Aat	p.D262N		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	262	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GCAGTGAGATCACTTTGCATC	0.473000										HNSCC(73;0.22)				145			33		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422100	47422100	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:47422100C>T	uc010ekv.3	+	0	168	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	56					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										ACCATACCTCCGTCCTCAGCA	0.537000														68			22		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281161	152281161	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152281161G>A	uc001ezu.1	-	2	6237	c.6201C>T	c.(6199-6201)ccC>ccT	p.P2067P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2067	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P2067H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTGATGGGGCCCAGCTT	0.562000									Ichthyosis					621			92		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237052584	237052585	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:237052584_237052585GG>AA	uc001hyi.4	+	27	3378_3379	c.2955_2956GG>AA	c.(2953-2958)cggggc>cgAAgc	p.G986S	MTR_uc010pxw.2_Missense_Mutation_p.G579S|MTR_uc010pxx.2_Missense_Mutation_p.G935S|MTR_uc010pxy.2_Missense_Mutation_p.G840S	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	986	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.R985Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GGCAGCTCCGGGGCAAGTACCC	0.485000														125			15		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559409	20559409	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:20559409C>T	uc002dhj.4	-	8	1283	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	ACSM2B_uc002dhk.4_Missense_Mutation_p.R358Q|ACSM2B_uc010bwf.1_Missense_Mutation_p.R358Q	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	358					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATAGAATTCTCGGATGTCCAG	0.502000														157			57		0	0	1	0	0
BTG1	694	broad.mit.edu	37	12	92537926	92537927	+	Missense_Mutation	DNP	CA	AC	AC			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:92537926_92537927CA>AC	uc001tby.3	-	1	807_808	c.445_446TG>GT	c.(445-447)tgt>GTt	p.C149V	BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|BC044741_uc001tca.3_5'Flank	NM_001731	NP_001722	P62324	BTG1_HUMAN	Homo sapiens B-cell translocation gene 1, anti-proliferative (BTG1), mRNA.	149					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity	p.C149*(1)		haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				TTCCTCCTTACAGCTGATTCGG	0.470000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			20		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698133	34698133	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:34698133G>A	uc003teh.1	+	0	237	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.E37K|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.E37K|NPSR1_uc003tei.1_Missense_Mutation_p.E37K|NPSR1_uc010kww.1_Missense_Mutation_p.E37K|NPSR1_uc011kar.1_Missense_Mutation_p.E37K	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	37						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGAAGTGGTGGAAGGAAAGGA	0.483000														53			35		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718345	142718345	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:142718345G>A	uc022cfm.1	-	0	580	c.580C>T	c.(580-582)Cct>Tct	p.P194S	SLITRK4_uc022cfl.1_Missense_Mutation_p.P194S|SLITRK4_uc004fbx.3_Missense_Mutation_p.P194S|SLITRK4_uc004fby.3_Missense_Mutation_p.P194S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	194						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)					CCGATATAAGGGAGCTTCTGG	0.418000														29			27		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627279	38627279	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:38627279C>T	uc021wvo.1	-	14	2742	c.2690G>A	c.(2689-2691)gGa>gAa	p.G897E	SCN5A_uc021wvk.1_Missense_Mutation_p.G897E|SCN5A_uc021wvl.1_Missense_Mutation_p.G897E|SCN5A_uc021wvm.1_Missense_Mutation_p.G897E|SCN5A_uc021wvn.1_Missense_Mutation_p.G897E|SCN5A_uc021wvp.1_Missense_Mutation_p.G897E|SCN5A_uc021wvq.1_Missense_Mutation_p.G897E|SCN5A_uc021wvr.1_Missense_Mutation_p.G897E|SCN5A_uc021wvs.1_Missense_Mutation_p.G897E|SCN5A_uc021wvt.1_Missense_Mutation_p.G897E|SCN5A_uc021wvu.1_Missense_Mutation_p.G897E|SCN5A_uc021wvv.1_Missense_Mutation_p.G897E|SCN5A_uc021wvj.1_Missense_Mutation_p.G763E|SCN5A_uc021wvi.1_Missense_Mutation_p.G763E|SCN5A_uc021wvw.1_Missense_Mutation_p.G508E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	897					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GATCCACTCTCCACAGAGGAT	0.542000														73			30		0	0	1	0	0
CCNI2	645121	broad.mit.edu	37	5	132086664	132086664	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:132086664G>A	uc011cxg.1	+	3	800	c.749G>A	c.(748-750)gGg>gAg	p.G250E	CCNI2_uc011cxh.1_Missense_Mutation_p.G251E|CCNI2_uc003kxq.1_Missense_Mutation_p.G250E|SEPT8_uc003kxr.2_3'UTR	NM_001039780	NP_001034869	Q6ZMN8	CCNI2_HUMAN	Homo sapiens cyclin I family, member 2 (CCNI2), mRNA.	250					regulation of cyclin-dependent protein kinase activity		protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTATATTGGGACGCCGCTG	0.478000														99			20		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330043	138330043	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:138330043C>T	uc002tva.1	+	15	3250	c.3250C>T	c.(3250-3252)Ccc>Tcc	p.P1084S	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGATGAAATTCCCCCAGAAAC	0.453000														36			9		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35142676	35142676	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:35142676G>A	uc003teq.1	-	18	1987	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	DPY19L2P1_uc003tep.1_Intron|DPY19L2P1_uc010kwz.1_Intron					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TTATCAAAACGAACTCTGCGA	0.338000														36			15		0	0	1	0	0
GOLM1	51280	broad.mit.edu	37	9	88692332	88692332	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:88692332C>T	uc004aol.3	-	2	510	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	GOLM1_uc010mqd.1_Non-coding_Transcript|GOLM1_uc004aom.3_Missense_Mutation_p.E102K	NM_016548	NP_808800	Q8NBJ4	GOLM1_HUMAN	Homo sapiens golgi membrane protein 1 (GOLM1), transcript variant 1, mRNA.	102						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTTGCCTTTTCGTCCTGGTAC	0.532000														57			31		0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163295964	163295964	+	Splice_Site	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:163295964G>A	uc001gcq.1	+	2	423	c.123_splice	c.e2+1	p.K41_splice	NUF2_uc001gcr.1_Splice_Site_p.K41_splice	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	41	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CAAATCCAAAGGTAAAAGGTG	0.373000														67			54		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085636	92085636	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:92085636G>A	uc001pdj.4	+	0	375	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	120	Cadherin 1.				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)				ATTAAATAGGGAAATCCAGGA	0.358000										TCGA Ovarian(4;0.039)				28			11		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110505951	110505951	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:110505951G>A	uc003yne.3	+	62	10402	c.10298G>A	c.(10297-10299)gGa>gAa	p.G3433E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3433					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAAGAGCAGGATACCGCATT	0.343000										HNSCC(38;0.096)				34			10		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506690	11506690	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:11506690C>T	uc001qzw.1	-	2	384	c.347G>A	c.(346-348)gGa>gAa	p.G116E	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	116	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).|Missing (in clone CP-4).|Missing (in clone CP-5).			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)			TTGTGGCTTTCCTGGAGGAGG	0.612000														543			72		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50158053	50158053	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:50158053C>T	uc002poq.3	+	8	3668	c.3544C>T	c.(3544-3546)Ccc>Tcc	p.P1182S		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1182					RNA splicing|mRNA processing	nucleus	RNA binding	p.T1181P(1)		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)		CCCCCCCACCCCCACCGGGCT	0.692000														49			10		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58203429	58203429	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:58203429C>T	uc001sqj.2	-	7	919	c.890G>A	c.(889-891)gGa>gAa	p.G297E	AVIL_uc009zqe.2_Missense_Mutation_p.G290E|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Missense_Mutation_p.G274E|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	297	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGCTCCTTTTCCTTTCCACAC	0.448000														65			14		0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227509	56227509	+	Missense_Mutation	SNP	C	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:56227509C>G	uc002xyq.3	-	3	857	c.464G>C	c.(463-465)gGg>gCg	p.G155A	PMEPA1_uc002xyr.3_Missense_Mutation_p.G105A|PMEPA1_uc002xys.3_Missense_Mutation_p.G120A|PMEPA1_uc002xyt.3_Missense_Mutation_p.G105A	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	155					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGGCTCCTCCCCGTCTGACAG	0.692000														56			4		0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925411	114925411	+	Missense_Mutation	SNP	C	T	T	rs61724286		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:114925411C>T	uc021pyi.1	+	14	2047	c.1540C>T	c.(1540-1542)Ccg>Tcg	p.P514S	TCF7L2_uc001lah.3_3'UTR|TCF7L2_uc010qro.2_3'UTR|TCF7L2_uc001lae.4_Missense_Mutation_p.P497S|TCF7L2_uc010qrm.2_3'UTR|TCF7L2_uc010qrn.2_3'UTR|TCF7L2_uc021pyg.1_Missense_Mutation_p.P230S|TCF7L2_uc021pyh.1_3'UTR|TCF7L2_uc021pyj.1_3'UTR|TCF7L2_uc021pyk.1_Missense_Mutation_p.P479S|TCF7L2_uc021pyl.1_3'UTR|TCF7L2_uc010qrp.2_3'UTR|TCF7L2_uc021pym.1_3'UTR|TCF7L2_uc021pyn.1_Missense_Mutation_p.P502S|TCF7L2_uc021pyo.1_3'UTR|TCF7L2_uc021pyp.1_3'UTR|TCF7L2_uc010qrq.2_3'UTR|TCF7L2_uc001lac.4_Missense_Mutation_p.P491S|TCF7L2_uc010qrk.2_3'UTR|TCF7L2_uc001lad.4_3'UTR|TCF7L2_uc001lag.4_3'UTR|TCF7L2_uc001laf.4_Missense_Mutation_p.P474S|TCF7L2_uc010qrl.2_Missense_Mutation_p.P474S|TCF7L2_uc010qrr.2_Missense_Mutation_p.P429S|TCF7L2_uc010qrs.2_Missense_Mutation_p.P385S|TCF7L2_uc010qrt.2_Missense_Mutation_p.P385S|TCF7L2_uc010qru.2_3'UTR|TCF7L2_uc010qrv.2_3'UTR|TCF7L2_uc010qrw.2_3'UTR|TCF7L2_uc010qrx.2_3'UTR	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	514					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TCCCCCCTCCCCGAACCTGCT	0.597000			T	VTI1A	colorectal									135			35		0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20044530	20044530	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:20044530C>T	uc002non.3	+	3	942	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S		NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	256						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P256H(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGGAAAGAAACCCTACAAGTG	0.368000														42			11		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120833322	120833322	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:120833322G>A	uc001pxn.2	+	17	2485	c.2198G>A	c.(2197-2199)cGa>cAa	p.R733Q	GRIK4_uc009zav.1_Missense_Mutation_p.R733Q|GRIK4_uc009zaw.1_Missense_Mutation_p.R733Q|GRIK4_uc009zax.1_Missense_Mutation_p.R733Q	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	733					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TATCGGCAGCGAAACTGCAAC	0.557000														51			8		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136248	55136248	+	Missense_Mutation	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:55136248A>G	uc010rif.2	+	0	889	c.889A>G	c.(889-891)Aaa>Gaa	p.K297E		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCCCATTGATAAATCCATGAC	0.403000														175			48		0	0	1	0	0
SPATA2	9825	broad.mit.edu	37	20	48522674	48522674	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:48522674G>A	uc010gie.3	-	2	1395	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	SPATA2_uc002xuw.3_Missense_Mutation_p.R349W|SPATA2_uc010zyn.2_Missense_Mutation_p.R212W	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	349					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		p.R349Q(1)		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)			GCATCCTGCCGACGGTAGGTG	0.637000														74			37		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364073	22364073	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:22364073G>A	uc002nqs.1	-	2	764	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATGCAAAATGATCTGACATA	0.333000														59			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179410839	179410839	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179410839G>A	uc021vsy.1	-	291	87645	c.87420C>T	c.(87418-87420)tcC>tcT	p.S29140S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S22835S|TTN_uc021vta.1_Silent_p.S22768S|TTN_uc021vtb.1_Silent_p.S22643S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30067	Fibronectin type-III 112.						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)			ATGGGCCAGGGGAATCTGAAA	0.473000														55			13		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28857793	28857793	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:28857793C>T	uc003szq.3	+	9	1750	c.1360C>T	c.(1360-1362)Cta>Tta	p.L454L	CREB5_uc003szo.3_Silent_p.L421L|CREB5_uc003szr.3_Silent_p.L447L|CREB5_uc003szs.3_Silent_p.L315L	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	454					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						ACAAGGATATCTAAGTAAGTC	0.368000														43			27		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807593	143807593	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:143807593G>A	uc011ktz.2	+	0	918	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CACTCCAGAGGAAGAGGTCCA	0.433000														184			21		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43855000	43855000	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:43855000G>A	uc002zbe.3	+	9	1413	c.1329G>A	c.(1327-1329)ggG>ggA	p.G443G	UBASH3A_uc002zbf.3_Silent_p.G405G|UBASH3A_uc010gpe.3_Silent_p.G405G|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	443	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGAGTCGTGGGATCAAAGACT	0.438000														70			27		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101430917	101430917	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:101430917C>T	uc010svm.1	+	9	1458	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	ANO4_uc001thw.2_Missense_Mutation_p.P261S|ANO4_uc001thx.2_Missense_Mutation_p.P296S	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	296						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						AGCTGCGTTTCCCCTGCATGA	0.348000										HNSCC(74;0.22)				102			24		0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30226677	30226677	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:30226677G>A	uc002hgr.3	-	1	248	c.165C>T	c.(163-165)atC>atT	p.I55I	UTP6_uc010wbw.1_Silent_p.I55I	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	55					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				GAACATAATTGATAAAGTCTT	0.363000														17			9		0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386813	124386813	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:124386813G>A	uc003vli.3	-	1	2259	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	536						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGAACAAAAGGAACTGGCTGA	0.468000														134			22		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240611	126240611	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:126240611C>T	uc003ifj.4	+	0	3045	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1015	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F1015F(3)		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						ATTCTCGATTCTTTAAAGTAC	0.393000														77			29		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90103462	90103462	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:90103462C>T	uc003kju.3	+	72	14976	c.14880C>T	c.(14878-14880)ttC>ttT	p.F4960F	GPR98_uc003kjt.3_Silent_p.F2666F|GPR98_uc003kjw.3_Silent_p.F621F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4960					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGGAGTTTTCCTGTGGACGT	0.468000														23			10		0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66840939	66840939	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:66840939G>A	uc002aqc.3	-	12	1725	c.1593C>T	c.(1591-1593)ccC>ccT	p.P531P	LCTL_uc002aqd.4_Silent_p.P358P|LCTL_uc010bhw.3_Silent_p.P141P|ZWILCH_uc002aqb.3_3'UTR|ZWILCH_uc002aqa.3_3'UTR|ZWILCH_uc010bhv.3_3'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	531					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACTTAGCAAGGGCTCTGAAA	0.438000														49			15		0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41322333	41322333	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:41322333G>A	uc003azh.3	+	9	1519	c.1418G>A	c.(1417-1419)cGa>cAa	p.R473Q	XPNPEP3_uc003azi.3_Missense_Mutation_p.R394Q|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.	473					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						CTTGGTGTACGAATTGAGGAT	0.448000														201			38		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73461026	73461026	+	Splice_Site	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:73461026G>A	uc003tzw.3	+	12	663	c.572_splice	c.e12-1	p.G191_splice	ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Splice_Site_p.G191_splice|ELN_uc003tzy.3_Splice_Site_p.G186_splice|ELN_uc003tzz.3_Splice_Site_p.G169_splice|ELN_uc003tzo.3_Splice_Site_p.G191_splice|ELN_uc003tzp.3_Splice_Site_p.G147_splice|ELN_uc003tzq.3_Splice_Site_p.G88_splice|ELN_uc003tzr.3_Splice_Site|ELN_uc003tzs.3_Splice_Site_p.G191_splice|ELN_uc003tzt.3_Splice_Site_p.G196_splice|ELN_uc003tzu.3_Splice_Site_p.G196_splice|ELN_uc003tzv.3_Splice_Site_p.G181_splice|ELN_uc011kfe.2_Splice_Site|ELN_uc003tzx.3_Splice_Site_p.G181_splice|ELN_uc011kff.2_Splice_Site_p.G191_splice	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	191					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	ATTCCCACAGGAGTTGGACCC	0.582000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							63			11		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405878	68405878	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:68405878G>A	uc002ewa.3	-	2	629	c.207C>T	c.(205-207)gcC>gcT	p.A69A	SMPD3_uc010cfe.3_Silent_p.A69A|SMPD3_uc010vlh.2_Silent_p.A69A	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	69					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCACCAGGAGGGCCAGGTAGA	0.637000														22			3		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178769886	178769886	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:178769886C>T	uc002ulq.3	-	2	1418	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	PDE11A_uc002ulr.3_Missense_Mutation_p.G117E|PDE11A_uc002uls.1_Missense_Mutation_p.G9E|PDE11A_uc002ult.1_Missense_Mutation_p.G117E|PDE11A_uc002ulu.1_Missense_Mutation_p.G9E	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	367	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TATGGCGATTCCACAAAATGG	0.373000									Primary Pigmented Nodular Adrenocortical Disease, Familial					37			11		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2622102	2622102	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:2622102G>A	uc009zdu.1	+	8	1655	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	CACNA1C_uc001qkc.2_Missense_Mutation_p.D448N|CACNA1C_uc001qjz.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkd.2_Missense_Mutation_p.D448N|CACNA1C_uc001qke.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkf.2_Missense_Mutation_p.D448N|CACNA1C_uc009zdw.1_Missense_Mutation_p.D448N|CACNA1C_uc001qkg.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkh.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkl.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkj.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkk.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkn.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkm.2_Missense_Mutation_p.D448N|CACNA1C_uc001qko.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkp.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkq.2_Missense_Mutation_p.D448N|CACNA1C_uc001qku.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkr.2_Missense_Mutation_p.D448N|CACNA1C_uc001qks.2_Missense_Mutation_p.D448N|CACNA1C_uc001qkt.2_Missense_Mutation_p.D448N|CACNA1C_uc009zdv.1_Missense_Mutation_p.D445N|CACNA1C_uc001qkb.2_Missense_Mutation_p.D448N|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.D184N|CACNA1C_uc009zdy.1_Missense_Mutation_p.D73N|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	448					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGAAGACATCGATCCTGAGAA	0.567000														19			7		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94041910	94041910	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:94041910C>T	uc003ung.1	+	24	1890	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	473					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)	TCCCTGGCATCGACGGCAGGC	0.517000										HNSCC(75;0.22)				25			12		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922164	24922164	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:24922164G>A	uc001ywo.3	+	0	1624	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	384	Pro-rich.				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)		AATCTTGGAGGATAAAACAGA	0.537000														50			17		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375835	175375835	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:175375835C>T	uc001gkp.1	-	0	97	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	TNR_uc009wwu.1_Missense_Mutation_p.E6K|TNR_uc010pmz.1_Missense_Mutation_p.E6K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	6					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCACTGTTTCCCCATCTGCC	0.532000														117			85		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8809028	8809028	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:8809028G>A	uc002mkl.2	-	0	145	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	8						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGGATTCCGAGGACTTGGGGC	0.667000														139			39		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43927066	43927066	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:43927066C>T	uc002xnn.2	-	6	1357	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	MATN4_uc002xnp.2_Silent_p.S308S|MATN4_uc002xno.2_Silent_p.S349S|MATN4_uc010zwr.1_Silent_p.S338S|MATN4_uc002xnr.1_Silent_p.S390S	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	431	VWFA 2.					extracellular region	protein binding	p.S390L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCACGCGGCTCGAGAACTGCA	0.632000														81			18		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362376	9362376	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9362376C>T	uc002mlb.1	+	0	657	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCATATATTTCATGGGTGCCA	0.423000														23			4		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4935985	4935985	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:4935985C>T	uc001lzr.1	-	0	909	c.909G>A	c.(907-909)caG>caA	p.Q303Q		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATCCCGGATCTGTTTGGTCT	0.473000														35			3		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632472	143632472	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:143632472C>T	uc011ktv.2	+	0	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCCTTCTGATCAGACTGGACA	0.517000														361			58		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136593187	136593187	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	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														50			5		0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50471792	50471792	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:50471792C>T	uc001rvv.3	+	4	948	c.719C>T	c.(718-720)tCc>tTc	p.S240F	ASIC1_uc001rvw.3_Missense_Mutation_p.S240F|ASIC1_uc009zln.3_Missense_Mutation_p.S31F|ASIC1_uc009zlo.3_Missense_Mutation_p.S240F|ASIC1_uc021qxr.1_Missense_Mutation_p.S274F	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	240					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GACGAGACGTCCTTCGAAGCA	0.567000														94			29		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128496964	128496964	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:128496964G>A	uc003vnz.4	+	44	7759	c.7550G>A	c.(7549-7551)gGa>gAa	p.G2517E	FLNC_uc003voa.4_Missense_Mutation_p.G2484E	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2517	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						GGGCTCGAGGGAGGCACTACC	0.647000														54			8		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109398752	109398752	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:109398752C>T	uc002tem.4	+	26	9055	c.8929C>T	c.(8929-8931)Cag>Tag	p.Q2977*		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2977	RanBD1 4.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAGAAGAGACCAGGTTTTTAA	0.383000														57			19		0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305460	48305460	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:48305460G>A	uc002php.2	-	1	948	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA.	270	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GCTGGGCTGGGAATCGGGCCT	0.652000														30			6		0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26950833	26950833	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:26950833C>T	uc002rhn.2	+	1	745	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	194					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTACTGCTTCATCACCCTCA	0.612000														44			12		0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49107094	49107094	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:49107094C>T	uc002pjn.2	-	3	898	c.833G>A	c.(832-834)aGc>aAc	p.S278N	SPACA4_uc002pjo.3_5'Flank	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	278										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GAACTCAAGGCTGAAGGCGTC	0.682000														68			17		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73658915	73658915	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:73658915G>A	uc010dgl.3	-	3	624	c.415C>T	c.(415-417)Cag>Tag	p.Q139*	RECQL5_uc010dgk.3_Nonsense_Mutation_p.Q112*|RECQL5_uc002joz.4_Nonsense_Mutation_p.Q139*|RECQL5_uc002jpa.4_Nonsense_Mutation_p.Q139*|RECQL5_uc002jpb.2_Nonsense_Mutation_p.Q139*	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	139	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGGTGGGCTGGAAGGAGGAT	0.552000								Other identified genes with known or suspected DNA repair function						257			46		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216752	3216752	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:3216752G>A	uc022aqr.1	-	20	3616	c.3226C>T	c.(3226-3228)Cgt>Tgt	p.R1076C	CSMD1_uc011kwj.2_Missense_Mutation_p.R469C|CSMD1_uc003wqe.3_Missense_Mutation_p.R233C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1077	Sushi 6.					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)		CCTTCTAAACGATATCCCAGG	0.557000														64			21		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385279	41385279	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:41385279C>T	uc002yyq.1	-	32	6173	c.5721G>A	c.(5719-5721)atG>atA	p.M1907I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1907				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACAAAAAGTCCATTCTAAGGT	0.498000														42			18		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000536	56000536	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:56000536C>T	uc010rjc.2	-	0	126	c.126G>A	c.(124-126)atG>atA	p.M42I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGACATTCTTCATGTTGAAAT	0.358000														37			14		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801820	9801820	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9801820C>T	uc021uop.1	-	5	1005	c.359G>A	c.(358-360)gGa>gAa	p.G120E	ZNF812_uc010xkx.2_Missense_Mutation_p.G16E	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	120	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GATGTCTTTTCCATAACAATT	0.413000														54			10		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685646	47685646	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:47685646C>T	uc001cqx.2	-	3	1319	c.742G>A	c.(742-744)Gag>Aag	p.E248K	TAL1_uc009vyq.2_Silent_p.R4R|TAL1_uc001cqy.2_Missense_Mutation_p.E248K	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	248					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GTGCCCTCCTCCTCCTGGTCA	0.642000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									26			12		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243303396	243303396	+	Missense_Mutation	SNP	A	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:243303396A>C	uc021plo.1	-	15	4481	c.4073T>G	c.(4072-4074)gTt>gGt	p.V1358G	CEP170_uc021plp.1_Missense_Mutation_p.V1234G|CEP170_uc021plq.1_Missense_Mutation_p.V1260G|CEP170_uc001hzr.3_5'UTR|CEP170_uc001hzv.1_Missense_Mutation_p.V710G	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	1358	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCATCAAAAACACGATCAAC	0.378000														39			55		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270918	1270918	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:1270918C>T	uc002cks.3	+	34	7234	c.6986C>T	c.(6985-6987)cCc>cTc	p.P2329L	CACNA1H_uc002ckt.3_Missense_Mutation_p.P2323L|CACNA1H_uc002cku.3_Missense_Mutation_p.P1024L|CACNA1H_uc010brj.3_Missense_Mutation_p.P1040L|CACNA1H_uc002ckv.3_Missense_Mutation_p.P1018L	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2329					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)	CTCACAGTCCCCCAGTGTCCT	0.677000														72			29		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53186570	53186570	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:53186570C>T	uc001say.3	-	3	1014	c.948G>A	c.(946-948)atG>atA	p.M316I		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	316	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CCACCTTGTTCATATAGGCAC	0.458000														197			51		0	0	1	0	0
WBP2	23558	broad.mit.edu	37	17	73843582	73843582	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:73843582G>A	uc002jps.3	-	5	764	c.641C>T	c.(640-642)cCc>cTc	p.P214L	UNC13D_uc002jpp.3_5'Flank|UNC13D_uc010wsk.1_5'Flank|UNC13D_uc002jpq.1_5'Flank|WBP2_uc010wsl.2_Missense_Mutation_p.P180L|WBP2_uc010wsm.2_Missense_Mutation_p.P169L|WBP2_uc010wsn.1_Missense_Mutation_p.P183L	NM_012478	NP_036610	Q969T9	WBP2_HUMAN	Homo sapiens WW domain binding protein 2 (WBP2), mRNA.	214	Pro-rich.						protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGAGTGGAGGGGACATCGGG	0.687000														20			6		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187486	152187486	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152187486G>A	uc001ezt.1	-	2	6695	c.6619C>T	c.(6619-6621)Cgt>Tgt	p.R2207C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2207					keratinization		calcium ion binding|protein binding	p.R2207C(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAAGAACGACCTGAGCCA	0.602000														484			58		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170009450	170009450	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:170009450C>T	uc002ues.3	-	66	12533	c.12320G>A	c.(12319-12321)gGg>gAg	p.G4107E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4107					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGAGCCCTCCCCTCGCACAGT	0.468000														187			41		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70517065	70517065	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:70517065C>T	uc003xyg.2	+	11	1836	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S	SULF1_uc010lza.1_Silent_p.S425S|SULF1_uc003xyd.2_Silent_p.S425S|SULF1_uc003xye.2_Silent_p.S425S|SULF1_uc003xyf.2_Silent_p.S425S|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	425					apoptosis|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)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGGAAGAATCCAGCAAGAATA	0.468000														95			22		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180359867	180359867	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:180359867C>T	uc010hxe.3	-	12	1903	c.1788G>A	c.(1786-1788)atG>atA	p.M596I	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	596					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.M596I(1)|p.M680I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCGCTCTTCCATTGCTGTGT	0.343000														40			11		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41551013	41551013	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:41551013C>T	uc002yyq.1	-	14	3240	c.2788G>A	c.(2788-2790)Gat>Aat	p.D930N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	930	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGAGCAGAATCCCAGGAGTCT	0.433000														49			13		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22616497	22616497	+	Missense_Mutation	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:22616497A>G	uc010ajk.2	+	1	324	c.238A>G	c.(238-240)Acc>Gcc	p.T80A	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'UTR|TCRA_uc021rpt.1_5'UTR					SubName: Full=TRA@ protein;																		GAAGAGACTAACCTTTCAGTT	0.517000														38			19		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875377	247875377	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:247875377C>T	uc001idj.1	-	0	681	c.681G>A	c.(679-681)agG>agA	p.R227R		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R227S(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			CAGAGGGGATCCTGAGGATGG	0.527000														81			89		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54922088	54922088	+	Silent	SNP	C	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:54922088C>A	uc001sgc.4	+	21	2512	c.2433C>A	c.(2431-2433)gcC>gcA	p.A811A	NCKAP1L_uc010sox.2_Silent_p.A353A|NCKAP1L_uc010soy.2_Silent_p.A761A	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	811					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						TCTCCCCAGCCATGCAGGCCT	0.542000														154			44		5.20006e-24	5.24842e-24	1	1	0
KIAA0195	9772	broad.mit.edu	37	17	73482443	73482443	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:73482443G>A	uc010wsa.2	+	3	567	c.375G>A	c.(373-375)cgG>cgA	p.R125R	KIAA0195_uc002jnz.4_Silent_p.R115R	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	115					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCATCGGGCGGCAAGACCGGC	0.597000														213			5		0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53264508	53264508	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:53264508G>A	uc003dgo.3	-	7	1244	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	TKT_uc003dgp.2_5'UTR|TKT_uc011beo.1_Missense_Mutation_p.R311C|TKT_uc003dgq.3_Missense_Mutation_p.R358C|TKT_uc011beq.2_Missense_Mutation_p.R366C|TKT_uc011ber.2_Missense_Mutation_p.R160C	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	358					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TCGATGAAGCGGTCCGGGTGC	0.602000														59			18		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35236569	35236569	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:35236569C>T	uc003zwr.3	+	3	548	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	UNC13B_uc010mkl.1_Missense_Mutation_p.R86C|UNC13B_uc003zwq.3_Missense_Mutation_p.R86C	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	86					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGACTATTCGTCAGTCGGA	0.498000														113			30		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62713308	62713308	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:62713308C>T	uc001dah.4	-	8	3096	c.2719G>A	c.(2719-2721)Gac>Aac	p.D907N	KANK4_uc001dai.4_Missense_Mutation_p.D279N|KANK4_uc001daf.4_Missense_Mutation_p.D45N|KANK4_uc001dag.4_Missense_Mutation_p.D263N	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	907								p.D907N(2)		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						TCCTCCCTGTCGTGGCTGACT	0.622000														70			16		0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509528	28509528	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:28509528G>A	uc002dqb.2	+	2	3115	c.3082G>A	c.(3082-3084)Gag>Aag	p.E1028K	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.E557K	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	1019					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCAGCAGGAGGAGCCCCCAGC	0.662000														15			4		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813545	60813545	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:60813545G>A	uc010dds.3	-	6	2083	c.1798C>T	c.(1798-1800)Ctc>Ttc	p.L600F	MARCH10_uc010ddr.3_Missense_Mutation_p.L562F|MARCH10_uc002jag.4_Missense_Mutation_p.L562F|MARCH10_uc002jah.2_Missense_Mutation_p.L561F|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	562							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTTAGTAAGAGATCTGTATAT	0.443000														97			47		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22785447	22785447	+	RNA	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:22785447G>A	uc002nqu.4	+	7		c.1536G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		GGACCTGAAAGAGCGGGTGGA	0.602000														88			25		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77244459	77244459	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:77244459G>A	uc003hkb.4	-	22	3414	c.3261C>T	c.(3259-3261)aaC>aaT	p.N1087N		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	1087										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						CTGTACCTTGGTTCTTCAGCT	0.433000														117			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089422	9089422	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9089422G>A	uc002mkp.3	-	0	2597	c.2393C>T	c.(2392-2394)tCa>tTa	p.S798L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	798	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S798L(3)		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						CTCTTCCCCTGATGGAGATGG	0.522000														146			50		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102195860	102195860	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:102195860G>A	uc003dvt.1	+	9	1195	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	ZPLD1_uc003dvs.1_Silent_p.E349E|ZPLD1_uc011bhg.1_Silent_p.E349E	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	349						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CCTCAGATGAGACTCCAACCA	0.303000														49			12		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180209	124180209	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:124180209C>T	uc010sag.2	-	0	454	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAGAGAAAGCCCAAGAAGAAG	0.468000														25			11		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39425173	39425173	+	Missense_Mutation	SNP	A	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:39425173A>T	uc001uwv.3	+	9	6979	c.6670A>T	c.(6670-6672)Agc>Tgc	p.S2224C	FREM2_uc001uww.3_Missense_Mutation_p.S310C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2224					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACTCCACAAAGCAACTCTCC	0.468000														61			15		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565265	58565265	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:58565265G>A	uc002qrc.1	+	5	1320	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	358					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGGGCCCCCGGGAGTCCGTC	0.662000														23			8		0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533577	88533578	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:88533577_88533578GG>AA	uc003hqu.3	+	3	359_360	c.239_240GG>AA	c.(238-240)ggg>gAA	p.G80E		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	80					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGGGAGAAGGGAATGGCTCTA	0.470000														22			9		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343781	248343782	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:248343781_248343782CC>TT	uc010pzf.2	+	0	494_495	c.494_495CC>TT	c.(493-495)tcc>tTT	p.S165F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCACATTTTCCTTCTCCTTTT	0.421000														274			157		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567951	140567951	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140567951C>T	uc003liw.1	+	0	1059	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	353	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCACTTTCCAACTCTGTTG	0.398000														34			9		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133219489	133219489	+	Missense_Mutation	SNP	G	A	A	rs147500308		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:133219489G>A	uc001uks.1	-	35	4689	c.4645C>T	c.(4645-4647)Ccc>Tcc	p.P1549S	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.P353S|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1549					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTGTGTTTGGGGGGTGGCAGG	0.612000								DNA polymerases (catalytic subunits)						67			18		0	0	1	0	0
ACVR2A	92	broad.mit.edu	37	2	148683722	148683722	+	Nonsense_Mutation	SNP	A	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:148683722A>T	uc002twg.3	+	10	1608	c.1339A>T	c.(1339-1341)Aaa>Taa	p.K447*	ACVR2A_uc010zbn.2_Nonsense_Mutation_p.K339*|ACVR2A_uc002twh.3_Nonsense_Mutation_p.K447*	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	447	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTATTGGCAGAAACATGCTGT	0.363000														66			16		0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179333833	179333833	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:179333833C>T	uc003fkc.3	+	2	305	c.276C>T	c.(274-276)ttC>ttT	p.F92F	NDUFB5_uc021xhu.1_Silent_p.F92F|NDUFB5_uc003fke.3_Intron|NDUFB5_uc003fkd.3_Non-coding_Transcript	NM_002492	NP_002483	O43674	NDUB5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	92					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TGAATGTATTCATTGGTAAGT	0.323000														30			15		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33502473	33502473	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:33502473G>A	uc001iwx.4	-	8	1978	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L	NRP1_uc001iwv.4_Silent_p.L485L|NRP1_uc001iwy.4_Silent_p.L485L|NRP1_uc009xlz.3_Silent_p.L485L|NRP1_uc001iww.4_Silent_p.L304L|NRP1_uc001iwz.2_Silent_p.L485L|NRP1_uc001ixa.2_Silent_p.L485L|NRP1_uc001ixb.2_Silent_p.L485L|NRP1_uc001ixc.1_Silent_p.L485L	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	485	F5/8 type C 2.				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)	GGTCTATTTGGAGCCACTCAT	0.537000														80			32		0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202566040	202566040	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:202566040C>T	uc001gye.3	-	8	1298	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	SYT2_uc010pqb.2_Missense_Mutation_p.E369K|SYT2_uc009xaf.3_Missense_Mutation_p.E199K	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	369	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCTATGGCTTCGTTCTTGCCC	0.607000														80			62		0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19552122	19552122	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:19552122C>T	uc002rdc.3	-	2	1018	c.715G>A	c.(715-717)Gga>Aga	p.G239R		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA.	239					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TGGCAGAATCCTTTCCCACAC	0.453000														85			19		0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43628323	43628323	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:43628323C>T	uc003joe.3	+	6	1053	c.798C>T	c.(796-798)ttC>ttT	p.F266F	NNT_uc003jof.3_Silent_p.F266F	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	266					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGGAACAGTTCAAGTCTCTTG	0.428000														98			26		0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114523781	114523781	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:114523781C>T	uc001eer.1	+	2	720	c.611C>T	c.(610-612)cCc>cTc	p.P204L	OLFML3_uc001ees.1_Missense_Mutation_p.P184L|OLFML3_uc001eet.1_Missense_Mutation_p.P60L	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	204	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-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)		GTCCGGGTGCCCTTCCCCTGG	0.572000														33			14		0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119526124	119526124	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:119526124G>A	uc003edj.3	+	1	1866	c.27G>A	c.(25-27)tgG>tgA	p.W9*	NR1I2_uc003edi.3_Nonsense_Mutation_p.W9*|NR1I2_uc003edk.3_Nonsense_Mutation_p.W48*	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	9					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.W48C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	AAGAAAGCTGGAACCATGCTG	0.502000														67			13		0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30118271	30118271	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:30118271C>T	uc003taq.3	+	13	1830	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	PLEKHA8_uc022aba.1_Intron|PLEKHA8_uc003tan.3_Intron	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	476					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGGAAGGTGACCACCAGAAAG	0.478000														59			22		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79372965	79372965	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:79372965G>A	uc003hlb.2	+	45	6943	c.6503G>A	c.(6502-6504)gGg>gAg	p.G2168E		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2167					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						GAACCTGGAGGGAGCTTTGCT	0.368000														33			5		0	0	1	0	0
SNAPC2	6618	broad.mit.edu	37	19	7986621	7986621	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:7986621G>A	uc002miw.2	+	2	393	c.335G>A	c.(334-336)gGg>gAg	p.G112E	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	112					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						AAGATAACAGGGCCACTGGAA	0.612000														9			8		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873937	36873937	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:36873937C>T	uc003cgj.3	-	20	7253	c.7005G>A	c.(7003-7005)agG>agA	p.R2335R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2335					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCCTTTTATCCTGCTGCCTC	0.488000														98			20		0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142636792	142636792	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142636792C>T	uc003wca.2	+	0	190	c.149C>T	c.(148-150)cCt>cTt	p.P50L		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	25						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CAGGTGAAGCCTCTGAACGGG	0.597000														110			14		0	0	1	0	0
CDCA4	55038	broad.mit.edu	37	14	105477976	105477976	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:105477976G>A	uc021sep.1	-	0	291	c.291C>T	c.(289-291)tcC>tcT	p.S97S	CDCA4_uc001yqa.2_Silent_p.S97S|CDCA4_uc001yqb.2_Silent_p.S97S	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	97						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		GGATCTCCGTGGAGACCAAGC	0.667000														47			13		0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48728832	48728832	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:48728832G>A	uc003cuq.3	-	3	973	c.512C>T	c.(511-513)tCc>tTc	p.S171F	IP6K2_uc003cup.3_Missense_Mutation_p.S171F	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	171					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TTTAAGCTGGGAACTTATATT	0.388000														83			26		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892578	166892578	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:166892578C>T	uc002udo.4	-	17	3636	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N	SCN1A_uc010fpk.3_Missense_Mutation_p.D1109N|SCN1A_uc021vsb.1_Missense_Mutation_p.D1126N	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1137						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)	TCTTCCAGATCCGATTCACTA	0.363000														85			16		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:5345040G>A	uc001mao.1	-	0	543	c.488C>T	c.(487-489)tCa>tTa	p.S163L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATGAAAATGAAAAAAGACG	0.398000														67			28		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6898475	6898475	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:6898475G>A	uc002knc.3	+	16	5126	c.1915G>A	c.(1915-1917)Gga>Aga	p.G639R	ARHGAP28_uc002kne.3_Intron|ARHGAP28_uc010wzi.2_Intron|ARHGAP28_uc002knf.3_Missense_Mutation_p.G523R	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	0					signal transduction	intracellular				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)				cttcctaaatggaaaatgggt	0.418000														52			34		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13867922	13867922	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:13867922G>A	uc003jfd.2	-	24	4056	c.4014C>T	c.(4012-4014)ttC>ttT	p.F1338F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1338	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F1338F(2)		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)					AATCTTGGAGGAATACCTCCA	0.453000									Kartagener syndrome					112			30		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89971984	89971984	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:89971984G>A	uc003kju.3	+	24	5497	c.5401G>A	c.(5401-5403)Gaa>Aaa	p.E1801K	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1801	Calx-beta 12.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTGAACTGGAAAAATCTTT	0.318000														18			5		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617042	1617042	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:1617042C>T	uc002wfm.1	-	2	605	c.540G>A	c.(538-540)ctG>ctA	p.L180L	SIRPG_uc002wfn.1_Silent_p.L180L|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	180	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGAACCATTTCAGGGTGATGT	0.577000														84			43		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152384585	152384585	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152384585G>A	uc001ezx.2	-	1	199	c.125C>T	c.(124-126)gCc>gTc	p.A42V		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	42					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATCACATCGGCAAACTCTTG	0.572000														187			24		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515291	26515291	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:26515291G>A	uc001bln.4	+	19	1798	c.1740G>A	c.(1738-1740)atG>atA	p.M580I	CNKSR1_uc001blm.4_Missense_Mutation_p.M573I|CNKSR1_uc009vsd.3_Missense_Mutation_p.M315I|CNKSR1_uc009vse.3_Missense_Mutation_p.M315I|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	580					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)		TGGAAGGAATGGTACGGGGGC	0.657000														83			17		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115860	8115860	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:8115860C>T	uc001ijz.3	+	5	1766	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	GATA3_uc001ika.3_Silent_p.S402S	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	402					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding	p.S403fs*>43(1)|p.S403F(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACATGTCCTCCCTGAGCCACA	0.582000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							74			24		0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744236	744236	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:744236G>A	uc002wed.4	-	2	1318	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	SLC52A3_uc002wee.2_Silent_p.L327L	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	327					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										CCATAGGACAGGCAGGAGTAG	0.622000														102			58		0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211451545	211451545	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:211451545G>A	uc010psw.2	+	5	798	c.603G>A	c.(601-603)caG>caA	p.Q201Q	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Silent_p.Q201Q|RCOR3_uc001hif.3_Silent_p.Q201Q|RCOR3_uc001hig.3_Silent_p.Q143Q	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	143					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)		TGGATCGCCAGGCTCGTAAAC	0.363000														195			22		0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680248	6680248	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:6680248C>T	uc001aob.4	+	2	898	c.527C>T	c.(526-528)cCc>cTc	p.P176L		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	176					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		TCCGATACTCCCTCGAGTGGA	0.587000														29			7		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472265	47472265	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:47472265C>T	uc001rpm.3	-	2	1176	c.521G>A	c.(520-522)gGa>gAa	p.G174E	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.G174E|AMIGO2_uc001rpl.3_Missense_Mutation_p.G174E|AMIGO2_uc021qxg.1_Missense_Mutation_p.G174E	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	174					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GAGAAAATTTCCACTTAAGTA	0.413000														60			13		0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	T	T	rs367060		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:16946434C>T	uc010ocf.2	-	2		c.464G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTCAGCCTTCCGCCGGGCCAG	0.672000														28			5		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25976476	25976476	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:25976476G>A	uc002rgs.2	-	9	1290	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	ASXL2_uc002rgt.1_Nonsense_Mutation_p.R97*	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.R97*(1)|p.R357*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCTTGTCGAATTCTCACC	0.358000														94			29		0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389858	150389858	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:150389858G>A	uc003who.3	+	2	572	c.484G>A	c.(484-486)Gac>Aac	p.D162N		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	162						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTACATGCACGACTCAGATAA	0.502000														43			50		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478892	110478892	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:110478892C>T	uc003yne.3	+	49	8603	c.8499C>T	c.(8497-8499)ttC>ttT	p.F2833F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2833					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S2832N(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCATTGGGTTCCCTGGATCAG	0.478000										HNSCC(38;0.096)				13			9		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20328586	20328586	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:20328586G>A	uc002dgv.3	-	8	1457	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	GP2_uc002dgw.3_Silent_p.F455F|GP2_uc002dgx.3_Silent_p.F311F|GP2_uc002dgy.3_Silent_p.F308F	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	458	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACAATGCAGGAAAACTAGGT	0.483000														27			11		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28796068	28796068	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:28796068C>T	uc002rmb.2	+	20	1373	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	PLB1_uc010ezj.2_Silent_p.I454I|PLB1_uc002rmc.3_Silent_p.I131I|PLB1_uc002rmd.1_5'UTR	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	443	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTGCAGACATCCTCCGGGAAT	0.493000														19			4		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562937	179562937	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:179562937G>A	uc010pnp.2	+	2	1093	c.575G>A	c.(574-576)aGa>aAa	p.R192K	TDRD5_uc021pfm.1_Missense_Mutation_p.R192K|TDRD5_uc001gnf.2_Missense_Mutation_p.R192K|TDRD5_uc021pfn.1_Missense_Mutation_p.R192K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	192	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.T191T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGCAGACCAGAGCAGGTTCT	0.433000														83			6		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109794937	109794937	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:109794937C>T	uc001dxa.4	+	0	2297	c.2236C>T	c.(2236-2238)Cgc>Tgc	p.R746C		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	746	Cadherin 6.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGAGAATGCCCGCATCACCTA	0.582000														31			6		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109721	98109721	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:98109721C>T	uc011bgw.2	+	0	212	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGATGGATTCCTGCTGTTCC	0.393000														220			78		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69972245	69972245	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:69972245C>T	uc001opj.3	+	9	1346	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.I319I|ANO1_uc010rqk.2_Silent_p.I82I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	347					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CTGCCTCCATCGTGGGAATCA	0.592000														49			14		0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113821969	113821969	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:113821969C>T	uc001tve.2	+	6	1052	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	PLBD2_uc001tvf.2_Silent_p.P339P	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	339					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATGTGCGGCCCAGGGGCTGTG	0.617000														31			12		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134093	128134093	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:128134093C>T	uc011ebt.2	-	3	1842	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	THEMIS_uc010kfa.3_Missense_Mutation_p.E468K|THEMIS_uc021zfa.1_Missense_Mutation_p.E565K|THEMIS_uc010kfb.3_Missense_Mutation_p.E530K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	565					T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AACTTTGTTTCCTCTACTGAG	0.483000														89			35		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20134933	20134933	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:20134933G>A	uc010nfo.2	-	0	182	c.65C>T	c.(64-66)tCt>tTt	p.S22F	MAP7D2_uc011mji.2_5'Flank|MAP7D2_uc004czr.2_Missense_Mutation_p.S22F|MAP7D2_uc011mjj.2_Missense_Mutation_p.S22F	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	22										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CCCTGGGAGAGAGGTTCCCCG	0.726000														6			7		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682129	69682129	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:69682129C>T	uc003hee.3	+	0	417	c.392C>T	c.(391-393)tCa>tTa	p.S131L	UGT2B10_uc011cam.2_Missense_Mutation_p.S131L	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	131					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						GATGTAGTTTCAAATAAGAAA	0.328000														51			12		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513111	99513111	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:99513111C>T	uc003dti.1	+	2	497	c.369C>T	c.(367-369)ccC>ccT	p.P123P	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.P122P|COL8A1_uc003dth.1_Silent_p.P122P	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	122	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AACAAGGTCCCCGTGGAGAGC	0.532000														33			4		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026428	197026428	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:197026428G>A	uc001gtt.1	-	5	1017	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	325	Sushi 5.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATGCATTTTGGAGGTTCTGTC	0.363000														130			27		0	0	1	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922376	108922376	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:108922376G>A	uc001vqr.3	+	0	400	c.133G>A	c.(133-135)Gga>Aga	p.G45R	TNFSF13B_uc010agj.3_Missense_Mutation_p.G45R	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B), transcript variant 1, mRNA.	45					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			CTCCAAAGACGGAAAGCTGCT	0.552000														178			56		0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61094299	61094299	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:61094299G>A	uc001nrc.4	-	4	842	c.616C>T	c.(616-618)Cct>Tct	p.P206S	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.P206S|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Missense_Mutation_p.P206S|DDB1_uc009ynl.1_Missense_Mutation_p.P93S	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	206	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTTTCCAAGGGCCCTTATTG	0.522000								Nucleotide excision repair (NER)						183			37		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56149244	56149244	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:56149244G>A	uc002lhj.4	-	12	6538	c.6324C>T	c.(6322-6324)tcC>tcT	p.S2108S		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2108	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAAGGTCATGGAACAGTTGC	0.378000														58			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064379	9064379	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9064379G>A	uc002mkp.3	-	2	23271	c.23067C>T	c.(23065-23067)tcC>tcT	p.S7689S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7691	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						AAGACAGCGGGGAGGATGGAG	0.557000														59			16		0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	G	G	rs144273946	by1000genomes	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:197348674A>G	uc011bug.2	-	3		c.417T>C			LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		GGCTCTGTCCACCAAATGCAC	0.478000														114			4		0	0	1	0	0
MSANTD1	345222	broad.mit.edu	37	4	3251111	3251111	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:3251111C>T	uc003ggs.3	+	0	345	c.162C>T	c.(160-162)ctC>ctT	p.L54L		NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN	Homo sapiens chromosome 4 open reading frame 44 (C4orf44), mRNA.	54										endometrium(1)|lung(2)	3						TGCGCGGCCTCATGCTGGTCT	0.677000														7			6		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117245849	117245849	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:117245849C>T	uc003pxm.3	+	14	1636	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	525					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.R525*(2)|p.R525Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCATTTGATTCGAATGCTTCT	0.388000														39			16		0	0	1	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572002	186572002	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:186572002G>A	uc010hyy.3	+	3	379	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	ADIPOQ_uc003fra.3_Missense_Mutation_p.E82K	NM_001177800	NP_004788	Q15848	ADIPO_HUMAN	Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), transcript variant 1, mRNA.	82	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of blood pressure|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		AGACATCGGTGAAACCGGAGT	0.507000														33			16		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645562	7645562	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:7645562C>T	uc002cys.2	+	7	1468	c.480C>T	c.(478-480)ttC>ttT	p.F160F	RBFOX1_uc010buf.1_Silent_p.F160F|RBFOX1_uc002cyr.1_Silent_p.F159F|RBFOX1_uc002cyt.2_Silent_p.F160F|RBFOX1_uc010uxz.1_Silent_p.F203F|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Silent_p.F160F|RBFOX1_uc010uyb.1_Silent_p.F160F|RBFOX1_uc002cyw.2_Silent_p.F180F|RBFOX1_uc002cyy.2_Silent_p.F180F|RBFOX1_uc002cyx.2_Silent_p.F180F|RBFOX1_uc010uyc.1_Silent_p.F180F	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	160	RRM.	Interaction with RNA.			RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GATTTGGTTTCGTAACTTTCG	0.443000														85			18		0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268115	103268115	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:103268115C>T	uc004elr.3	-	0	142	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	40					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						ATCAGCTGTTCCTCAGAGGTC	0.637000														13			11		0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213792	200213792	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:200213792C>T	uc002uuy.2	-	6	1622	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	SATB2_uc010fsq.2_Missense_Mutation_p.E151K|SATB2_uc002uva.2_Missense_Mutation_p.E269K|SATB2_uc002uuz.2_Missense_Mutation_p.E269K|SATB2_uc002uvb.1_Missense_Mutation_p.E12K	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	269						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGAGACTGTTCGTTGGTTTTC	0.498000														55			13		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388918	4388918	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:4388918G>A	uc010qye.2	-	0	699	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F202I(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTAGAATGGAAAACCCATA	0.383000														44			14		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10430069	10430069	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:10430069C>T	uc003bvt.3	-	5	1238	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	ATP2B2_uc003bvv.3_Missense_Mutation_p.G267S|ATP2B2_uc003bvw.3_Missense_Mutation_p.G267S|ATP2B2_uc010hdp.2_Missense_Mutation_p.G267S|ATP2B2_uc010hdo.3_Missense_Mutation_p.G3S	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	267					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTCCTGAGCCCTCCATCACG	0.522000														95			32		0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31669308	31669308	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:31669308G>A	uc001mtc.3	+	7	982	c.947G>A	c.(946-948)cGt>cAt	p.R316H	ELP4_uc001mtb.3_Missense_Mutation_p.R316H|ELP4_uc010rdz.2_Missense_Mutation_p.R317H			Q96EB1	ELP4_HUMAN	Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.	316					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|cytoplasm|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ATTATTGCCCGTGTCACAACC	0.333000														71			22		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472691	39472691	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:39472691C>T	uc003thb.2	+	7	1185	c.1042C>T	c.(1042-1044)Cca>Tca	p.P348S	POU6F2_uc022acb.1_Missense_Mutation_p.P348S	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	348	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CGGGACCATTCCACTGATGCC	0.587000														47			22		0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090746	238090746	+	RNA	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:238090746C>T	uc010pyc.2	+	11		c.2252C>T								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		ACCACCTCGGCCCAGCGGGAG	0.617000														20			10		0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119772	3119772	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:3119772C>T	uc010vrc.2	+	0	858	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F286S(1)|p.P285S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TAAATCCTTTCATCTACAGTC	0.473000														102			21		0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21945200	21945200	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:21945200G>A	uc010kuk.3	-	6	1091	c.971C>T	c.(970-972)cCa>cTa	p.P324L	CDCA7L_uc003sve.4_Missense_Mutation_p.P290L|CDCA7L_uc010kul.3_Missense_Mutation_p.P278L|CDCA7L_uc003svf.4_Missense_Mutation_p.P323L	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	324					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ATCCTCCACTGGCCGAAAAGA	0.398000														58			29		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758031	111758031	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:111758031G>A	uc001tsa.2	+	16	2372	c.2218G>A	c.(2218-2220)Ggg>Agg	p.G740R		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	740						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGCCAGAACGGGGCCCCGGC	0.761000														8			3		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	275031	275031	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:275031G>A	uc001qhw.2	+	10	2946	c.2946G>A	c.(2944-2946)acG>acA	p.T982T	IQSEC3_uc001qhu.1_Silent_p.T679T	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	982	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTGAGGTGACGGAGCTGGAGC	0.597000														40			12		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483477	19483477	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:19483477G>A	uc003jgd.3	-	11	2349	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F	CDH18_uc011cnm.2_Missense_Mutation_p.S569F|CDH18_uc003jgc.3_Silent_p.F605F|CDH18_uc021xwu.1_Missense_Mutation_p.S570F	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	605	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCGAGGACAGGAAGGCTTCTG	0.522000														25			9		0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	13980118	13980118	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:13980118C>T	uc002gof.4	+	2	448	c.244C>T	c.(244-246)Cct>Tct	p.P82S	COX10_uc010vvs.2_Intron|COX10_uc010vvt.2_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	82					heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AGTAGCATCTCCTTTCCTTGA	0.423000														46			11		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9453992	9453992	+	Silent	SNP	C	T	T	rs6140947		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:9453992C>T	uc021wam.1	+	33	3454	c.3439C>T	c.(3439-3441)Cta>Tta	p.L1147L	PLCB4_uc010gbx.3_Silent_p.L1159L|PLCB4_uc021wal.1_Silent_p.L1147L|PLCB4_uc002wnh.3_Silent_p.L994L	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1147					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						TCTAGAATTCCTAGAGAAACA	0.388000														53			27		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58240625	58240625	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:58240625C>T	uc001vhq.1	+	1	3481	c.2589C>T	c.(2587-2589)ccC>ccT	p.P863P	PCDH17_uc010aec.1_Silent_p.P863P|PCDH17_uc001vhr.1_5'Flank	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	863					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGCAGAGCCCAATTACATGG	0.413000														37			10		0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74741550	74741550	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:74741550G>A	uc002axw.1	-	8	1021	c.859C>T	c.(859-861)Cac>Tac	p.H287Y	UBL7_uc002axx.1_Missense_Mutation_p.H327Y|UBL7_uc002axy.1_Missense_Mutation_p.H287Y|UBL7_uc002axz.1_Missense_Mutation_p.H287Y	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	287							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTCGGTGTGTGAGAGCTGCTC	0.647000														56			8		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921301	247921301	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:247921301C>T	uc010pza.2	-	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCACAGGTTCATTCTGGCGG	0.493000														78			16		0	0	1	0	0
LY6H	4062	broad.mit.edu	37	8	144239833	144239833	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:144239833G>A	uc003yxt.3	-	2	1118	c.371C>T	c.(370-372)tCa>tTa	p.S124L	LY6H_uc011lka.2_Missense_Mutation_p.S86L|LY6H_uc011lkb.2_Missense_Mutation_p.S107L|LY6H_uc011lkc.2_Missense_Mutation_p.S107L			O94772	LY6H_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus H (LY6H), transcript variant 3, mRNA.	86					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGATAGTCTGAGAAAAAGTG	0.547000														91			36		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121720627	121720627	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:121720627C>T	uc003ees.3	-	3	667	c.464G>A	c.(463-465)gGa>gAa	p.G155E	ILDR1_uc003eeq.3_Missense_Mutation_p.G167E|ILDR1_uc003eer.3_Missense_Mutation_p.G155E|ILDR1_uc010hrg.3_Intron	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	155	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ATCGGGGTCTCCTGATGTGTC	0.483000														81			29		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069895	9069895	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9069895G>A	uc002mkp.3	-	2	17755	c.17551C>T	c.(17551-17553)Cct>Tct	p.P5851S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5853	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F5850I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTACAAAAGGAAAAGTGGAG	0.478000														149			38		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41648069	41648069	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:41648069C>T	uc002yyq.1	-	10	2763	c.2311G>A	c.(2311-2313)Gat>Aat	p.D771N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	771	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCGCCCACATCGTTGCTGACC	0.483000														48			18		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063712	73063712	+	RNA	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:73063712G>A	uc004ebm.1	-	0		c.8877C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TACTACAAAGGAAAGGTGATG	0.398000														10			12		0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76128663	76128663	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:76128663C>T	uc003keo.3	+	1	406	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	77					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CCACTGTCTTCCTTCCAATTG	0.468000														116			35		0	0	1	0	0
HEATR7A	727957	broad.mit.edu	37	8	145235383	145235383	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:145235383G>A	uc003zbk.4	+	6	756	c.519G>A	c.(517-519)ctG>ctA	p.L173L	HEATR7A_uc003zbg.2_Silent_p.L173L|HEATR7A_uc003zbi.4_Silent_p.L173L|HEATR7A_uc003zbh.4_Silent_p.L173L|HEATR7A_uc011lla.1_Silent_p.L173L|HEATR7A_uc010mft.3_Silent_p.L173L	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	Homo sapiens HEAT repeat containing 7A (HEATR7A), transcript variant 1, mRNA.	173							binding			endometrium(2)|kidney(2)|lung(3)|skin(1)	8						TGCCCGTGCTGGGCGTGGCCA	0.657000														66			31		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958662	78958662	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:78958662C>T	uc001din.3	+	1	500	c.234C>T	c.(232-234)ttC>ttT	p.F78F	PTGFR_uc001dim.3_Silent_p.F78F	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	78					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TCACTGATTTCTTTGGCCATC	0.428000														89			23		0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305409	121305409	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:121305409C>T	uc003eef.3	+	4	1005	c.910C>T	c.(910-912)Cag>Tag	p.Q304*		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	304						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CCTGGAATTCCAGAAAACCTC	0.433000														57			20		0	0	1	0	0
EFCAB2	84288	broad.mit.edu	37	1	245246775	245246775	+	Nonsense_Mutation	SNP	C	T	T	rs149676779		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:245246775C>T	uc001ibd.2	+	5	844	c.703C>T	c.(703-705)Cga>Tga	p.R235*	EFCAB2_uc001ibc.2_Nonsense_Mutation_p.R99*|EFCAB2_uc010pyo.1_Nonsense_Mutation_p.R109*|EFCAB2_uc010pyp.1_Nonsense_Mutation_p.R99*|EFCAB2_uc001ibe.2_Non-coding_Transcript			Q5VUJ9	EFCB2_HUMAN	Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant 3, non-coding RNA.	235	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			TGTCCTTCTTCGAGCTTTTGA	0.299000														57			38		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176169	112176169	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:112176169C>T	uc003kpz.4	+	16	5071	c.4878C>T	c.(4876-4878)ccC>ccT	p.P1626P	APC_uc011cvt.2_Silent_p.P1608P|APC_uc003kpy.4_Silent_p.P1626P|APC_uc010jbz.3_Silent_p.P1343P|APC_uc010jca.3_Silent_p.P926P	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1626	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.K1192fs*3(1)|p.?(1)|p.Q1625*(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)		GGTTGCAACCCCAAAAGCATG	0.463000		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)				142			31		0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113675236	113675236	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:113675236C>T	uc002tij.3	+	3	332	c.290C>T	c.(289-291)tCc>tTc	p.S97F	IL37_uc002tim.3_Missense_Mutation_p.S36F|IL37_uc002tik.3_Missense_Mutation_p.S76F|IL37_uc002til.3_Missense_Mutation_p.S57F|IL37_uc002tin.3_Missense_Mutation_p.S71F	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	97					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TTAGCCTCATCCTTGAGCTCA	0.493000														237			58		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48761025	48761025	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:48761025G>A	uc002isl.3	+	26	3942	c.3862G>A	c.(3862-3864)Gag>Aag	p.E1288K	ABCC3_uc002isn.3_Missense_Mutation_p.E42K	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1288					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCACGTGGGGAGGTGGAGTT	0.657000														99			12		0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1956077	1956077	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:1956077C>T	uc001luu.4	+	13	821	c.609C>T	c.(607-609)ctC>ctT	p.L203L	TNNT3_uc001lun.2_Silent_p.L99L|TNNT3_uc001luw.4_Silent_p.L195L|TNNT3_uc001luo.4_Silent_p.L195L|TNNT3_uc001lup.4_Silent_p.L201L|TNNT3_uc001luq.4_Silent_p.L195L|TNNT3_uc001lur.3_Silent_p.L195L|TNNT3_uc010qxf.2_Silent_p.L201L|TNNT3_uc010qxg.2_Silent_p.L135L	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	214					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CCAAGGAGCTCTGGGAGACCC	0.612000														161			35		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9057341	9057341	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:9057341G>A	uc003brf.1	-	14	2429	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	SRGAP3_uc003brg.1_Nonsense_Mutation_p.R561*|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	585	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCAGTCCTCGGAAATACAGT	0.388000			T	RAF1	pilocytic astrocytoma									47			19		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47303197	47303197	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:47303197C>T	uc001ner.1	+	7	1553	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	MADD_uc001neq.2_Silent_p.I454I|MADD_uc001nev.1_Silent_p.I454I|MADD_uc001nes.1_Silent_p.I454I|MADD_uc001net.1_Silent_p.I454I|MADD_uc009yln.1_Silent_p.I454I|MADD_uc001neu.1_Silent_p.I454I|MADD_uc001nez.2_Silent_p.I454I|MADD_uc001new.2_Silent_p.I454I|MADD_uc001nex.2_Silent_p.I454I	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	454					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCCAGGAGATCCCCCTTCTCT	0.498000														33			17		0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69370143	69370143	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:69370143C>T	uc004dxv.3	+	4	1341	c.842C>T	c.(841-843)cCg>cTg	p.P281L	IGBP1_uc004dxw.3_Missense_Mutation_p.P281L	NM_001551	NP_001542	P78318	IGBP1_HUMAN	Homo sapiens immunoglobulin (CD79A) binding protein 1 (IGBP1), mRNA.	281					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GGAGCATTACCGGATCAGGGA	0.468000														16			8		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622578	38622578	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:38622578C>T	uc021wvo.1	-	15	3124	c.3072G>A	c.(3070-3072)aaG>aaA	p.K1024K	SCN5A_uc021wvk.1_Silent_p.K1024K|SCN5A_uc021wvl.1_Silent_p.K1024K|SCN5A_uc021wvm.1_Silent_p.K1024K|SCN5A_uc021wvn.1_Silent_p.K1024K|SCN5A_uc021wvp.1_Silent_p.K1024K|SCN5A_uc021wvq.1_Silent_p.K1024K|SCN5A_uc021wvr.1_Silent_p.K1024K|SCN5A_uc021wvs.1_Silent_p.K1024K|SCN5A_uc021wvt.1_Silent_p.K1024K|SCN5A_uc021wvu.1_Silent_p.K1024K|SCN5A_uc021wvv.1_Silent_p.K1024K|SCN5A_uc021wvj.1_Silent_p.K890K|SCN5A_uc021wvi.1_Silent_p.K890K|SCN5A_uc021wvw.1_Silent_p.K635K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1024					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACCGTGTTTCCTTGCGGGTGG	0.682000														29			6		0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30198041	30198041	+	Splice_Site	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:30198041G>A	uc010bzq.3	+	4	756	c.321_splice	c.e4+1	p.M107_splice	BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.2_Splice_Site_p.M107_splice|CORO1A_uc002dww.3_Splice_Site_p.M107_splice|CORO1A_uc002dwx.3_Splice_Site_p.M1_splice|CORO1A_uc002dwy.1_5'UTR|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	107					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GCACAGTCATGGTGAGTGGTG	0.622000														15			10		0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119336969	119336969	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:119336969G>A	uc003ecu.3	+	6	924	c.858G>A	c.(856-858)aaG>aaA	p.K286K	PLA1A_uc003ecv.3_Silent_p.K270K|PLA1A_uc011bjc.2_Silent_p.K113K|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	286					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGCTACAAGGCCTTCCTTG	0.498000														245			66		0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34558811	34558811	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:34558811G>A	uc010qej.2	-	21	3532	c.3202C>T	c.(3202-3204)Cga>Tga	p.R1068*	PARD3_uc010qep.2_Nonsense_Mutation_p.R978*|PARD3_uc010qeq.2_Nonsense_Mutation_p.R956*|PARD3_uc010qek.2_Nonsense_Mutation_p.R1065*|PARD3_uc010qel.2_Nonsense_Mutation_p.R1031*|PARD3_uc010qem.2_Nonsense_Mutation_p.R1052*|PARD3_uc010qen.2_Nonsense_Mutation_p.R1022*|PARD3_uc010qeo.2_Nonsense_Mutation_p.R985*	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	1068					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.R1068Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTAAATTCTCGAGTTTTGGCT	0.368000														16			8		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966538	2966538	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:2966538G>A	uc021tns.1	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(3)		kidney(1)|lung(10)	11						GCCACATAGCGATCATACGCC	0.567000														45			9		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923763	24923764	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:24923763_24923764GG>AA	uc001ywo.3	+	0	3223_3224	c.2749_2750GG>AA	c.(2749-2751)ggg>AAg	p.G917K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	917					cell differentiation|multicellular organismal development|spermatogenesis			p.L916M(1)|p.G917G(1)		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)		TTTTATTCTGGGGAATCCAGCA	0.475000														109			29		0	0	1	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62328320	62328320	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:62328320C>T	uc002yfy.3	+	4	828	c.200C>T	c.(199-201)cCc>cTc	p.P67L	RTEL1_uc002yfu.2_3'UTR|RTEL1_uc011abd.2_3'UTR|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_3'UTR|RTEL1_uc021wge.1_3'UTR|RTEL1_uc002yfx.1_3'UTR|TNFRSF6B_uc002yfz.3_Missense_Mutation_p.P67L	NM_003823	NP_003814	O95407	TNF6B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), mRNA.	67					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGAGACAGCCCCACGACGTGT	0.697000														16			3		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629800	1629800	+	Missense_Mutation	SNP	T	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:1629800T>G	uc002wfm.1	-	1	393	c.328A>C	c.(328-330)Acc>Ccc	p.T110P	SIRPG_uc002wfn.1_Missense_Mutation_p.T110P|SIRPG_uc002wfo.1_Missense_Mutation_p.T110P	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	110	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCTGCTGGGGTGATGCTACTG	0.478000														115			29		0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120979028	120979028	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:120979028G>A	uc003vjw.3	+	3	984	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	WNT16_uc003vjv.3_Missense_Mutation_p.E233K|WNT16_uc010lkl.3_Missense_Mutation_p.E27K	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	243					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GTCTTCTTTTGAAAAGATTGG	0.433000														78			13		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878096	150878096	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:150878096C>T	uc003wjm.1	-	2	1295	c.1034G>A	c.(1033-1035)aGc>aAc	p.S345N	ASB10_uc003wjl.1_Missense_Mutation_p.S345N|ASB10_uc003wjn.1_Missense_Mutation_p.S330N	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	345					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCTCGGGGCTCTGGGCCAG	0.687000														66			8		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107823014	107823014	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:107823014G>A	uc001vql.3	-	2	1724	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	403						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CACTGTGAGCGATGTCCTGTG	0.478000														30			7		0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45706829	45706829	+	Nonsense_Mutation	SNP	A	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:45706829A>T	uc001zve.3	+	3	1604	c.1495A>T	c.(1495-1497)Aag>Tag	p.K499*	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	499						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GACACAACCAAAGGGAGTTCT	0.478000														44			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424820	179424820	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179424820C>T	uc021vsy.1	-	274	78560	c.78335G>A	c.(78334-78336)gGg>gAg	p.G26112E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G19807E|TTN_uc021vta.1_Missense_Mutation_p.G19740E|TTN_uc021vtb.1_Missense_Mutation_p.G19615E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27039	Ig-like 126.						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)			TATCGGGGCCCCACCATCAAA	0.438000														47			15		0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580886	37580886	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:37580886C>T	uc002xjg.3	+	3	1612	c.1571C>T	c.(1570-1572)cCc>cTc	p.P524L		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	494					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ACTGGTTCTCCCGCTTCCATC	0.512000														50			11		0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111351114	111351114	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:111351114C>T	uc001try.4	-	4	360	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	MYL2_uc001trx.4_Missense_Mutation_p.E78K	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	97	EF-hand 2.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						AGAATGGTTTCCTCAGGGTCC	0.587000														56			13		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083671	42083671	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:42083671C>T	uc002ore.4	+	1	280	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.L62F	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	62						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GCCCGAGAATCTTTACAGCTA	0.502000														43			6		0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103552598	103552598	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:103552598C>T	uc001ktv.2	-	11	2616	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Missense_Mutation_p.E672K|MGEA5_uc009xws.2_Missense_Mutation_p.E658K	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	725	Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ACAATTACCTCATCCTTAGGA	0.398000														89			27		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50854670	50854670	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:50854670G>A	uc001jhz.2	+	7	1384	c.1231G>A	c.(1231-1233)Gga>Aga	p.G411R	CHAT_uc001jhv.1_Missense_Mutation_p.G293R|CHAT_uc001jhx.1_Missense_Mutation_p.G293R|CHAT_uc001jhy.1_Missense_Mutation_p.G293R|CHAT_uc001jia.2_Missense_Mutation_p.G329R|CHAT_uc010qgs.1_Missense_Mutation_p.G293R	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	411					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCTTCACGGCGGAGGCTACAG	0.637000														53			18		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38797432	38797432	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:38797432C>T	uc003ciq.3	-	9	1308	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	436					sensory perception	voltage-gated sodium channel complex		p.G436W(1)		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)	TTGTGTCAATCCCTAGTGCTG	0.498000														73			21		0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4436570	4436570	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:4436570G>A	uc002fxx.2	+	7	1335	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	Homo sapiens spinster homolog 2 (Drosophila) (SPNS2), mRNA.	374					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TGCTTTACGGGATTTCTGGGC	0.667000														41			9		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52863006	52863006	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:52863006C>T	uc001sal.4	-	8	1583	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	512	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTAGCTGCTTCCTCCACCCAG	0.617000														37			15		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78399088	78399088	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:78399088G>A	uc001dic.4	+	9	1472	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	NEXN_uc001dia.3_Missense_Mutation_p.R378Q|NEXN_uc009wcb.1_Missense_Mutation_p.R314Q|NEXN_uc001dib.4_Missense_Mutation_p.R328Q|NEXN_uc001did.1_Missense_Mutation_p.R302Q|NEXN_uc001dif.1_Missense_Mutation_p.R284Q|NEXN_uc001dig.4_Missense_Mutation_p.R33Q	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	392	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle	p.R391*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAAAACGACGAACAGAGGAG	0.328000														17			7		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10622577	10622577	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:10622577C>T	uc010rcc.1	-	14	2291	c.1905G>A	c.(1903-1905)gtG>gtA	p.V635V	MRVI1_uc010rcb.1_Silent_p.V627V|MRVI1_uc001miw.2_Silent_p.V626V|MRVI1_uc001mix.3_Silent_p.V320V|MRVI1_uc001miz.2_Silent_p.V544V|MRVI1_uc010rcd.1_Silent_p.V429V|MRVI1_uc009ygd.1_Silent_p.V320V|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	608					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ACTGCATCATCACTTCCGTTG	0.493000														204			44		0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13004358	13004358	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:13004358G>A	uc002mvq.3	+	5	473	c.396G>A	c.(394-396)cgG>cgA	p.R132R	GCDH_uc010xms.2_Silent_p.R99R|GCDH_uc002mvp.3_Silent_p.R132R|GCDH_uc010xmt.2_5'UTR|GCDH_uc010xmu.2_Silent_p.R88R	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	132					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	p.R132Q(1)|p.R132G(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						AGCTGGAGCGGGTGGACAGTG	0.592000														79			14		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401968	89401968	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:89401968C>T	uc010upo.1	+	11	6526	c.6152C>T	c.(6151-6153)tCt>tTt	p.S2051F	ACAN_uc010upp.1_Missense_Mutation_p.S2051F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2051					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAACTATTTCTCAGGAACTA	0.517000														26			7		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351212	10351212	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10351212C>T	uc002gmn.3	-	33	4999	c.4888G>A	c.(4888-4890)Gaa>Aaa	p.E1630K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1630					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGCTGGATTTCCATTTCATTA	0.453000														145			44		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692617	153692617	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:153692617C>T	uc004flm.3	+	7	1962	c.1789C>T	c.(1789-1791)Ccc>Tcc	p.P597S		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	597					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCCCTCACCCTCCCTCCA	0.697000														10			11		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140285410	140285410	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:140285410G>A	uc010lnk.3	-	4	1744	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.S408S|DENND2A_uc003vvw.3_Silent_p.S408S|DENND2A_uc003vvx.3_Silent_p.S408S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	408										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGTCAGGGATGGAAGAGGTGG	0.547000														177			27		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994645	144994645	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:144994645G>A	uc003zaf.1	-	31	9925	c.9755C>T	c.(9754-9756)tCc>tTc	p.S3252F	PLEC_uc003zab.1_Missense_Mutation_p.S3115F|PLEC_uc003zac.1_Missense_Mutation_p.S3119F|PLEC_uc003zad.2_Missense_Mutation_p.S3115F|PLEC_uc003zae.1_Missense_Mutation_p.S3083F|PLEC_uc003zag.1_Missense_Mutation_p.S3093F|PLEC_uc003zah.2_Missense_Mutation_p.S3101F|PLEC_uc003zaj.2_Missense_Mutation_p.S3142F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3252	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGGAACAGGGAGACGCTCTG	0.657000														34			12		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47489651	47489651	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:47489651C>T	uc001cqt.3	+	0	412	c.162C>T	c.(160-162)ttC>ttT	p.F54F	CYP4X1_uc001cqr.3_Intron|CYP4X1_uc001cqs.3_Intron	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	54						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCCACTGGTTCCTTGGGCACC	0.701000														28			7		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46795729	46795729	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:46795729C>T	uc003bhw.1	-	9	5297	c.5297G>A	c.(5296-5298)gGg>gAg	p.G1766E	CELSR1_uc011arc.1_Missense_Mutation_p.G87E	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1766	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CACCCGCAACCCGGACAGCAT	0.582000														57			27		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103059752	103059752	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:103059752G>A	uc002tbx.3	+	7	1373	c.889G>A	c.(889-891)Gag>Aag	p.E297K	IL18RAP_uc010fiz.3_Missense_Mutation_p.E155K	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	297	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTCTGACCTAGAGTGGGAAGT	0.393000														44			17		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896276	153896276	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:153896276C>T	uc003inf.2	+	10	1908	c.1833C>T	c.(1831-1833)gcC>gcT	p.A611A		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	611					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGGAGGAGGCCCCCAACCCAC	0.682000														185			41		0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767606	143767606	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:143767606C>T	uc001ejt.3	-	0	276	c.243G>A	c.(241-243)gaG>gaA	p.E81E		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	81	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CATCAAATTTCTCCCCATAGA	0.458000														224			5		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	176566	176566	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:176566C>T	uc001qhw.2	+	0	518	c.518C>T	c.(517-519)tCc>tTc	p.S173F		NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	173					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAATCCCCCTCCGCCCTCGGC	0.642000														50			6		0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6513321	6513321	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:6513321G>A	uc002gde.4	-	8	2064	c.1705C>T	c.(1705-1707)Cct>Tct	p.P569S	KIAA0753_uc010vtd.2_Missense_Mutation_p.P25S|KIAA0753_uc010clo.3_Missense_Mutation_p.P270S|KIAA0753_uc010vte.2_Missense_Mutation_p.P270S	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	569						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TACCATTTAGGAGACGCTGGT	0.458000														103			27		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65408298	65408298	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:65408298C>T	uc011moz.2	+	4	1022	c.885C>T	c.(883-885)ctC>ctT	p.L295L	HEPH_uc004dwn.3_Silent_p.L244L|HEPH_uc004dwo.3_5'UTR|HEPH_uc010nkr.3_Silent_p.L244L|HEPH_uc011mpa.2_Silent_p.L244L	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	241	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCTGGCATCTCAATGAGAACA	0.488000														12			6		0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30497647	30497647	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:30497647C>T	uc010gdx.1	+	5	679	c.426C>T	c.(424-426)acC>acT	p.T142T	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	142	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCCCCAAAACCTTTGAGATGC	0.542000														52			23		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70553043	70553043	+	Splice_Site	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:70553043G>A	uc003xyg.2	+	21	3113	c.2552_splice	c.e21-1	p.G851_splice	SULF1_uc010lza.1_Splice_Site_p.G851_splice|SULF1_uc003xyd.2_Splice_Site_p.G851_splice|SULF1_uc003xye.2_Splice_Site_p.G851_splice|SULF1_uc003xyf.2_Splice_Site_p.G851_splice|SULF1_uc003xyh.1_Splice_Site|SULF1_uc003xyi.1_Splice_Site|SULF1_uc003xyj.1_Splice_Site	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	851					apoptosis|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)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CCTATATCAGGAAATAAAGAT	0.328000														25			10		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171321	51171321	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:51171321C>T	uc021tif.1	-	2	3708	c.3386G>A	c.(3385-3387)gGa>gAa	p.G1129E	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.G78E	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1226					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATCCCCACTTCCTGATCTTGC	0.567000														19			8		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61460452	61460452	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:61460452G>A	uc002ljl.3	+	3	373	c.277G>A	c.(277-279)Gat>Aat	p.D93N	SERPINB7_uc002ljm.3_Missense_Mutation_p.D93N|SERPINB7_uc010xet.2_Missense_Mutation_p.D76N|SERPINB7_uc010dqg.3_Missense_Mutation_p.D93N	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	93					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATCCCACAAGGATTATGATCT	0.348000														41			5		0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69370141	69370141	+	Missense_Mutation	SNP	A	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:69370141A>C	uc004dxv.3	+	4	1339	c.840A>C	c.(838-840)ttA>ttC	p.L280F	IGBP1_uc004dxw.3_Missense_Mutation_p.L280F	NM_001551	NP_001542	P78318	IGBP1_HUMAN	Homo sapiens immunoglobulin (CD79A) binding protein 1 (IGBP1), mRNA.	280					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						ATGGAGCATTACCGGATCAGG	0.468000														15			8		0	0	1	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4412714	4412714	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:4412714G>A	uc002cwf.3	-	14	1744	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.S214L|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.S434L|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.S416L|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.S349L|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.S214L|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Missense_Mutation_p.S214L	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		CGAGGTCAGCGAACTGGGAGG	0.667000														19			7		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511190	169511190	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:169511190C>T	uc001ggg.1	-	12	3283	c.3138G>A	c.(3136-3138)agG>agA	p.R1046R		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1046	B.	Cleavage; by thrombin.			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGTGAAAGGTCCTCGGAGATA	0.403000														340			56		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14424126	14424126	+	RNA	SNP	C	G	G	rs143763279	by1000genomes	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:14424126C>G	uc002yiy.3	+	4		c.2941C>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GAAGGAACATCTGAAGGAACA	0.453000														22			3		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170146	113170146	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:113170146G>A	uc010mtz.3	-	37	8071	c.7734C>T	c.(7732-7734)atC>atT	p.I2578I	SVEP1_uc010mty.3_Silent_p.I504I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2578	Sushi 20.				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						AACTGTAGATGATTATGGCAC	0.473000														34			22		0	0	1	0	0
VOPP1	81552	broad.mit.edu	37	7	55560102	55560102	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:55560102C>T	uc003tqs.3	-	3	384	c.201G>A	c.(199-201)ctG>ctA	p.L67L	VOPP1_uc003tqq.3_Silent_p.L58L|VOPP1_uc010kzh.3_Silent_p.L64L|VOPP1_uc010kzi.3_Silent_p.L50L|VOPP1_uc011kcr.2_5'UTR	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						CGCCCATCATCAGAAGGAACC	0.622000														15			8		0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7606599	7606599	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:7606599G>A	uc010vuh.2	+	10	1597	c.1442G>A	c.(1441-1443)gGt>gAt	p.G481D	WRAP53_uc010vui.2_Missense_Mutation_p.G481D|WRAP53_uc002gip.3_Missense_Mutation_p.G481D|WRAP53_uc002gir.3_Missense_Mutation_p.G481D|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.G448D|EFNB3_uc002gis.3_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	481					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						ACTGCCTCCGGTCAGCGTGTG	0.622000														51			18		0	0	1	0	0
SH2D5	400745	broad.mit.edu	37	1	21048380	21048380	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:21048380C>T	uc009vpy.1	-	9	1679	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	SH2D5_uc001bdt.1_Missense_Mutation_p.E309K|SH2D5_uc001bdu.1_Non-coding_Transcript	NM_001103161	NP_001096630	Q6ZV89	SH2D5_HUMAN	Homo sapiens SH2 domain containing 5 (SH2D5), transcript variant 1, mRNA.	309										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTGCTCCTCGTAGGTGGGG	0.672000														19			14		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61510880	61510880	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:61510880G>A	uc002ydr.2	-	15	6740	c.6428C>T	c.(6427-6429)tCc>tTc	p.S2143F	DIDO1_uc002yds.2_Missense_Mutation_p.S2143F	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2143	Arg-rich.				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)					gtcccggctggagtccttgtc	0.726000														42			11		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51210213	51210213	+	Missense_Mutation	SNP	G	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:51210213G>C	uc001wyi.3	-	23	5413	c.5222C>G	c.(5221-5223)gCg>gGg	p.A1741G	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.A1741G|NIN_uc001wyk.3_Missense_Mutation_p.A1028G|NIN_uc001wyo.3_Missense_Mutation_p.A1741G	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1741					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTCATCGTCGCAATTCTATG	0.408000			T	PDGFRB	MPD									28			6		0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449303	35449303	+	Silent	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:35449303A>G	uc002nxh.1	-	3	1843	c.1456T>C	c.(1456-1458)Tta>Cta	p.L486L		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	486					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)			TGGCTAAATAACTTCCCACAT	0.493000														54			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595093	179595093	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179595093G>A	uc021vsy.1	-	58	14527	c.14302C>T	c.(14302-14304)Cct>Tct	p.P4768S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P1429S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5695	Ig-like 28.						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)			ACAAAGTAAGGGGGTTCTGAG	0.358000														16			3		0	0	1	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93135309	93135309	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:93135309G>A	uc001tcj.2	+	3	372	c.142G>A	c.(142-144)Gac>Aac	p.D48N		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.	48	DH.				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						CATCATCAAGGACTATGTAGA	0.418000														83			17		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927425	22927425	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:22927425C>T	uc001bfx.1	+	14	2698	c.2573C>T	c.(2572-2574)cCc>cTc	p.P858L		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	858	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACCGCCTGCCCGCACCCATG	0.692000														65			12		0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7478546	7478546	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:7478546C>T	uc002gho.2	+	14	2878	c.315C>T	c.(313-315)gtC>gtT	p.V105V	EIF4A1_uc002ghr.1_Silent_p.V105V|SNORD10_uc002ght.3_5'Flank|SNORA67_uc010cml.1_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	105	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AGGCCTTGGTCCTAGCACCCA	0.488000														63			21		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686568	54686568	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:54686568G>A	uc009znk.3	-	1	1222	c.712C>T	c.(712-714)Cct>Tct	p.P238S	NFE2_uc001sfq.3_Missense_Mutation_p.P238S|NFE2_uc001sfr.4_Missense_Mutation_p.P238S|NFE2_uc009znl.3_Missense_Mutation_p.P238S	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	238					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TTGTCCGTAGGAAAAGGAATC	0.582000														41			11		0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107237692	107237692	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:107237692C>T	uc001tlw.3	+	5	1253	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	RIC8B_uc001tlx.3_Silent_p.A376A|RIC8B_uc001tly.3_Silent_p.A336A|RIC8B_uc001tlz.3_Non-coding_Transcript|RIC8B_uc009zur.3_Non-coding_Transcript	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.	376					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	p.R375R(1)|p.R375*(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GTTCCCGAGCCCATCGAAACA	0.333000														48			9		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55118632	55118632	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:55118632C>T	uc010ooe.1	+	2	357	c.33C>T	c.(31-33)ttC>ttT	p.F11F	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Silent_p.F11F|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.F11F|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	11						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCTGGTCTTCCATGAAGACC	0.602000														62			17		0	0	1	0	0
SPRED3	399473	broad.mit.edu	37	19	38882864	38882864	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:38882864C>T	uc002oim.3	+	2	363	c.359C>T	c.(358-360)cCc>cTc	p.P120L	SPRED3_uc002oil.1_Missense_Mutation_p.P120L	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA.	120	Ser-rich.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcc	0.647000														16			4		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354858	77354858	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:77354858G>A	uc004ajl.1	-	33	5506	c.5268C>T	c.(5266-5268)tcC>tcT	p.S1756S	TRPM6_uc004ajk.1_Silent_p.S1751S|TRPM6_uc022bib.1_Silent_p.S1751S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.S707S|TRPM6_uc010mpd.1_Silent_p.S589S|TRPM6_uc010mpe.1_Silent_p.S303S|TRPM6_uc004ajj.1_Silent_p.S712S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1756	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGACCAAGAGGACATGCTTT	0.488000														34			21		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726810	238726810	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:238726810C>T	uc002vxi.4	+	2	1383	c.1251C>T	c.(1249-1251)atC>atT	p.I417I		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	416							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TACCAAAGATCGCAGTCAGAG	0.373000														34			13		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43615054	43615054	+	Missense_Mutation	SNP	G	A	A	rs142779213		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:43615054G>A	uc001jal.3	+	13	2658	c.2468G>A	c.(2467-2469)gGg>gAg	p.G823E	RET_uc001jak.1_Missense_Mutation_p.G823E|RET_uc010qez.1_Missense_Mutation_p.G569E	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	823	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGCAAAGTGGGGCCTGGCTAC	0.687000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					34			12		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119106967	119106967	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:119106967G>A	uc004bjn.3	+	13	4138	c.3757G>A	c.(3757-3759)Gat>Aat	p.D1253N	PAPPA_uc011lxq.2_Missense_Mutation_p.D628N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1253	Sushi 1.				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						GATACGGCGGGATGATGAGCT	0.567000														12			13		0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23540859	23540859	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:23540859G>A	uc002dlu.3	-	6	1348	c.1316C>T	c.(1315-1317)tCg>tTg	p.S439L	EARS2_uc002dlr.4_Non-coding_Transcript|EARS2_uc002dls.4_Non-coding_Transcript|EARS2_uc002dlt.4_Missense_Mutation_p.S439L	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative) (EARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	439					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|glutamate-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CACCTTCTCCGAGATGGCGTC	0.607000														23			8		0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228216	112228217	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:112228216_112228217GG>AA	uc021ycm.1	+	0	908_909	c.880_881GG>AA	c.(880-882)gga>AAa	p.G294K	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Non-coding_Transcript|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						TCTGTTTAACGGACGATGGTAT	0.465000														169			25		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68115619	68115619	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:68115619C>T	uc001ont.3	+	1	471	c.396C>T	c.(394-396)atC>atT	p.I132I	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	132	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCAACCGCATCGAGGTGGCCA	0.637000														136			31		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547963	113547963	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:113547963C>T	uc022blv.1	+	12	1877	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Silent_p.I492I|MUSK_uc022blu.1_Silent_p.I482I	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	581	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGAGAGACATCGGAGAGGGAG	0.428000														49			46		0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185432	56185432	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:56185432G>A	uc010rji.2	-	0	277	c.277C>T	c.(277-279)Cct>Tct	p.P93S	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GCATGGAAAGGAATGGTGTTG	0.463000														45			9		0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50474461	50474461	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:50474461C>T	uc001rvv.3	+	8	1615	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	ASIC1_uc001rvw.3_Intron|ASIC1_uc009zln.3_Intron|ASIC1_uc009zlo.3_Intron|ASIC1_uc021qxr.1_Intron	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	433					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CACTTCTGTCCCATGAGGGTC	0.572000														20			6		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43571422	43571423	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:43571422_43571423CC>TT	uc001zrf.1	-	10	1736_1737	c.1731_1732GG>AA	c.(1729-1734)acggac>acAAac	p.D578N		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	578					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T577M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	AGCTTTTCGTCCGTTAGCTTGT	0.530000														28			9		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39723964	39723964	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:39723964C>T	uc002hxe.4	-	6	1499	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	478	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				acttcctcctcGACCTCCAAG	0.512000														40			19		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35536302	35536302	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:35536302G>A	uc002hnm.3	-	40	5058	c.4867C>T	c.(4867-4869)Cca>Tca	p.P1623S	ACACA_uc002hnk.3_Missense_Mutation_p.P1545S|ACACA_uc002hnl.3_Missense_Mutation_p.P1565S|ACACA_uc002hnn.3_Missense_Mutation_p.P1623S|ACACA_uc002hno.3_Missense_Mutation_p.P1660S|ACACA_uc010cuy.3_Intron	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1623					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGGGGAGATGGAAGAAATGCT	0.438000														55			15		0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89579580	89579580	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:89579580C>T	uc003hrw.1	+	9	1250	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	HERC3_uc011cdn.1_Missense_Mutation_p.H244Y|HERC3_uc011cdo.1_5'UTR	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	362					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CTTTAAATATCATATCGTTAA	0.348000														13			5		0	0	1	0	0
OR10G3	26533	broad.mit.edu	37	14	22038238	22038238	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:22038238G>A	uc010tmb.2	-	0	638	c.638C>T	c.(637-639)tCc>tTc	p.S213F		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GAGGATCAGGGAGAAGCAACT	0.537000														110			31		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996603	31996603	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31996603C>T	uc011dpd.2	+	25	3415	c.3364C>T	c.(3364-3366)Cca>Tca	p.P1122S	C4B_uc011dpe.2_Missense_Mutation_p.P1122S	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1122					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GGACCTCTCTCCAGTGATACA	0.612000														68			23		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141526512	141526512	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:141526512C>T	uc011bnd.2	+	2	1160	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	359	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TACATGGCTCCTGAGATCCTA	0.433000														58			23		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33927862	33927862	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:33927862C>T	uc001zhi.3	+	25	3293	c.3223C>T	c.(3223-3225)Cgg>Tgg	p.R1075W	RYR3_uc010bar.3_Missense_Mutation_p.R1075W	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1075	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCGATTTTTCCGGGTAGAGCG	0.512000														26			8		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922996	43922996	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:43922996G>A	uc010wka.2	+	0	741	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	242						integral to membrane	aspartic-type endopeptidase activity										AGCCCAGAAGGAAGATAATGA	0.612000														102			16		0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224872500	224872500	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:224872500G>A	uc001hos.1	+	2	851	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	Homo sapiens cornichon homolog 3 (Drosophila) (CNIH3), mRNA.	51					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CCTGATAGAGGGAACGGTTGA	0.542000														103			58		0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9457827	9457827	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:9457827G>A	uc001mho.3	+	19	2324	c.2182G>A	c.(2182-2184)Gga>Aga	p.G728R		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	728					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GGTTCTTACAGGAGTTGCAGG	0.413000														24			4		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27301771	27301771	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:27301771C>T	uc003xfn.2	+	27	3005	c.2197C>T	c.(2197-2199)Cca>Tca	p.P733S	PTK2B_uc022ate.1_Missense_Mutation_p.P733S|PTK2B_uc003xfp.2_Missense_Mutation_p.P733S|PTK2B_uc003xfq.2_Missense_Mutation_p.P733S|PTK2B_uc003xfr.1_Missense_Mutation_p.P479S	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	733	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCTCCTGGCTCCAAAGCTGCA	0.537000														30			11		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260419	44260419	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:44260419G>A	uc010xcy.1	-	7	1393	c.825C>T	c.(823-825)taC>taT	p.Y275Y	ST8SIA5_uc002lci.1_Silent_p.Y86Y|ST8SIA5_uc002lcj.1_Silent_p.Y239Y|ST8SIA5_uc010xcz.1_Silent_p.Y208Y	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	239					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ACGCGTTCTCGTACACCTGCA	0.627000														10			5		0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911622	101911622	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:101911622C>T	uc010nod.3	+	2	3423	c.2781C>T	c.(2779-2781)tcC>tcT	p.S927S	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.S927S|GPRASP1_uc004ejj.4_Silent_p.S927S|GPRASP1_uc004eji.4_Silent_p.S927S|GPRASP1_uc022cbd.1_Silent_p.S927S	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	927	Glu-rich.|OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCTGTGTATCCAAGCCAGAGG	0.473000														45			21		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764624	184764624	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:184764624G>A	uc001gra.3	-	13	2468	c.2274C>T	c.(2272-2274)atC>atT	p.I758I	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	758	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGTCGGGGTGGATGGCAGCTG	0.557000														409			53		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237664159	237664159	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:237664159C>T	uc001hyl.1	+	20	2472	c.2352C>T	c.(2350-2352)atC>atT	p.I784I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	784	B30.2/SPRY 1.				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)			ATTTCAACATCGATGGCCTCT	0.403000														180			17		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55177365	55177365	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:55177365G>A	uc002qgp.3	+	6	1219	c.857G>A	c.(856-858)gGa>gAa	p.G286E	LILRB4_uc002qgq.3_Missense_Mutation_p.G286E|LILRB4_uc010ert.3_Missense_Mutation_p.G327E|LILRB4_uc010eru.3_Missense_Mutation_p.G315E	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	286						integral to membrane|plasma membrane	antigen binding|receptor activity	p.Q285H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGGCGTCAGGGAAAACACAGG	0.587000														48			14		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283195	5283195	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:5283195G>A	uc010zqw.2	-	1	654	c.646C>T	c.(646-648)Cag>Tag	p.Q216*	PROKR2_uc010zqx.2_Nonsense_Mutation_p.Q216*|PROKR2_uc010zqy.2_Nonsense_Mutation_p.Q216*	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	216						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TAGAGCTGCTGATCCACAGGC	0.522000										HNSCC(71;0.22)				100			52		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560226	33560226	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:33560226C>T	uc001rll.1	-	2	872	c.575G>A	c.(574-576)gGc>gAc	p.G192D	SYT10_uc009zju.1_Missense_Mutation_p.G2D	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	192						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)					AGGTTCTGTGCCCATGCTAAA	0.453000														96			15		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212937	55212937	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:55212937G>A	uc003jql.3	+	14	2476	c.2284G>A	c.(2284-2286)Gga>Aga	p.G762R	IL31RA_uc003jqm.3_Intron|IL31RA_uc003jqn.3_Intron|IL31RA_uc021xyq.1_Missense_Mutation_p.G743R|IL31RA_uc003jqo.3_Missense_Mutation_p.G620R	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	730					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GCACACCAAGGGAGAAGTCTA	0.502000														68			19		0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49981429	49981429	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:49981429C>T	uc001ruo.3	-	6	2814	c.2641G>A	c.(2641-2643)Gga>Aga	p.G881R	FAM186B_uc010smk.2_Intron	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	881						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGGTGTCCCCTCAGCTGG	0.582000														41			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438227	179438227	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179438227G>A	uc021vsy.1	-	274	65153	c.64928C>T	c.(64927-64929)tCa>tTa	p.S21643L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S15338L|TTN_uc021vta.1_Missense_Mutation_p.S15271L|TTN_uc021vtb.1_Missense_Mutation_p.S15146L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22570	Fibronectin type-III 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S15338L(1)|p.S21641L(1)|p.S15146L(1)|p.S15271L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGGCTCTGATTCCAGTGG	0.443000														81			39		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72193564	72193565	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:72193564_72193565GG>AA	uc002atl.4	-	22	3590_3591	c.3117_3118CC>TT	c.(3115-3120)ttcctc>ttTTtc	p.L1040F	MYO9A_uc010biq.3_Missense_Mutation_p.L660F|MYO9A_uc002atn.1_Missense_Mutation_p.L1021F|MYO9A_uc002atk.3_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1040	IQ 1.|Neck or regulatory domain.				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	p.F1039S(1)		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						CTCAGATGGAGGAAATGCTGCC	0.446000														35			13		0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36717919	36717919	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:36717919G>A	uc002hqd.3	-	6	1705	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	SRCIN1_uc002hqf.1_Missense_Mutation_p.P366S|SRCIN1_uc002hqe.2_Missense_Mutation_p.P348S|SRCIN1_uc002hqg.3_5'Flank|SRCIN1_uc002hqh.1_Missense_Mutation_p.P554S	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	366					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CCCGAGTAGGGGCTGTGCGGT	0.721000														10			5		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47365945	47365945	+	RNA	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:47365945G>A	uc001cqo.1	-	0		c.203C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TGTGGCCATAGAACCAGTGCG	0.483000														40			7		0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32430468	32430468	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:32430468G>A	uc003zqw.4	+	13	1777	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	ACO1_uc010mjh.1_Missense_Mutation_p.R375Q|ACO1_uc003zqx.4_Missense_Mutation_p.R541Q|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	541					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	Golgi apparatus|cytosol|endoplasmic reticulum	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTTGAAGGTCGAGTTCACCCC	0.453000														111			28		0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183349	60183350	+	Missense_Mutation	DNP	TT	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:60183349_60183350TT>AA	uc001npj.3	+	4	1473_1474	c.908_909TT>AA	c.(907-909)gtt>gAA	p.V303E	MS4A14_uc001npi.3_Missense_Mutation_p.V191E|MS4A14_uc001npn.3_Missense_Mutation_p.V41E|MS4A14_uc001npk.3_Missense_Mutation_p.V286E|MS4A14_uc001npl.3_Missense_Mutation_p.V41E|MS4A14_uc001npm.3_Missense_Mutation_p.V41E	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	303						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCACTCCAAGTTTTTCCATCCC	0.421000														55			13		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12857995	12857995	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:12857995C>T	uc003bxk.2	+	9	1613	c.1564C>T	c.(1564-1566)Ctc>Ttc	p.L522F	CAND2_uc003bxj.2_Missense_Mutation_p.L429F	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	522					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTTGCCTATCCTCCTGCCACC	0.647000														59			13		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596683	158596683	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:158596683C>T	uc001fst.1	-	40	5978	c.5779G>A	c.(5779-5781)Gat>Aat	p.D1927N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1927					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)					AAGGCATAATCGTCTTCCAAT	0.448000														237			25		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823558	114823558	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:114823558C>T	uc003ibq.1	-	1	2560	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	ARSJ_uc010imu.1_Missense_Mutation_p.E558K|ARSJ_uc010imv.1_Missense_Mutation_p.E386K	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	558						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)		ttcttggtttcctcttTATAC	0.448000														21			5		0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52771866	52771866	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:52771866G>A	uc001sah.1	-	8	1803	c.1755C>T	c.(1753-1755)tcC>tcT	p.S585S		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	585	Tail.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCGGACGCTGGAGCTGCGGC	0.687000														16			6		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76501376	76501376	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:76501376G>A	uc002fex.1	+	8	1759	c.1620G>A	c.(1618-1620)ggG>ggA	p.G540G	CNTNAP4_uc002feu.1_Silent_p.G536G|CNTNAP4_uc002fev.1_Silent_p.G401G|CNTNAP4_uc010chb.1_Silent_p.G464G|CNTNAP4_uc002few.2_Silent_p.G512G	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	537	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGTCCCTTGGGAACTTCAGTG	0.438000														29			12		0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10588010	10588010	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:10588010C>T	uc001qyh.3	-	2	195	c.188_splice	c.e2-1	p.G63_splice	KLRC2_uc010she.1_Splice_Site_p.G63_splice|KLRC2_uc001qyk.2_Splice_Site_p.G63_splice	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	63					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GGCAGTAAACCTGCAGGGAGA	0.448000														119			13		0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4190644	4190644	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:4190644C>T	uc003ghp.1	-	5	1755	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	575					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAAGACAATCTCCTCCAATC	0.493000														127			5		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44573117	44573117	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:44573117C>T	uc003tlb.3	-	7	2378	c.2322G>A	c.(2320-2322)ctG>ctA	p.L774L	NPC1L1_uc011kbw.2_Silent_p.L774L|NPC1L1_uc003tlc.3_Silent_p.L774L|NPC1L1_uc003tld.3_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	774	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGCCAGAGGTCAGGGCAAAGG	0.637000														69			31		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106743983	106743983	+	Splice_Site	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:106743983G>A	uc021ser.1	-	812		c.20394_splice	c.e812-1		LINC00226_uc021seu.1_5'Flank					Parts of antibodies, mostly variable regions.																		CTGCTCAGAGGAAAACCCCAA	0.522000														27			5		0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155093324	155093325	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:155093324_155093325CC>TT	uc003wly.3	+	2	672_673	c.461_462CC>TT	c.(460-462)ccc>cTT	p.P154L	INSIG1_uc003wlz.3_Intron|INSIG1_uc011kvu.2_Intron	NM_005542	NP_005533	O15503	INSI1_HUMAN	Homo sapiens insulin induced gene 1 (INSIG1), transcript variant 1, mRNA.	154					ER-nuclear sterol response pathway|cell proliferation	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCGGAGAACCCCACAAATTTA	0.436000														174			17		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103403	53103403	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:53103403G>A	uc003tpz.3	+	0	55	c.39G>A	c.(37-39)ggG>ggA	p.G13G		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	13										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGACCTCGGGAACTTCTGGA	0.701000														12			16		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156635	94156635	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:94156635C>T	uc001ybv.1	+	43	6993	c.6910C>T	c.(6910-6912)Cca>Tca	p.P2304S	UNC79_uc001ybs.1_Missense_Mutation_p.P2282S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2459						integral to membrane				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						GATTGGATTTCCAGAGCAATC	0.453000														70			18		0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26570684	26570684	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:26570684C>T	uc001bls.1	+	2	214	c.83C>T	c.(82-84)tCc>tTc	p.S28F	CEP85_uc001blr.3_Missense_Mutation_p.S28F|CEP85_uc010ofa.1_Intron	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	28						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AAGGGCAGTTCCCTGGGGACT	0.507000														14			5		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072513	108072513	+	Missense_Mutation	SNP	G	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:108072513G>T	uc003dwz.3	+	3	718	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Missense_Mutation_p.G102W|HHLA2_uc003dwy.4_Missense_Mutation_p.G102W	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	102	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GATTCAAAATGGGAATGCGTC	0.398000														45			9		0.00448238	0.00449066	1	1	0
PRRC2A	7916	broad.mit.edu	37	6	31602309	31602309	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31602309C>T	uc003nvb.4	+	19	5159	c.4910C>T	c.(4909-4911)cCt>cTt	p.P1637L	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P1637L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1637	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCCTGAGTCCTTTTGAGGAT	0.572000														19			7		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149688	63149688	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:63149688C>T	uc001nww.3	+	5	1280	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	338					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAACCTTCTCTGTGTGAAAT	0.388000														92			27		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161010736	161010736	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:161010736C>T	uc003qtl.3	-	24	3916	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3774	Kringle 11.				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)	GGGCTTTGCTCCGTTGGTGCT	0.448000														34			17		0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19408035	19408035	+	Missense_Mutation	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:19408035A>G	uc001reb.3	+	4	476	c.368A>G	c.(367-369)aAt>aGt	p.N123S	PLEKHA5_uc010sie.2_Missense_Mutation_p.N123S|PLEKHA5_uc001rea.3_Missense_Mutation_p.N123S|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Missense_Mutation_p.N15S|PLEKHA5_uc010sih.1_Missense_Mutation_p.N15S|PLEKHA5_uc021qvy.1_Missense_Mutation_p.N15S	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	123							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)					AGTATGATAAATGAAGCTTCT	0.353000														46			17		0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121942231	121942231	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:121942231C>T	uc003vkd.3	-	3	1322	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	FEZF1_uc003vkc.3_Silent_p.K366K|LOC154860_uc010lko.2_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	416					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGACATGCTTCTTGAGGTCAA	0.627000														183			39		0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72985153	72985153	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:72985153G>A	uc003tyh.3	-	6	1162	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	TBL2_uc011kex.2_Missense_Mutation_p.A307V|TBL2_uc010lbg.3_Missense_Mutation_p.A248V|TBL2_uc003tyi.3_Missense_Mutation_p.A178V|TBL2_uc011key.2_Missense_Mutation_p.A214V	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	343										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAAGACCTGGGCGTTGGGGGA	0.617000														151			25		0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41585813	41585813	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:41585813C>T	uc002idu.1	+	15	2499	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	DHX8_uc010wif.1_Silent_p.I718I|DHX8_uc010wig.2_Silent_p.I809I	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	809	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding	p.I809V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGTTAATTATCCTCCCAGTGT	0.473000														75			25		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207413062	207413062	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:207413062G>A	uc002vbq.3	+	7	1074	c.851G>A	c.(850-852)aGg>aAg	p.R284K	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	284					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R284R(1)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGAAAAGAAGGAAGAGAGCA	0.413000														51			14		0	0	1	0	0
V_alpha_immunoglobulin	0	broad.mit.edu	37	14	22675459	22675459	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:22675459G>A	uc001wdk.2	+	0	42	c.30G>A	c.(28-30)ggG>ggA	p.G10G	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 34, partial cds, clone: SEB 406.																		TACTCCTAGGGATATTGGGGT	0.453000														45			14		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120176	21120176	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:21120176C>T	uc001iqi.3	-	15	2017	c.1620G>A	c.(1618-1620)atG>atA	p.M540I	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	540					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGGGATATCCATGCTCACTT	0.368000														36			16		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180967	168180967	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:168180967G>A	uc010jjg.3	-	16	2151	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SLIT3_uc003mab.3_Silent_p.F577F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	577					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)			CTGCTCCATCGAAAGCTCCCT	0.532000														17			8		0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139140442	139140442	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:139140442C>T	uc021xrw.1	-	4	1004	c.724G>A	c.(724-726)Gga>Aga	p.G242R		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	242					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GCATACATTCCATAATAAAAA	0.403000														61			21		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21715879	21715879	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:21715879G>A	uc001rfb.3	-	6	1290	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	345					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCCTGGATAAGGATTCTAGGA	0.393000														80			26		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303507	151303507	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:151303507G>A	uc022cgz.1	-	0	586	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.P196S|MAGEA10_uc004ffm.2_Missense_Mutation_p.P196S|MAGEA10_uc004ffl.3_Missense_Mutation_p.P196S	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	196	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGTGGGATCCACTTCC	0.493000														18			12		0	0	1	0	0
KIAA1967	57805	broad.mit.edu	37	8	22472972	22472972	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:22472972G>A	uc003xch.3	+	11	1489	c.1240G>A	c.(1240-1242)Gga>Aga	p.G414R	KIAA1967_uc003xci.3_Missense_Mutation_p.G414R|KIAA1967_uc003xcj.1_Missense_Mutation_p.G83R	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	414					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCTGCAGCCGGGACCCCCCCG	0.582000														101			45		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554639	150554639	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:150554639G>A	uc003why.1	+	2	5299	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ABP1_uc003whz.1_Missense_Mutation_p.G361R|ABP1_uc003wia.1_Missense_Mutation_p.G361R	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	361					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GCTGTATGGAGGACACACACC	0.642000														128			46		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152826144	152826144	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:152826144C>T	uc004fht.1	+	16	2976	c.2850C>T	c.(2848-2850)ttC>ttT	p.F950F	ATP2B3_uc004fhs.1_Silent_p.F950F|ATP2B3_uc010nuf.1_5'UTR|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	950					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGCTCTTCTTCGACATCG	0.552000														17			14		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117672446	117672446	+	Silent	SNP	G	A	A	rs41413747	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:117672446G>A	uc001twn.2	-	21	3972	c.3261C>T	c.(3259-3261)atC>atT	p.I1087I	NOS1_uc021ren.1_Silent_p.I717I|NOS1_uc021reo.1_Silent_p.I717I|NOS1_uc001twm.2_Silent_p.I1053I	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1053	FAD-binding FR-type.				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)	CCAGCCGCTCGATCAGGGCAT	0.627000														35			14		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74450975	74450975	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:74450975C>T	uc003hhd.1	-	5	708	c.585G>A	c.(583-585)agG>agA	p.R195R	RASSF6_uc003hhc.1_Silent_p.R163R|RASSF6_uc010iik.1_Silent_p.R163R|RASSF6_uc010iil.1_Silent_p.R151R	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	195					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAGGCTTCATCCTTTTTCTCA	0.413000														79			20		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108220569	108220569	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:108220569C>T	uc003dxa.1	-	3	446	c.389G>A	c.(388-390)tGg>tAg	p.W130*		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	130	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						ATAGATCATCCACTGGCCATA	0.458000														36			15		0	0	1	0	0
GGA2	23062	broad.mit.edu	37	16	23504719	23504719	+	Missense_Mutation	SNP	G	A	A	rs143003037		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:23504719G>A	uc002dlq.3	-	3	396	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	105	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TTCAGGAAACGAAATTTGGCC	0.552000														61			18		0	0	1	0	0
CTSL1	1514	broad.mit.edu	37	9	90343221	90343221	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:90343221G>A	uc004api.3	+	3	511	c.306G>A	c.(304-306)aaG>aaA	p.K102K	CTSL1_uc004aph.3_Silent_p.K102K|CTSL1_uc010mqh.3_Intron|CTSL1_uc004apl.3_Silent_p.K102K|CTSL1_uc004apk.3_Silent_p.K102K	NM_145918	NP_666023	P07711	CATL1_HUMAN	Homo sapiens cathepsin L1 (CTSL1), transcript variant 2, mRNA.	102					macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)	19					Glucagon recombinant(DB00040)	AGCCCAGGAAGGGGAAAGTGT	0.453000														60			13		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41410561	41410561	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:41410561G>A	uc001rmm.1	+	18	2375	c.2262G>A	c.(2260-2262)tgG>tgA	p.W754*	CNTN1_uc001rmn.1_Nonsense_Mutation_p.W743*	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	754	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGAAGAATGGAAAAAAGTCA	0.368000														52			10		0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159519586	159519586	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:159519586C>T	uc002tzv.3	+	13	2649	c.2389C>T	c.(2389-2391)Ccg>Tcg	p.P797S	PKP4_uc002tzt.1_Missense_Mutation_p.P649S|PKP4_uc002tzu.3_Missense_Mutation_p.P797S|PKP4_uc002tzw.3_Missense_Mutation_p.P797S|PKP4_uc002tzx.3_Missense_Mutation_p.P454S|PKP4_uc002tzy.1_Missense_Mutation_p.P455S|PKP4_uc002uaa.3_Missense_Mutation_p.P649S|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_5'UTR	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	797					cell adhesion	desmosome	protein binding	p.P797L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AAAGAGGACTCCGCAAGAAGA	0.378000										HNSCC(62;0.18)				24			10		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39890717	39890717	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:39890717C>T	uc002hxm.1	-	0	182	c.170G>A	c.(169-171)gGa>gAa	p.G57E	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.G57E|HAP1_uc002hxo.1_Missense_Mutation_p.G57E|HAP1_uc002hxp.1_Missense_Mutation_p.G57E	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	57					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GAACTGGGATCCAGAGGTGGC	0.701000														40			9		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72057460	72057460	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:72057460C>T	uc002atb.1	+	14	2770	c.2691C>T	c.(2689-2691)ttC>ttT	p.F897F	THSD4_uc002ate.2_Silent_p.F537F|THSD4_uc002atg.1_Silent_p.F100F	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	897	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGTTCTTTCCTGGAGAAAC	0.522000														51			14		0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56847477	56847477	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:56847477G>A	uc001slh.3	-	1	461	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	141					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						TGCAGAGCACGAACTGGAGCG	0.607000														36			13		0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874525	88874525	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:88874525G>A	uc002stc.4	-	12	2778	c.2476C>T	c.(2476-2478)Cga>Tga	p.R826*		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	826	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATATGCAATCGATTAGTTTTC	0.398000														92			43		0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219561883	219561883	+	Missense_Mutation	SNP	C	T	T	rs141444996		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:219561883C>T	uc002viu.3	+	22	2987	c.2708C>T	c.(2707-2709)tCg>tTg	p.S903L	STK36_uc002viv.3_Missense_Mutation_p.S882L|STK36_uc002vix.3_5'UTR	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	903					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGGGAGCTTTCGCTATCCAGT	0.527000														103			32		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849624	73849624	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:73849624C>T	uc003xzb.3	+	2	2622	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	678					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.L678L(2)		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)			CTGTGAACCTCGATGCCAGTG	0.542000														56			36		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124767006	124767006	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:124767006C>T	uc001qbg.3	-	1	362	c.222G>A	c.(220-222)atG>atA	p.M74I	ROBO4_uc010sas.2_Intron|ROBO4_uc001qbh.2_Intron|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	74	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTGGGGGCACCATGCTCAGGG	0.677000														15			11		0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17095492	17095492	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:17095492C>T	uc004cxv.1	+	12	1649	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	REPS2_uc004cxw.1_Missense_Mutation_p.S492F|REPS2_uc011miw.1_Intron	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	493	Pro-rich.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					AGAGCCTCCTCCTTGGATCTG	0.572000														34			23		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938553	38938553	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:38938553G>A	uc021wvy.1	-	13	2385	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	729					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)	ACTCTTTTGGGAATTGAAGCT	0.498000														41			4		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480968	20480968	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:20480968C>T	uc010bwe.3	+	4	762	c.523C>T	c.(523-525)Cct>Tct	p.P175S	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.P96S|ACSM2A_uc002dhf.4_Missense_Mutation_p.P175S|ACSM2A_uc002dhg.4_Missense_Mutation_p.P175S|ACSM2A_uc010vay.2_Missense_Mutation_p.P96S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	175					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATCTGAATGTCCTTCTCTGAG	0.453000														143			44		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418443	105418443	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:105418443C>T	uc010axc.1	-	6	3465	c.3345G>A	c.(3343-3345)gcG>gcA	p.A1115A	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A1015A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1115						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTGACTTCCGCCTTGGGGC	0.652000														245			74		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33622330	33622330	+	Silent	SNP	G	A	A	rs111447342	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:33622330G>A	uc021vft.1	+	32	4988	c.4965G>A	c.(4963-4965)acG>acA	p.T1655T	LTBP1_uc002rou.3_Silent_p.T1329T|LTBP1_uc002rov.3_Silent_p.T1276T|LTBP1_uc010ymz.2_Silent_p.T1287T|LTBP1_uc010yna.2_Silent_p.T1234T|LTBP1_uc010ynb.2_Silent_p.T553T	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1655	EGF-like 17.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACTTGGATACGGCCAAGATGA	0.458000														60			14		0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2748963	2748963	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:2748963G>A	uc003jda.3	-	2	1101	c.859C>T	c.(859-861)Ccg>Tcg	p.P287S	IRX2_uc003jdb.3_Missense_Mutation_p.P287S	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	287						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CCGGTAAGCGGCGACGAGGTC	0.751000														16			9		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3441294	3441294	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:3441294C>T	uc003ggw.3	+	17	5131	c.4227C>T	c.(4225-4227)ggC>ggT	p.G1409G	RGS12_uc003ggz.3_Silent_p.G761G|RGS12_uc003gha.3_Silent_p.G751G|RGS12_uc010icv.3_Silent_p.G608G|HGFAC_uc003ghc.3_5'Flank|HGFAC_uc010icw.3_5'Flank	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1409						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACAGGCTGGCCCTGGGAGGT	0.662000														41			13		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36182056	36182056	+	Missense_Mutation	SNP	C	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:36182056C>G	uc003olv.4	+	7	3106	c.2882C>G	c.(2881-2883)gCc>gGc	p.A961G	BRPF3_uc010jwb.3_Intron|BRPF3_uc011dtj.2_Intron|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	961					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGCTCTCCTGCCTCTCCAGCC	0.607000														81			14		0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151280271	151280271	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:151280271G>A	uc001exr.3	-	4	1636	c.997C>T	c.(997-999)Cga>Tga	p.R333*	PI4KB_uc001exs.3_Nonsense_Mutation_p.R306*|PI4KB_uc001exu.3_Nonsense_Mutation_p.R306*|PI4KB_uc010pcw.2_5'UTR|PI4KB_uc001ext.3_Nonsense_Mutation_p.R321*	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	321					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	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)			GGAGCCAGTCGAACAGGCTAC	0.547000														100			9		0	0	1	0	0
LCE2C	353140	broad.mit.edu	37	1	152648755	152648755	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152648755C>T	uc021ozc.1	+	0	264	c.264C>T	c.(262-264)agC>agT	p.S88S	LCE2C_uc001fah.3_Silent_p.S88S	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	Homo sapiens late cornified envelope 2C (LCE2C), mRNA.	88	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCACCAGAGCCCCGACTGCT	0.672000														158			34		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145633213	145633213	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:145633213G>A	uc003ijs.2	+	7	2093	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	471						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	p.G471G(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TAATAAAGGGGAAAGATTATG	0.313000														64			23		0	0	1	0	0
WFDC13	164237	broad.mit.edu	37	20	44333151	44333151	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:44333151G>A	uc002xpd.3	+	1	265	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	WFDC10B_uc002xpb.3_5'UTR|WFDC10B_uc002xpc.3_Missense_Mutation_p.P42S	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN	Homo sapiens WAP four-disulfide core domain 13 (WFDC13), mRNA.	53						extracellular region	peptidase inhibitor activity	p.E53K(2)		skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				TACAATGCAGGAAGATTGCGA	0.438000														77			43		0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124971981	124971981	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:124971981C>T	uc004blx.4	-	8	1142	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	LHX6_uc022bmw.1_Missense_Mutation_p.G141E|LHX6_uc010mvw.3_Missense_Mutation_p.G328E|LHX6_uc022bmx.1_Intron|LHX6_uc004bly.4_Intron	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	328					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						gtgcacctgcccgcactgtac	0.637000														38			14		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476254	41476254	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:41476254C>T	uc010ucv.2	-	11	1866	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	EXD1_uc001znj.3_Missense_Mutation_p.E272K|EXD1_uc001znk.3_Missense_Mutation_p.E474K	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	474					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ACTCTGGTTTCCTGAGGAAAG	0.418000														74			18		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49621269	49621269	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:49621269G>A	uc002xwa.4	-	2	1144	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	283						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCGCAGGAGGAACTCCAGGG	0.642000														5			6		0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77335072	77335072	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:77335072C>T	uc003kfj.3	-	22	2729	c.2604G>A	c.(2602-2604)acG>acA	p.T868T		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	868					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CGTGAGTTTTCGTTGGTACAA	0.363000									Hermansky-Pudlak syndrome					56			19		0	0	1	0	0
CD7	924	broad.mit.edu	37	17	80274706	80274706	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:80274706G>A	uc002kel.1	-	1	343	c.234C>T	c.(232-234)ccC>ccT	p.P78P	CD7_uc010din.3_Silent_p.P78P|CD7_uc010wvk.1_Silent_p.P78P	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	78	Ig-like.				T cell activation|immune response|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TGTCCGTAGTGGGCACCACCC	0.632000														117			24		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255216	70255216	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:70255216C>T	uc003tvw.4	+	18	3749	c.3014C>T	c.(3013-3015)cCg>cTg	p.P1005L	AUTS2_uc003tvx.4_Missense_Mutation_p.P981L|AUTS2_uc011keg.2_Missense_Mutation_p.P457L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1005										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCCTCGGAGCCGCCGCCTCCC	0.672000														38			10		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880781	142880781	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142880781G>A	uc011ksw.2	+	0	270	c.270G>A	c.(268-270)atG>atA	p.M90I		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	90					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AAAGCCTCATGATGTTAGAAA	0.363000														171			37		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857846	9857846	+	Silent	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:9857846T>C	uc010uym.2	-	13	3865	c.3555A>G	c.(3553-3555)aaA>aaG	p.K1185K	GRIN2A_uc002czo.4_Silent_p.K1185K|GRIN2A_uc010uyn.2_Silent_p.K1028K|GRIN2A_uc002czr.4_Silent_p.K1185K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1185					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)	TGGAGTAGAGTTTATACTGGT	0.537000														326			77		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579028	82579028	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:82579028G>A	uc003uhx.2	-	5	11165	c.10876C>T	c.(10876-10878)Ccc>Tcc	p.P3626S	PCLO_uc003uhv.2_Missense_Mutation_p.P3626S|PCLO_uc010lec.3_Missense_Mutation_p.P591S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3557					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P3626P(1)		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						GGTGAGATGGGTGAGTAAAGG	0.483000														110			58		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142563804	142563804	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142563804C>T	uc011kst.2	+	8	1979	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	EPHB6_uc011ksu.2_Nonsense_Mutation_p.R398*|EPHB6_uc003wbs.3_Nonsense_Mutation_p.R106*|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Nonsense_Mutation_p.R106*|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	398	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.G397C(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCTGGGGGGTCGAGGGGACCT	0.652000														20			7		0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100717410	100717410	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:100717410C>T	uc001thn.3	+	10	1553	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	SCYL2_uc009ztw.1_Silent_p.S328S|SCYL2_uc001thm.1_Silent_p.S501S	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	501					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AAACATCTTCCCTTGCGGTAA	0.303000														38			10		0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30805971	30805971	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:30805971G>A	uc001rjd.3	-	17	2352	c.2004C>T	c.(2002-2004)tcC>tcT	p.S668S	IPO8_uc010sjt.2_Silent_p.S463S|IPO8_uc001rje.1_Silent_p.S157S	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	668					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACATTTGAGGGGAAATACTGT	0.353000														52			11		0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	990989	990989	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:990989C>T	uc002lqm.1	+	4	761	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	Homo sapiens WD repeat domain 18 (WDR18), mRNA.	245										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGACCTCTTCACCTGGGTGA	0.652000														49			10		0	0	1	0	0
MMACHC	25974	broad.mit.edu	37	1	45973169	45973169	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:45973169C>T	uc009vxv.3	+	1	372	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L		NM_015506	NP_056321	Q9Y4U1	MMAC_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (MMACHC), mRNA.	75							cobalamin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTCCGAATGCTGACTGACCC	0.607000														35			3		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452578	138452578	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:138452578C>T	uc003ihe.4	-	0	1052	c.665G>A	c.(664-666)gGa>gAa	p.G222E	PCDH18_uc003ihf.4_Missense_Mutation_p.G215E|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.G2E|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	222	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CTGAGGTACTCCCATGTCTGA	0.458000														53			18		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10310211	10310211	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10310211G>A	uc002gmm.2	-	17	2146	c.2051C>T	c.(2050-2052)cCt>cTt	p.P684L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	684	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.T683I(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTCTTACCAGGAGTTTTGGT	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					41			7		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179743	124179743	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:124179743C>T	uc010sag.2	-	0	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GACTCATTTTCCTACTAAGAC	0.368000														20			11		0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35260324	35260324	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:35260324C>T	uc009vul.3	+	1	762	c.738C>T	c.(736-738)ctC>ctT	p.L246L	GJA4_uc001bya.3_Silent_p.L170L|GJA4_uc009vum.1_Silent_p.L170L|GJA4_uc021olb.1_Silent_p.L170L	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	170					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CAGGCTTCCTCTATGGCCAGT	0.627000														28			11		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475230	5475230	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:5475230C>T	uc010qzf.2	+	0	593	c.512C>T	c.(511-513)tCc>tTc	p.S171F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S171Y(2)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTGCAGATCCAATGTTCTT	0.463000														72			15		0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97247344	97247344	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:97247344C>T	uc010kcl.3	-	2	742	c.264G>A	c.(262-264)atG>atA	p.M88I	GPR63_uc003pou.3_Missense_Mutation_p.M88I|GPR63_uc021zcy.1_Missense_Mutation_p.M88I	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	88						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GAATGAATATCATTATAGCAG	0.433000														50			22		0	0	1	0	0
IL28RA	163702	broad.mit.edu	37	1	24483662	24483662	+	Silent	SNP	G	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:24483662G>C	uc001bis.3	-	6	1548	c.1521C>G	c.(1519-1521)acC>acG	p.T507T	IL28RA_uc001bir.3_Silent_p.T478T|IL28RA_uc001bit.3_3'UTR|IL28RA_uc001biu.3_Silent_p.T423T	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	507					cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		CCCTGTCCTCGGTCCTCTGGG	0.612000														58			12		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361202	70361202	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:70361202G>A	uc003hek.4	-	0	425	c.378C>T	c.(376-378)ttC>ttT	p.F126F	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Silent_p.F126F	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	126					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TATCCTTACAGAACTTTCTAA	0.353000														13			4		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10433055	10433055	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10433055C>T	uc010coi.3	-	23	3071	c.2943G>A	c.(2941-2943)gtG>gtA	p.V981V	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.V981V|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.	981					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						TGAGGTTTTTCACCTACAAAG	0.458000														178			61		0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210471	100210471	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:100210471G>A	uc003uvq.3	+	1	259	c.57G>A	c.(55-57)cgG>cgA	p.R19R	MOSPD3_uc003uvr.3_Silent_p.R19R|MOSPD3_uc003uvs.3_Silent_p.R19R|MOSPD3_uc003uvt.3_Silent_p.R19R	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	19						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					cccctgggcgggggtcccggg	0.736000														31			30		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371488	240371488	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:240371488G>A	uc010pye.2	+	5	3613	c.3388G>A	c.(3388-3390)Gga>Aga	p.G1130R	FMN2_uc010pyd.2_Missense_Mutation_p.G1126R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1126	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGGCAT	0.721000														43			5		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101891702	101891702	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:101891702C>T	uc003uys.4	+	23	4058	c.3931C>T	c.(3931-3933)Cgc>Tgc	p.R1311C	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.R1300C	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1300					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTCTCGGATCCGCAGAGAACT	0.687000														12			9		0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91195977	91195977	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:91195977G>A	uc001kgm.3	-	6	1429	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	SLC16A12_uc001kgl.3_Silent_p.L18L	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	346						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGAAAGGCACGAGCAGAGGGA	0.493000														45			11		0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99770919	99770919	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:99770919C>T	uc001kou.2	-	1	556	c.200G>A	c.(199-201)gGg>gAg	p.G67E	CRTAC1_uc001kov.3_Missense_Mutation_p.G67E	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	67						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCAAAGTCCCCATCATGGTC	0.483000														88			24		0	0	1	0	0
MYL12A	10627	broad.mit.edu	37	18	3253895	3253895	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:3253895C>T	uc002kls.3	+	2	256	c.208C>T	c.(208-210)Cca>Tca	p.P70S	MYL12A_uc002klr.3_Missense_Mutation_p.P64S	NM_006471	NP_006462	P19105	ML12A_HUMAN	Homo sapiens myosin, light chain 12A, regulatory, non-sarcomeric (MYL12A), mRNA.	64						myosin complex	calcium ion binding|protein binding			NS(1)|kidney(2)|large_intestine(2)	5						AGGGAAGAATCCAACTGATGA	0.343000														37			6		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973462	29973462	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:29973462G>A	uc004dby.2	+	10	2124	c.1616G>A	c.(1615-1617)tGg>tAg	p.W539*		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	539	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GTCATTAAATGGCATGGACCA	0.428000														13			6		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353778	105353778	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:105353778C>T	uc001yps.3	+	10	3298	c.2992C>T	c.(2992-2994)Cct>Tct	p.P998S	KIAA0284_uc010axb.3_Missense_Mutation_p.P998S|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1068						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCACGAAACCCCTGAGGCCAC	0.692000														42			6		0	0	1	0	0
AK092965	0	broad.mit.edu	37	17	40468761	40468761	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:40468761G>A	uc010cyf.1	-	0	109	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S	STAT3_uc002hzk.1_Intron|STAT3_uc002hzl.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron|STAT3_uc021txs.1_5'Flank					Homo sapiens cDNA FLJ35646 fis, clone SPLEN2012743.																		ACACAAAGGGGACCAACTTCC	0.468000														26			10		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889195	147889195	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:147889195G>A	uc021yfj.1	-	4	947	c.900C>T	c.(898-900)ctC>ctT	p.L300L	HTR4_uc021yfg.1_Silent_p.L300L|HTR4_uc021yfh.1_Silent_p.L300L|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Silent_p.L300L|HTR4_uc011dby.1_Silent_p.L300L|HTR4_uc003lpn.3_Silent_p.L300L|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Silent_p.L300L	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	300					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TGATATAGCCGAGCCAGAGGA	0.493000														61			6		0	0	1	0	0
C15orf38-AP3S2	100526783	broad.mit.edu	37	15	90378804	90378804	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:90378804C>T	uc002bos.4	-	9	1283	c.1128G>A	c.(1126-1128)cgG>cgA	p.R376R	C15orf38-AP3S2_uc010bns.3_Non-coding_Transcript|C15orf38-AP3S2_uc002bor.4_Non-coding_Transcript|C15orf38-AP3S2_uc002boq.4_Silent_p.R175R	NM_001199058	NP_001185987	E2QRD5	E2QRD5_HUMAN	Homo sapiens C15orf38-AP3S2 readthrough (C15orf38-AP3S2), mRNA.	376					intracellular protein transport|vesicle-mediated transport	membrane coat	protein transporter activity										TGTTGATGTTCCGAGGAATCT	0.483000														105			35		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42479896	42479896	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:42479896C>T	uc002osh.3	-	15	2302	c.2148G>A	c.(2146-2148)aaG>aaA	p.K716K	ATP1A3_uc010xwf.2_Silent_p.K727K|ATP1A3_uc010xwg.2_Silent_p.K686K|ATP1A3_uc002osg.3_Silent_p.K716K|ATP1A3_uc010xwh.2_Silent_p.K729K			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	716					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGTCGGCCTTCTTCAGAGCGG	0.602000														121			28		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181686297	181686297	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:181686297G>A	uc009wxt.3	+	10	1579	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	CACNA1E_uc001gow.3_Missense_Mutation_p.E462K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E462K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	462					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGGCACAAGGAAAGGCTTCT	0.512000														156			29		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141889014	141889014	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:141889014G>A	uc003iio.1	-	1	1152	c.498C>T	c.(496-498)atC>atT	p.I166I	RNF150_uc010iok.1_Silent_p.I166I|RNF150_uc003iip.1_Silent_p.I166I	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	166	PA.					integral to membrane	zinc ion binding	p.I75I(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TTATGGCCACGATGTCTTCTA	0.488000														70			12		0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74695298	74695298	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:74695298G>A	uc002fda.3	-	1	148	c.50C>T	c.(49-51)gCc>gTc	p.A17V	RFWD3_uc010cgq.3_Missense_Mutation_p.A17V	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA.	17					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGTTGTTCGGCATGATTTAA	0.478000														229			5		0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69652651	69652651	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:69652651C>T	uc001sut.4	+	5	1086	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	CPSF6_uc001suu.4_Missense_Mutation_p.R363C|CPSF6_uc010stk.2_5'UTR	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	326	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CTTTCCACCTCGTCCACCCGG	0.672000														98			22		0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36993331	36993331	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:36993331G>A	uc002xic.1	+	7	881	c.846G>A	c.(844-846)tcG>tcA	p.S282S		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	282					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTGCCATCTCGGATTATGTCT	0.473000														128			73		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84800702	84800702	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:84800702C>T	uc010fgb.3	+	11	2052	c.1915C>T	c.(1915-1917)Cag>Tag	p.Q639*	DNAH6_uc002soo.3_Nonsense_Mutation_p.Q218*|DNAH6_uc002sop.3_Nonsense_Mutation_p.Q218*	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	639	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q639L(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCTTAAACTTCAGGAACCTGG	0.378000														59			13		0	0	1	0	0
SMCR7	125170	broad.mit.edu	37	17	18167901	18167901	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:18167901C>T	uc010vxq.2	+	3	1247	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Silent_p.A396A	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	396						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CGGAGGAGGCCTTGGGTGAGC	0.662000														75			16		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50589250	50589250	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:50589250G>A	uc003bjj.3	+	20	2897	c.2814G>A	c.(2812-2814)ttG>ttA	p.L938L	MOV10L1_uc003bjk.4_Silent_p.L938L|MOV10L1_uc011arp.2_Silent_p.L918L|MOV10L1_uc003bjl.3_Silent_p.L65L|MOV10L1_uc003bjm.1_Intron	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	938					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGTCCTTTTTGGAACGGCTGA	0.582000														45			7		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62076610	62076610	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:62076610C>T	uc002yey.1	-	2	672	c.495G>A	c.(493-495)cgG>cgA	p.R165R	KCNQ2_uc002yez.1_Silent_p.R165R|KCNQ2_uc002yfa.1_Silent_p.R165R|KCNQ2_uc002yfb.1_Silent_p.R165R|KCNQ2_uc011aax.1_Silent_p.R165R|KCNQ2_uc002yfc.1_Silent_p.R165R	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	165					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AGAACGGTTTCCGGGCAAACT	0.647000														83			13		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680369	33680369	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:33680369C>T	uc002hjg.4	-	3	2155	c.1908G>A	c.(1906-1908)ctG>ctA	p.L636L	SLFN11_uc010ctr.3_Silent_p.L636L|SLFN11_uc010ctp.3_Silent_p.L636L|SLFN11_uc010ctq.3_Silent_p.L636L|SLFN11_uc002hjh.4_Silent_p.L636L	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	636						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)		TAAAGTTCCTCAGAGGCTGGT	0.403000														83			18		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11732252	11732253	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:11732252_11732253TC>CT	uc003jfa.1	-	1	314_315	c.169_170GA>AG	c.(169-171)gaa>AGa	p.E57R	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	57					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						TTCTACCTGTTCTTTGACTGAG	0.421000														106			20		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122405975	122405975	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:122405975C>T	uc009zxk.3	+	16	2830	c.2671C>T	c.(2671-2673)Ccg>Tcg	p.P891S	WDR66_uc021rfh.1_Missense_Mutation_p.P891S	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	891							calcium ion binding	p.P891Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGTTTGCCACCCGAACGGGGT	0.522000														65			23		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680314	95680314	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:95680314G>A	uc003ygq.4	+	9	1252	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	ESRP1_uc003ygr.4_Missense_Mutation_p.E357K|ESRP1_uc003ygs.4_Missense_Mutation_p.E357K|ESRP1_uc003ygt.4_Missense_Mutation_p.E357K|ESRP1_uc003ygu.4_Missense_Mutation_p.E357K|ESRP1_uc003ygv.3_Missense_Mutation_p.E197K|ESRP1_uc003ygw.3_Missense_Mutation_p.E197K	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	357	RRM 2.				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						TGGGGGAAAGGAAGGCATCCT	0.527000														81			20		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957332	50957332	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:50957332G>A	uc002psf.2	+	16	1856	c.1805G>A	c.(1804-1806)aGc>aAc	p.S602N		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	602	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GACTGCAGCAGCTTTGTGATT	0.612000														19			6		0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74631154	74631154	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:74631154G>A	uc001jtc.3	+	5	698	c.677G>A	c.(676-678)aGa>aAa	p.R226K	MCU_uc009xqp.1_Non-coding_Transcript|MCU_uc009xqq.1_Non-coding_Transcript|MCU_uc010qjy.1_Non-coding_Transcript|MCU_uc009xqr.3_Missense_Mutation_p.R205K|MCU_uc001jtd.3_Missense_Mutation_p.R177K	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA.	226					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GAGATTAGCAGAAAAGCTGAG	0.433000														192			42		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					50			63		0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35434798	35434798	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:35434798C>T	uc010edq.1	+	4	1309	c.931C>T	c.(931-933)Cat>Tat	p.H311Y	ZNF30_uc002nxf.2_Missense_Mutation_p.H229Y|ZNF30_uc010edp.1_Missense_Mutation_p.H310Y|ZNF30_uc010edr.1_Missense_Mutation_p.H311Y	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	310					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(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TCAGAGAATTCATACTGGCGA	0.443000														54			20		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48697704	48697704	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:48697704C>T	uc003xqi.3	-	77	11131	c.11074G>A	c.(11074-11076)Gag>Aag	p.E3692K	PRKDC_uc003xqj.3_Missense_Mutation_p.E3692K	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3693					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTCAGGAACTCCACTTTGAAG	0.453000								Non-homologous end-joining						45			12		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219524	155219524	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:155219524G>A	uc003inw.2	-	17	4577	c.4577C>T	c.(4576-4578)aCc>aTc	p.T1526I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1526	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGGATCAATGGTGAATGCACC	0.488000														104			45		0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35079160	35079160	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:35079160G>A	uc003zwb.1	-	1	655	c.163C>T	c.(163-165)Cat>Tat	p.H55Y	FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.H55Y	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	55					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGCAGACTATGGAGGAGCCCT	0.567000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks						13			6		0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951787	73951787	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:73951787G>A	uc003pgo.3	-	3	1006	c.505C>T	c.(505-507)Cat>Tat	p.H169Y	KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.4_Missense_Mutation_p.H96Y	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	169						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						CCTCGAGCATGATGATAGGAG	0.512000														16			9		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872408	36872408	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:36872408G>A	uc003cgj.3	-	20	8782	c.8534C>T	c.(8533-8535)tCg>tTg	p.S2845L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2845					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACCATATCCGAAACCCTCTT	0.597000														65			24		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14363864	14363864	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:14363864G>A	uc003jff.3	+	13	2421	c.2415G>A	c.(2413-2415)tgG>tgA	p.W805*	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Nonsense_Mutation_p.W756*|TRIO_uc003jfh.1_Nonsense_Mutation_p.W454*	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	805					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|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCGAGTCTTGGAATGATGAGC	0.438000														55			16		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105438935	105438935	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:105438935G>A	uc003dwc.3	-	9	1685	c.1363C>T	c.(1363-1365)Cgt>Tgt	p.R455C	CBLB_uc011bhi.2_Missense_Mutation_p.R477C|CBLB_uc003dwd.2_Missense_Mutation_p.R455C|CBLB_uc003dwe.2_Missense_Mutation_p.R455C|CBLB_uc011bhj.1_Non-coding_Transcript	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	455					NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GACTCCTCACGATCATCATCG	0.463000			Mis S		AML									29			9		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105836092	105836092	+	Silent	SNP	T	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:105836092T>G	uc001kxr.3	-	4	467	c.298A>C	c.(298-300)Agg>Cgg	p.R100R	COL17A1_uc010qqv.1_Silent_p.R100R|COL17A1_uc009xxp.1_Silent_p.R100R	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	100	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.R100M(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAGTTTTCCTTTCAAAGGTT	0.517000														142			24		0	0	1	0	0
VPS28	51160	broad.mit.edu	37	8	145649348	145649348	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:145649348G>A	uc003zct.1	-	8	714	c.624C>T	c.(622-624)ccC>ccT	p.P208P	VPS28_uc003zcs.1_Intron	NM_183057	NP_898880	Q9UK41	VPS28_HUMAN	Homo sapiens vacuolar protein sorting 28 homolog (S. cerevisiae) (VPS28), transcript variant 2, mRNA.	0	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGGGCCTCAGGGGCACTGCGG	0.706000														99			45		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409902	19409902	+	RNA	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:19409902G>A	uc010tcj.1	-	0		c.36208C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTGTCTTACAGAACTTATCTT	0.348000														38			14		0	0	1	0	0
LOC646813	646813	broad.mit.edu	37	11	50379382	50379382	+	RNA	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:50379382G>A	uc001nhe.2	+	5		c.865G>A			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		TCAATTGAACGAAAAGGAAAC	0.358000														30			8		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62192525	62192525	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:62192525C>T	uc002yfm.2	-	14	7948	c.7056G>A	c.(7054-7056)ctG>ctA	p.L2352L	PRIC285_uc002yfl.1_Silent_p.L1783L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2352					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCCTCACGTCCAGGATTTTGA	0.602000														86			18		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58607126	58607126	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:58607126C>T	uc001nnd.4	-	2	92	c.-39_splice	c.e2-1		GLYATL2_uc009ymq.3_Splice_Site	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.							mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AGAAGATGATCTAAGGAAATA	0.383000														23			4		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30922585	30922585	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:30922585C>T	uc003tbt.3	+	16	2279	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	FAM188B_uc010kwe.3_Silent_p.P705P|FAM188B_uc011kac.1_Silent_p.P80P|FAM188B_uc003tbu.3_Silent_p.P254P	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	734										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGTCCCACCCCTCGAGCTCT	0.582000														116			59		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927718	55927718	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:55927718G>A	uc010rja.2	-	0	76	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CCAAAAAGGGGAATCTGCAGC	0.443000														75			20		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507363	51507363	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:51507363C>T	uc001zyz.4	-	8	1176	c.925G>A	c.(925-927)Gac>Aac	p.D309N	CYP19A1_uc001zza.4_Missense_Mutation_p.D309N|CYP19A1_uc001zzb.2_Missense_Mutation_p.D309N	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	309					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GACATGGTGTCAGGAGCTGCG	0.398000														55			16		0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61659093	61659093	+	Missense_Mutation	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:61659093A>G	uc003jsy.4	+	12	1519	c.1208A>G	c.(1207-1209)gAg>gGg	p.E403G	KIF2A_uc003jsz.4_Missense_Mutation_p.E403G|KIF2A_uc003jsx.4_Missense_Mutation_p.E383G|KIF2A_uc010iwp.3_Missense_Mutation_p.E384G|KIF2A_uc010iwq.3_Missense_Mutation_p.E206G	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	403	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CAGGAACGGGAGGTCAAATGT	0.368000														29			5		0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239366	21239366	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:21239366C>T	uc010mis.3	-	0	613	c.569G>A	c.(568-570)tGa>tAa	p.*190*	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	0					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AACCAGTTTTCAATCCTTCCT	0.388000														107			38		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077647	19077647	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:19077647G>A	uc001mph.3	-	1	391	c.303C>T	c.(301-303)ttC>ttT	p.F101F	MRGPRX2_uc021qer.1_Silent_p.F101F	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	101					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						AGAAGCTAGGGAAATTGATGG	0.557000														75			22		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169320	113169320	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:113169320C>T	uc010mtz.3	-	37	8897	c.8560G>A	c.(8560-8562)Gag>Aag	p.E2854K	SVEP1_uc010mty.3_Missense_Mutation_p.E780K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2854	Sushi 24.				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						TATTCAATCTCTTTTTGGAAT	0.522000														47			30		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25019811	25019811	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:25019811C>T	uc003aan.1	+	10	1435	c.948C>T	c.(946-948)atC>atT	p.I316I	GGT1_uc003aas.1_Silent_p.I316I|GGT1_uc003aat.1_Silent_p.I316I|GGT1_uc003aau.2_Silent_p.I316I|GGT1_uc003aav.2_Silent_p.I316I|GGT1_uc003aaw.2_Silent_p.I316I|GGT1_uc003aax.2_Silent_p.I316I	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	316					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACCACCGCATCGTAGAGGCTT	0.617000														60			10		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327798	16327798	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:16327798G>A	uc003nbt.3	-	7	1715	c.744C>T	c.(742-744)gtC>gtT	p.V248V	ATXN1_uc010jpi.3_Silent_p.V248V|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	248					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGGAAATGTGGACGTACTGGT	0.672000														6			11		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65103622	65103622	+	Missense_Mutation	SNP	T	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:65103622T>A	uc010wqk.2	-	30	5094	c.4907A>T	c.(4906-4908)aAt>aTt	p.N1636I	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.N1635I	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GCTGTTATCATTAAAGTTAGA	0.473000														146			35		0	0	1	0	0
NOP58	51602	broad.mit.edu	37	2	203149128	203149128	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:203149128C>T	uc002uzb.3	+	4	508	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	NOP58_uc010zhv.1_Missense_Mutation_p.R120C	NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	Homo sapiens NOP58 ribonucleoprotein homolog (yeast) (NOP58), mRNA.	120					cell growth|rRNA processing|snRNP protein import into nucleus	Cajal body|box C/D snoRNP complex|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GAGAGGAATTCGTTCACAAAT	0.358000														44			12		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107067	121107067	+	Missense_Mutation	SNP	C	T	T	rs144228850		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:121107067C>T	uc002tmn.2	+	1	887	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	281					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GGTGCAGGCTCGGCTGGGCGA	0.642000														84			20		0	0	1	0	0
SH2D1A	4068	broad.mit.edu	37	X	123504073	123504073	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:123504073C>T	uc004euf.4	+	2	610	c.249C>T	c.(247-249)ctC>ctT	p.L83L	SH2D1A_uc004euh.4_Silent_p.L83L|SH2D1A_uc004eug.4_Intron|SH2D1A_uc010nqw.3_Intron|SH2D1A_uc004eui.4_Non-coding_Transcript|SH2D1A_uc010nqx.3_Intron	NM_002351	NP_002342	O60880	SH21A_HUMAN	Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA.	83	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	p.L83V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TAAAAAATCTCATTTCAGCAT	0.368000														38			26		0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15212337	15212337	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:15212337C>T	uc001mlz.3	+	5	781	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	INSC_uc001mly.3_Missense_Mutation_p.P271S|INSC_uc001mma.3_Missense_Mutation_p.P224S|INSC_uc010rcs.2_Missense_Mutation_p.P259S|INSC_uc001mmb.3_Missense_Mutation_p.P224S|INSC_uc001mmc.3_Missense_Mutation_p.P224S	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	271					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGAGGGGGCTCCCTTGTGCCG	0.517000														89			31		0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925695	114925695	+	Silent	SNP	C	T	T	rs66702705		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:114925695C>T	uc021pyi.1	+	14	2331	c.1824C>T	c.(1822-1824)ccC>ccT	p.P608P	TCF7L2_uc001lah.3_3'UTR|TCF7L2_uc010qro.2_3'UTR|TCF7L2_uc001lae.4_Silent_p.P591P|TCF7L2_uc010qrm.2_3'UTR|TCF7L2_uc010qrn.2_3'UTR|TCF7L2_uc021pyg.1_Silent_p.P324P|TCF7L2_uc021pyh.1_3'UTR|TCF7L2_uc021pyj.1_3'UTR|TCF7L2_uc021pyk.1_Silent_p.P573P|TCF7L2_uc021pyl.1_3'UTR|TCF7L2_uc010qrp.2_3'UTR|TCF7L2_uc021pym.1_3'UTR|TCF7L2_uc021pyn.1_Silent_p.P596P|TCF7L2_uc021pyo.1_3'UTR|TCF7L2_uc021pyp.1_3'UTR|TCF7L2_uc010qrq.2_3'UTR|TCF7L2_uc001lac.4_Silent_p.P585P|TCF7L2_uc010qrk.2_3'UTR|TCF7L2_uc001lad.4_3'UTR|TCF7L2_uc001lag.4_3'UTR|TCF7L2_uc001laf.4_Silent_p.P568P|TCF7L2_uc010qrl.2_Silent_p.P568P|TCF7L2_uc010qrr.2_Silent_p.P523P|TCF7L2_uc010qrs.2_Silent_p.P479P|TCF7L2_uc010qrt.2_Silent_p.P479P|TCF7L2_uc010qru.2_3'UTR|TCF7L2_uc010qrv.2_3'UTR|TCF7L2_uc010qrw.2_3'UTR|TCF7L2_uc010qrx.2_3'UTR	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	608					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGACCCAGCCCCAGCCGCTGT	0.562000			T	VTI1A	colorectal									94			19		0	0	1	0	0
KIAA0895	23366	broad.mit.edu	37	7	36366506	36366506	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:36366506G>A	uc003tfd.2	-	6	1477	c.1426C>T	c.(1426-1428)Cgc>Tgc	p.R476C	KIAA0895_uc003tfc.2_Missense_Mutation_p.R463C|KIAA0895_uc011kax.1_Missense_Mutation_p.R473C|KIAA0895_uc003tfb.2_Missense_Mutation_p.R425C|KIAA0895_uc011kaw.2_Missense_Mutation_p.R373C	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA.	476								p.R476C(2)|p.R463C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTTTTAAGCGATCCACATCT	0.383000														81			21		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8731916	8731916	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:8731916C>T	uc002glq.1	-	10	1521	c.1281G>A	c.(1279-1281)ctG>ctA	p.L427L	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	427					platelet activation	cytosol											CCAGGCGCCCCAGCATCCTGT	0.721000														30			11		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10532971	10532971	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10532971G>A	uc002gmq.2	-	39	5827	c.5739C>T	c.(5737-5739)atC>atT	p.I1913I		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1913					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GAGATTCTGCGATATCCGCAC	0.567000														55			16		0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21822664	21822664	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:21822664G>A	uc001wao.2	-	22	3035	c.2696C>T	c.(2695-2697)tCc>tTc	p.S899F	SUPT16H_uc001wan.2_Missense_Mutation_p.S43F	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	899					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CCAGTTGAGGGACTGTACTCC	0.433000														58			11		0	0	1	0	0
TOMM22	56993	broad.mit.edu	37	22	39078065	39078065	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:39078065C>T	uc003awe.3	+	0	112	c.82C>T	c.(82-84)Cct>Tct	p.P28S	BC036921_uc003awd.3_5'Flank	NM_020243	NP_064628	Q9NS69	TOM22_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 22 homolog (yeast) (TOMM22), nuclear gene encoding mitochondrial protein, mRNA.	28					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					CGCGGAGAAGCCTGAGGAGGA	0.692000														21			5		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371859	139371859	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:139371859G>A	uc004chx.3	-	2	518	c.209C>T	c.(208-210)tCg>tTg	p.S70L	SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.S70L|SEC16A_uc010nbn.3_Missense_Mutation_p.S70L|SEC16A_uc010nbo.1_Missense_Mutation_p.S70L	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	2033					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)		GCTTTTGGACGAACTGCCCAG	0.552000														63			17		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188377	152188377	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152188377C>T	uc001ezt.1	-	2	5804	c.5728G>A	c.(5728-5730)Ggt>Agt	p.G1910S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1910					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTGTTCACCCCTAGATGAC	0.552000														779			47		0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30721579	30721579	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:30721579C>T	uc003tbn.3	-	1	426	c.181G>A	c.(181-183)Gag>Aag	p.E61K	CRHR2_uc010kvw.2_Missense_Mutation_p.E61K|CRHR2_uc010kvx.2_Missense_Mutation_p.E61K|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_5'UTR|CRHR2_uc003tbo.3_Missense_Mutation_p.E47K|CRHR2_uc003tbp.3_Missense_Mutation_p.E88K|CRHR2_uc010kvz.1_Non-coding_Transcript	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	61					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACGGCCTCTCCACGAGGGCT	0.672000														23			8		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10930700	10930700	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10930700C>T	uc002mpt.2	+	15	1906	c.1716C>T	c.(1714-1716)atC>atT	p.I572I	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.I572I|DNM2_uc010dxl.2_Silent_p.I572I|DNM2_uc002mpu.2_Silent_p.I568I|DNM2_uc002mpv.2_Silent_p.I568I|DNM2_uc002mpw.3_Silent_p.I301I|MIR199A1_uc010xlj.1_5'Flank	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	572	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ACCTCAAGATCCGTGATGTGG	0.577000			"""F, N, Splice, Mis, O"""		ETP ALL									119			34		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19377829	19377829	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:19377829G>A	uc010tkp.2	+	0	236	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGTTCCTGGGAAATTTCTCC	0.413000														63			4		0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44949961	44949961	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:44949961G>A	uc002ikw.1	+	1	193	c.156G>A	c.(154-156)ctG>ctA	p.L52L	WNT9B_uc002ikx.1_Silent_p.L52L	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	52					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGGCCCACCTGAAGCAGTGTG	0.701000														99			18		0	0	1	0	0
SH3YL1	26751	broad.mit.edu	37	2	229993	229993	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:229993G>A	uc002qvx.3	-	7	838	c.754C>T	c.(754-756)Cca>Tca	p.P252S	SH3YL1_uc002qvy.3_Missense_Mutation_p.P252S|SH3YL1_uc002qvz.3_Non-coding_Transcript|SH3YL1_uc002qwa.3_Non-coding_Transcript|SH3YL1_uc010ewe.3_Missense_Mutation_p.P156S|SH3YL1_uc002qvv.3_Missense_Mutation_p.P156S|SH3YL1_uc002qvw.3_Non-coding_Transcript	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN	Homo sapiens SH3 domain containing, Ysc84-like 1 (S. cerevisiae) (SH3YL1), transcript variant 1, mRNA.	252										large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		AGCTGGACTGGTGCAGATGAC	0.313000														47			14		0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	893141	893141	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:893141C>T	uc021zym.1	+	9	1169	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	GET4_uc003sjj.1_Non-coding_Transcript|SUN1_uc011jvq.2_Silent_p.L280L|SUN1_uc003sjf.3_Silent_p.L300L|SUN1_uc003sjg.3_Silent_p.L288L|SUN1_uc011jvr.2_Silent_p.L192L|SUN1_uc003sji.3_Silent_p.L221L|SUN1_uc003sjk.3_Silent_p.L22L	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	410					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGAGAATCTCCGAGAGCTGA	0.612000														65			46		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21783578	21783578	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:21783578C>T	uc010iuc.2	-	7	1740	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R	CDH12_uc011cno.1_Missense_Mutation_p.G388R|CDH12_uc003jgk.2_Missense_Mutation_p.G428R	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	428	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TAGCTGTCCCCATCACTCTTC	0.373000										HNSCC(59;0.17)				103			24		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40318550	40318550	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:40318550G>A	uc002hzb.2	-	9	1938	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	535					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTCGTCTGGGAAGTCACGCA	0.562000														44			24		0	0	1	0	0
TMX3	54495	broad.mit.edu	37	18	66378639	66378639	+	Splice_Site	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:66378639A>G	uc002lkf.3	-	3	237	c.102_splice	c.e3-1	p.S34_splice	TMX3_uc010xez.2_Splice_Site|TMX3_uc010xfa.1_Splice_Site_p.S34_splice|TMX3_uc002lkg.4_Splice_Site_p.S34_splice	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	34	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TTTTCTTTAAACCTAAAAAAC	0.279000														47			8		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580620	140580620	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140580620G>A	uc003liy.3	+	0	1273	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	425	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCACCGACTTGGGGAT	0.507000														91			31		0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187934	37187934	+	RNA	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:37187934C>T	uc002hrd.1	+	0		c.1776C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		CCTTTTCCAACCATGCAGAAG	0.488000														26			12		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67255937	67255937	+	Splice_Site	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:67255937G>A	uc002jif.2	-	27	4858	c.3640_splice	c.e27-1	p.P1214_splice	ABCA5_uc002jib.2_Splice_Site_p.P180_splice|ABCA5_uc002jic.2_Splice_Site_p.P437_splice|ABCA5_uc002jid.2_Splice_Site_p.P131_splice|ABCA5_uc002jie.2_Splice_Site|ABCA5_uc002jig.2_Splice_Site_p.P1214_splice	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1214					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTGCAGGTAAGGCTAAAAGAA	0.353000														24			4		0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41192313	41192313	+	Missense_Mutation	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:41192313T>C	uc001zne.3	+	3	1636	c.1297T>C	c.(1297-1299)Tgc>Cgc	p.C433R		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	433					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCCGATTTCTGCTTTCGCCA	0.612000														102			32		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52370060	52370060	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:52370060G>A	uc003xqu.4	-	8	1081	c.980C>T	c.(979-981)cCa>cTa	p.P327L		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	327					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGTTTTACCTGGAAGACTGGA	0.403000														48			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179494147	179494147	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179494147G>A	uc021vsy.1	-	188	36826	c.36601C>T	c.(36601-36603)Cct>Tct	p.P12201S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P5896S|TTN_uc021vta.1_Missense_Mutation_p.P5829S|TTN_uc021vtb.1_Missense_Mutation_p.P5704S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13128	Ig-like 81.						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)			TCCTTTAAAGGCCTCAGAAGA	0.438000														52			12		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21129740	21129740	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:21129740C>T	uc001iqi.3	-	12	1663	c.1266G>A	c.(1264-1266)ggG>ggA	p.G422G	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	422					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCATTCCTTTCCCTTTTATCT	0.333000														10			4		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519497	43519497	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:43519497G>A	uc002ovm.1	-	3	842	c.735C>T	c.(733-735)ttC>ttT	p.F245F	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Silent_p.F123F|PSG11_uc002ovo.1_Silent_p.F123F	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	245	Ig-like C2-type 2.				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)				TGACTGAAGGGAAAATTCTGG	0.473000														112			34		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38955747	38955747	+	Silent	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:38955747A>G	uc003jlo.2	-	25	2581	c.2559T>C	c.(2557-2559)acT>acC	p.T853T	RICTOR_uc003jlp.2_Silent_p.T853T|RICTOR_uc010ivf.2_Silent_p.T568T	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	853					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GCTTCCGGTAAGTAGTAAGTG	0.343000														73			13		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690358	99690358	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:99690358G>A	uc001pga.3	+	3	643	c.139G>A	c.(139-141)Ggt>Agt	p.G47S	CNTN5_uc009ywv.2_Missense_Mutation_p.G47S|CNTN5_uc001pfz.3_Missense_Mutation_p.G47S|CNTN5_uc021qpb.1_Missense_Mutation_p.G47S|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	47					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)		ATCTCTCTTTGGTTCCAAAAC	0.418000														57			10		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7172373	7172373	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:7172373C>T	uc002mgd.1	-	4	1305	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	INSR_uc002mge.1_Missense_Mutation_p.R399Q|INSR_uc002mgf.3_Missense_Mutation_p.R399Q	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	399					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)	AGCGTAGGATCGGCGGATTTT	0.493000														77			27		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040381	103040381	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:103040381C>T	uc002tbx.3	+	3	665	c.181C>T	c.(181-183)Cga>Tga	p.R61*	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	61					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.R61*(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCACAGAAATCGACTCTCACC	0.418000														31			6		0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5610021	5610021	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:5610021G>A	uc002mcd.3	-	8	1493	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	427	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CATACTTGCTGAAAAGGTTCT	0.552000														25			8		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71747918	71747918	+	Splice_Site	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:71747918G>A	uc010fen.3	+	12	1175	c.1034_splice	c.e12-1	p.R345_splice	DYSF_uc010fei.3_Splice_Site_p.R344_splice|DYSF_uc010feh.3_Splice_Site_p.R313_splice|DYSF_uc002sig.4_Splice_Site_p.R313_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.R344_splice|DYSF_uc010fee.3_Splice_Site_p.R313_splice|DYSF_uc010fef.3_Splice_Site_p.R344_splice|DYSF_uc002sie.3_Splice_Site_p.R313_splice|DYSF_uc010feo.3_Splice_Site_p.R345_splice|DYSF_uc010fej.3_Splice_Site_p.R314_splice|DYSF_uc010fel.3_Splice_Site_p.R314_splice|DYSF_uc010fem.3_Splice_Site_p.R314_splice|DYSF_uc002sif.3_Splice_Site_p.R314_splice|DYSF_uc010fek.3_Splice_Site_p.R345_splice	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	313						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTCTCTCTTAGGGCACGCCTA	0.577000														64			22		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15882950	15882950	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:15882950C>T	uc010xor.1	-	2	227	c.207G>A	c.(205-207)ctG>ctA	p.L69L	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		CCTCTGAGGCCAGGTGCTGCC	0.562000														58			12		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200967693	200967693	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:200967693G>A	uc001gvs.2	-	13	2213	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	KIF21B_uc009wzl.2_Silent_p.F632F|KIF21B_uc001gvr.2_Silent_p.F632F|KIF21B_uc010ppn.2_Silent_p.F632F	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	632					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTCCGCCTGGAAGTTCACCT	0.612000														72			15		0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78110088	78110088	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:78110088G>A	uc010wuc.2	-	10	1103	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S	EIF4A3_uc002jxs.3_Missense_Mutation_p.P344S	NM_014740	NP_055555	P38919	IF4A3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA.	344	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GACACCTGAGGGACATCCAAC	0.438000														46			10		0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080729	194080729	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:194080729G>A	uc003ftt.3	-	2	1187	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	LRRC15_uc003ftu.3_Silent_p.L348L|LRRC15_uc021xiy.1_Silent_p.L348L	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	348						integral to membrane		p.Q354Q(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CGTTGGTGTGGAGGGACAGCT	0.597000														35			10		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35691312	35691312	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:35691312G>A	uc003jjo.3	+	10	1809	c.1698G>A	c.(1696-1698)ggG>ggA	p.G566G	SPEF2_uc003jjq.4_Silent_p.G566G|SPEF2_uc003jjp.1_Silent_p.G57G	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	566					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)			GCTTATTGGGGAAAACATTAA	0.398000														78			28		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51128505	51128505	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51128505C>T	uc002pst.3	-	6	2255	c.1621G>A	c.(1621-1623)Gct>Act	p.A541T	SYT3_uc002psv.3_Missense_Mutation_p.A541T|SYT3_uc010ycd.2_Missense_Mutation_p.A541T	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	541						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGTCGGCAGCGTCGGGGCCC	0.692000														7			4		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16255422	16255422	+	Splice_Site	SNP	C	T	T	rs72664210		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:16255422C>T	uc002den.4	-	25	3544	c.3507_splice	c.e25-1	p.R1169_splice	ABCC6_uc010bvo.3_Splice_Site	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1169	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CGCAAGCCACCTGCAAAGGGA	0.582000														32			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13762831	13762831	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:13762831C>T	uc003jfd.2	-	60	10323	c.10281_splice	c.e60+1	p.K3427_splice	DNAH5_uc003jfc.2_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3427	Stalk (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)					GCAGGCTTACCTTCAGAGGCA	0.502000									Kartagener syndrome					27			13		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13959930	13959930	+	Silent	SNP	C	T	T	rs142136870		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:13959930C>T	uc003wwq.3	-	6	1359	c.699G>A	c.(697-699)aaG>aaA	p.K233K	SGCZ_uc010lss.3_Silent_p.K186K	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	220					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGCAGGTGGCCTTGAAGTCTC	0.522000														24			16		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719114	42719114	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:42719114C>T	uc021xxv.1	+	9	1663	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	GHR_uc003jmt.3_Missense_Mutation_p.S502F|GHR_uc003jmu.3_Missense_Mutation_p.S502F|GHR_uc003jmv.2_Missense_Mutation_p.S502F|GHR_uc021xxw.1_Missense_Mutation_p.S502F|GHR_uc021xxx.1_Missense_Mutation_p.S502F|GHR_uc021xxy.1_Missense_Mutation_p.S502F|GHR_uc021xxz.1_Missense_Mutation_p.S502F|GHR_uc021xya.1_Missense_Mutation_p.S502F|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.S315F|GHR_uc021xyd.1_Missense_Mutation_p.S480F	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	502					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTGGTCCTTTCCCCGGGCCAA	0.488000														47			13		0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31349635	31349635	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:31349635G>A	uc001bse.2	-	2	681	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	SDC3_uc001bsd.2_Silent_p.L154L	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	212	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGAGGCAGAAGCCTCCGT	0.682000														42			14		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77885269	77885269	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:77885269G>A	uc003ugx.3	-	9	2292	c.2038C>T	c.(2038-2040)Cat>Tat	p.H680Y	MAGI2_uc003ugy.3_Missense_Mutation_p.H680Y|MAGI2_uc010ldx.1_Missense_Mutation_p.H289Y|MAGI2_uc010ldy.1_Missense_Mutation_p.H289Y|MAGI2_uc011kgr.1_Missense_Mutation_p.H512Y|MAGI2_uc011kgs.1_Missense_Mutation_p.H517Y	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	680	PDZ 3.					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)				CCTCCTCGATGGATAATCAAA	0.368000														9			13		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764540	184764540	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:184764540C>T	uc001gra.3	-	13	2552	c.2358G>A	c.(2356-2358)ggG>ggA	p.G786G	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	786	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTGGAAATCCCCCCAACTCCT	0.667000														272			134		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241535900	241535900	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:241535900C>T	uc002vzk.2	+	7	1639	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Intron|CAPN10_uc002vzn.2_Silent_p.F353F|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	481	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CAGGGGAGTTCCTGCTCCGAG	0.637000														49			11		0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362944	153362944	+	Missense_Mutation	SNP	T	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:153362944T>A	uc001fbs.3	-	1	238	c.68A>T	c.(67-69)aAg>aTg	p.K23M		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	23	EF-hand 1.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAATTCCCCTTTATCAGGGA	0.532000														231			145		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2711109	2711109	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:2711109C>T	uc009zdu.1	+	22	3316	c.3003C>T	c.(3001-3003)ctC>ctT	p.L1001L	CACNA1C_uc001qkc.2_Silent_p.L981L|CACNA1C_uc001qjz.2_Silent_p.L981L|CACNA1C_uc001qkd.2_Silent_p.L981L|CACNA1C_uc001qke.2_Silent_p.L981L|CACNA1C_uc001qkf.2_Silent_p.L981L|CACNA1C_uc009zdw.1_Silent_p.L981L|CACNA1C_uc001qkg.2_Silent_p.L981L|CACNA1C_uc001qkh.2_Silent_p.L981L|CACNA1C_uc001qkl.2_Silent_p.L1001L|CACNA1C_uc001qkj.2_Silent_p.L981L|CACNA1C_uc001qkk.2_Silent_p.L981L|CACNA1C_uc001qkn.2_Silent_p.L981L|CACNA1C_uc001qkm.2_Silent_p.L981L|CACNA1C_uc001qko.2_Silent_p.L1001L|CACNA1C_uc001qkp.2_Silent_p.L981L|CACNA1C_uc001qkq.2_Silent_p.L981L|CACNA1C_uc001qku.2_Silent_p.L981L|CACNA1C_uc001qkr.2_Silent_p.L981L|CACNA1C_uc001qks.2_Silent_p.L981L|CACNA1C_uc001qkt.2_Silent_p.L981L|CACNA1C_uc009zdv.1_Silent_p.L978L|CACNA1C_uc001qkb.2_Silent_p.L981L|CACNA1C_uc001qka.1_Silent_p.L516L|CACNA1C_uc001qki.1_Silent_p.L717L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1001					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCGTGTCCCTCATCTCCTTTG	0.592000														44			17		0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1857719	1857719	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:1857719C>T	uc001lue.1	+	5	751	c.623C>T	c.(622-624)tCg>tTg	p.S208L	SYT8_uc001lud.2_Missense_Mutation_p.S208L|TNNI2_uc021qbt.1_5'Flank|TNNI2_uc021qbu.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	208	C2 1.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGCGCTTCTCGGGGCATGAG	0.672000														31			5		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107720054	107720054	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:107720054C>T	uc010ljo.1	-	14	1963	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	LAMB4_uc003vey.2_Missense_Mutation_p.E627K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	627	Laminin IV type B.				cell adhesion	basement membrane				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						ACCTGGGTTTCATAGTGAATG	0.453000														52			30		0	0	1	0	0
SPP2	6694	broad.mit.edu	37	2	234967584	234967584	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:234967584C>T	uc002vvk.1	+	2	400	c.315C>T	c.(313-315)ttC>ttT	p.F105F	SPP2_uc010fyl.1_Silent_p.F25F	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	105					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CATGTGCCTTCCAGAGGGACT	0.478000														31			11		0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695497	219695497	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:219695497C>T	uc002vjb.1	-	2	220	c.201G>A	c.(199-201)gaG>gaA	p.E67E	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Silent_p.E67E|PRKAG3_uc010zko.1_Silent_p.E67E	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	67					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCCCTTCCTCCACCGACT	0.617000														90			27		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603882	52603882	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:52603882C>T	uc001jjj.3	-	4	288	c.100_splice	c.e4-1	p.E34_splice	A1CF_uc010qho.2_Splice_Site_p.E42_splice|A1CF_uc010qhn.2_Splice_Site_p.E42_splice|A1CF_uc009xov.3_Splice_Site_p.E34_splice|A1CF_uc001jji.3_Splice_Site_p.E34_splice|A1CF_uc001jjh.3_Splice_Site_p.E42_splice|A1CF_uc001jjk.1_Splice_Site_p.E34_splice	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	34					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E42K(2)|p.E34K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGTCCATTTTCCTGCAAATCC	0.413000														43			16		0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703782	33703782	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:33703782G>A	uc002num.2	-	2	630	c.483C>T	c.(481-483)tcC>tcT	p.S161S	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.2_Silent_p.S134S	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	161					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ACAGCACCCGGGAGGCTGTGG	0.627000														72			21		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87051439	87051439	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:87051439G>A	uc003uiv.1	-	17	2390	c.2314C>T	c.(2314-2316)Cag>Tag	p.Q772*	ABCB4_uc003uiw.1_Nonsense_Mutation_p.Q772*|ABCB4_uc003uix.1_Nonsense_Mutation_p.Q772*	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	772	ABC transmembrane type-1 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTACCTACCTGAAGGAAGAAA	0.323000														15			13		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1115512	1115512	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:1115512G>A	uc001acy.2	+	5	449	c.298G>A	c.(298-300)Gac>Aac	p.D100N	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.D100N|TTLL10_uc001acz.2_Missense_Mutation_p.D27N	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	100					protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGTGGGCCGGACCTGGAGGG	0.692000														21			7		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107016580	107016580	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:107016580C>T	uc001kyi.1	+	24	3568	c.3341C>T	c.(3340-3342)cCa>cTa	p.P1114L		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1114						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCCAAGCTCCATTGGTGGAC	0.453000														26			8		0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29844720	29844720	+	Nonsense_Mutation	SNP	G	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:29844720G>T	uc002hgn.1	+	3	617	c.388G>T	c.(388-390)Gaa>Taa	p.E130*	RAB11FIP4_uc002hgo.2_Nonsense_Mutation_p.E28*	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	130	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CATCCCCAGGGAACCCGGCTT	0.617000														9			3		0.184627	0.184741	1	1	0
USHBP1	83878	broad.mit.edu	37	19	17370413	17370413	+	Silent	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:17370413T>C	uc002nfs.1	-	5	1010	c.897A>G	c.(895-897)caA>caG	p.Q299Q	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.Q235Q|USHBP1_uc010eam.1_Silent_p.Q227Q	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	299							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						ACCCCCGGAGTTGCTCCATCT	0.567000														232			50		0	0	1	0	0
HTN1	3346	broad.mit.edu	37	4	70921242	70921242	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:70921242C>T	uc003hex.3	+	4	197	c.130C>T	c.(130-132)Cca>Tca	p.P44S		NM_002159	NP_002150	P15515	HIS1_HUMAN	Homo sapiens histatin 1 (HTN1), mRNA.	44					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						TCGAGAATTTCCATTTTATGG	0.358000														30			10		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988200	113988200	+	Missense_Mutation	SNP	T	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:113988200T>A	uc003ynu.3	-	6	1367	c.1208A>T	c.(1207-1209)aAt>aTt	p.N403I	CSMD3_uc003ynt.3_Missense_Mutation_p.N363I|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	403						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGACCTGAATTTCTGAGACT	0.493000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				78			54		0	0	1	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33053608	33053608	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:33053608C>T	uc003ocu.2	+	3	815	c.699C>T	c.(697-699)ttC>ttT	p.F233F	HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_Silent_p.F129F	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	233					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CTGGGGGCTTCGTGCTGGGGC	0.582000														81			16		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13414696	13414696	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:13414696G>A	uc002mwy.3	-	15	2225	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	CACNA1A_uc010dzc.2_Silent_p.I189I|CACNA1A_uc010xnd.2_Silent_p.I663I|CACNA1A_uc021ups.1_Silent_p.I663I|CACNA1A_uc010xne.2_Silent_p.I663I|CACNA1A_uc010dze.2_Silent_p.I663I|CACNA1A_uc021upt.1_Silent_p.I664I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	664					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)	CGCCCGTCAGGATCTGAAAGG	0.602000														117			38		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151876967	151876967	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:151876967G>A	uc003wla.3	-	36	7613	c.7394C>T	c.(7393-7395)cCc>cTc	p.P2465L	MLL3_uc003wkz.3_Missense_Mutation_p.P1526L|MLL3_uc003wky.3_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2465	Pro-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)		AGGAGGATAGGGTCCACGCTG	0.458000			N		medulloblastoma									207			28		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	379850	379850	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:379850C>T	uc003zgf.2	+	20	2632	c.2520C>T	c.(2518-2520)gaC>gaT	p.D840D	DOCK8_uc022bcu.1_Silent_p.D772D|DOCK8_uc010mgv.3_Silent_p.D772D|DOCK8_uc010mgu.3_Silent_p.D142D|DOCK8_uc010mgw.2_Silent_p.D142D|DOCK8_uc003zgk.2_Silent_p.D298D|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	840					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)		TGAGCAAGGACCAGCATGGGA	0.562000														40			11		0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10662728	10662728	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10662728C>T	uc002mov.3	+	7	1173	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	ATG4D_uc010xlh.2_Silent_p.F288F|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_Silent_p.F18F|MIR1238_uc021uoy.1_5'Flank	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	351					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CAGATGACTTCCTGCTGTACC	0.642000														57			17		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15789169	15789169	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:15789169C>T	uc002nbl.3	+	2	416	c.297C>T	c.(295-297)atC>atT	p.I99I	CYP4F12_uc010xoo.2_Silent_p.I99I|CYP4F12_uc010xop.2_Silent_p.I99I	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.I99I(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TCCCCTTCATCGTTTTATGCC	0.547000														124			36		0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475129	50475129	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:50475129C>T	uc010ybk.1	+	2	160	c.54C>T	c.(52-54)tcC>tcT	p.S18S	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						ACGGCACATCCCTCCGGGTCC	0.657000														38			16		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749343	43749343	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:43749343G>A	uc001zrs.3	-	11	1596	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	TP53BP1_uc010udp.2_Missense_Mutation_p.S483L|TP53BP1_uc001zrq.4_Missense_Mutation_p.S488L|TP53BP1_uc001zrr.4_Missense_Mutation_p.S488L|TP53BP1_uc010udq.1_Missense_Mutation_p.S488L	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	483					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGTCAAAGATGAACTATGCAT	0.388000								Other conserved DNA damage response genes						27			7		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958543	78958543	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:78958543G>A	uc001din.3	+	1	381	c.115G>A	c.(115-117)Gtg>Atg	p.V39M	PTGFR_uc001dim.3_Missense_Mutation_p.V39M	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	39					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CTTCATGACAGTGGGAATCTT	0.463000														73			21		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107005420	107005420	+	Missense_Mutation	SNP	C	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:107005420C>A	uc001kyi.1	+	20	3216	c.2989C>A	c.(2989-2991)Cat>Aat	p.H997N	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	997						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GATTGCAGTTCATGGTAAGCC	0.488000														26			22		7.41877e-09	7.46001e-09	1	1	0
R3HDM1	23518	broad.mit.edu	37	2	136481533	136481533	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:136481533G>A	uc002tuo.3	+	25	3341	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	R3HDM1_uc010fni.3_Missense_Mutation_p.E990K|R3HDM1_uc002tup.3_Missense_Mutation_p.E936K|R3HDM1_uc010zbh.2_Missense_Mutation_p.E739K	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	991							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGAAATTACTGAACTACCAGA	0.443000														80			30		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47808954	47808954	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:47808954G>A	uc003gxm.3	-	1	267	c.174C>T	c.(172-174)ctC>ctT	p.L58L	CORIN_uc011bzg.2_Silent_p.L58L|CORIN_uc011bzh.1_Silent_p.L58L|CORIN_uc011bzi.1_Silent_p.L58L|CORIN_uc003gxn.4_Silent_p.L58L	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	58					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCAAGAGAACGAGAGCACAGA	0.443000														21			4		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237921077	237921077	+	Splice_Site	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:237921077G>A	uc001hyl.1	+	82	11445	c.11325_splice	c.e82+1	p.Q3775_splice	RYR2_uc010pya.2_Splice_Site_p.Q190_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3775					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)			AGTACAGCAGGTAACAGCTTC	0.323000														72			41		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862509	43862509	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:43862509C>T	uc010skx.2	-	8	1118	c.1118_splice	c.e8-1	p.G373_splice		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	373	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TATGATAAACCTGAAAAATTT	0.294000														31			8		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66802139	66802139	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:66802139G>A	uc009yrl.3	+	2	288	c.58G>A	c.(58-60)Gag>Aag	p.E20K	SYT12_uc001oju.3_Missense_Mutation_p.E20K	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	20						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCCTGGCTGGGAGGTGGGTGT	0.647000														68			8		0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149784693	149784693	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:149784693C>T	uc003lsc.3	-	4	679	c.492G>A	c.(490-492)gaG>gaA	p.E164E	CD74_uc003lsd.3_Silent_p.E164E|CD74_uc003lse.3_Intron	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	164					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCTCAGGTTCTCCGGGAAGC	0.562000			T	ROS1	NSCLC									71			47		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12721462	12721462	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:12721462C>T	uc002mtz.2	-	0	162	c.33G>A	c.(31-33)atG>atA	p.M11I	ZNF791_uc002mua.2_5'Flank|ZNF791_uc010xml.1_5'Flank|ZNF791_uc010dyu.1_5'Flank|ZNF791_uc010xmm.1_5'Flank	NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						GGGGTCGCTCCATCTGGAAAC	0.582000														53			14		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137207	40137207	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:40137207G>A	uc021qgf.1	-	0	636	c.636C>T	c.(634-636)atC>atT	p.I212I	LRRC4C_uc001mxc.1_Silent_p.I208I|LRRC4C_uc001mxd.1_Silent_p.I208I|LRRC4C_uc001mxa.1_Silent_p.I212I|LRRC4C_uc001mxb.1_Silent_p.I208I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	212					regulation of axonogenesis	integral to membrane	protein binding	p.E211*(1)		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)				TGAGGTTAGGGATTTCCCGAA	0.458000														51			21		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048299	42048299	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:42048299C>T	uc001cgz.4	-	3	3383	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K	HIVEP3_uc001cha.4_Missense_Mutation_p.E724K|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.	724	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				GGCTCTTCCTCGTCCCCAAGG	0.557000														57			15		0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145641270	145641270	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:145641270G>A	uc003zcq.3	-	1	498	c.398C>T	c.(397-399)cCc>cTc	p.P133L	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_Missense_Mutation_p.P108L	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	133						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGGGCCTTGGGGCTCTCGAG	0.701000														18			8		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153594422	153594422	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:153594422G>A	uc004fkk.2	-	8	1648	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	FLNA_uc010nuu.1_Missense_Mutation_p.R467C	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	467					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TAGGGGCTGCGAGGGATGGGC	0.687000														25			15		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658331	49658331	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:49658331C>T	uc001jgu.3	-	8	2186	c.1889G>A	c.(1888-1890)cGg>cAg	p.R630Q	ARHGAP22_uc001jgs.3_Missense_Mutation_p.R524Q|ARHGAP22_uc001jgt.3_Missense_Mutation_p.R614Q|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R571Q|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R620Q|ARHGAP22_uc001jgv.3_Missense_Mutation_p.R312Q|ARHGAP22_uc001jgr.3_Missense_Mutation_p.R331Q	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	614					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	p.D630E(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTACTCAGTCCGCTGGCGGCA	0.682000														13			6		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48667522	48667522	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:48667522G>A	uc003cuf.1	-	47	11610	c.11610C>T	c.(11608-11610)tcC>tcT	p.S3870S	CELSR3_uc003cug.3_Silent_p.S444S|CELSR3_uc011bbp.2_Silent_p.S429S|CELSR3_uc010hke.3_Silent_p.S316S|CELSR3_uc003cuk.3_Silent_p.S358S|CELSR3_uc003cuh.3_Silent_p.S465S|CELSR3_uc003cui.3_Silent_p.S465S|CELSR3_uc003cuj.3_Silent_p.S465S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTTCCAGAGGGAGCGCATGT	0.667000														57			16		0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36171685	36171685	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:36171685G>A	uc002yuh.3	-	4	2377	c.799C>T	c.(799-801)Cct>Tct	p.P267S	RUNX1_uc010gmu.3_Missense_Mutation_p.P294S|RUNX1_uc010gmv.3_Missense_Mutation_p.P294S|RUNX1_uc002yuj.4_Missense_Mutation_p.P162S|RUNX1_uc002yuk.4_Missense_Mutation_p.P294S|RUNX1_uc002yul.1_Missense_Mutation_p.P59S|RUNX1_uc002yum.1_Missense_Mutation_p.P98S	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	Homo sapiens runt-related transcription factor 1 (RUNX1), transcript variant 2, mRNA.	267	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|calcium ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.Q266*(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGCACAGAAGGAGAGGCAATG	0.517000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""									59			23		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204125846	204125846	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:204125846G>A	uc001haq.2	-	6	821	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	259					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TGATGAGGTTGATATAGTGGA	0.522000														75			63		0	0	1	0	0
GGH	8836	broad.mit.edu	37	8	63939747	63939747	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:63939747G>A	uc003xuw.3	-	3	636	c.353C>T	c.(352-354)tCc>tTc	p.S118F		NM_003878	NP_003869	Q92820	GGH_HUMAN	Homo sapiens gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) (GGH), mRNA.	118	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TACCTGTATGGACAAGTTATA	0.368000														76			27		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119965205	119965205	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:119965205G>A	uc001ehs.3	+	2	1854	c.1081G>A	c.(1081-1083)Gac>Aac	p.D361N	HSD3B2_uc021ost.1_Missense_Mutation_p.D361N|HSD3B2_uc001eht.3_Missense_Mutation_p.D361N|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	361					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TTCCCTTGTGGACCGGCACAA	0.502000														32			9		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121350826	121350826	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:121350826C>T	uc003eeh.4	-	13	1453	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	HCLS1_uc011bjj.2_Missense_Mutation_p.G406E	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	443	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CTCATCACTTCCCTCTGGGGA	0.522000														118			30		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933529	94933529	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:94933529G>A	uc001ydf.3	-	2	1034	c.873C>T	c.(871-873)ctC>ctT	p.L291L	SERPINA9_uc001yde.3_Silent_p.L191L|SERPINA9_uc010avc.3_Silent_p.L142L|SERPINA9_uc001ydg.3_Silent_p.L255L|SERPINA9_uc001ydh.1_Silent_p.L291L|SERPINA9_uc001ydi.1_Silent_p.L255L	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	273					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CCTTGCTAGGGAGGACAAAGA	0.522000														52			18		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175189508	175189508	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:175189508C>T	uc003fit.3	+	8	1702	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S	NAALADL2_uc003fiu.1_Missense_Mutation_p.P532S|NAALADL2_uc010hwy.1_Missense_Mutation_p.P313S|NAALADL2_uc010hwz.1_Missense_Mutation_p.P133S	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	539					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TAGTCTGTATCCTGTAGCATC	0.368000														15			9		0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31540580	31540580	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31540580C>T	uc011dnu.1	+	1	274	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F	LTA_uc003nue.1_Missense_Mutation_p.L21F|LTA_uc003nuf.3_5'Flank|LTA_uc003nuh.3_5'Flank|LTA_uc003nug.3_5'Flank|LTA_uc010jsr.3_5'Flank|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	21					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	ACACCTCCTCCTTCTGGGGCT	0.612000														104			21		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531469	92531469	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:92531469G>A	uc001pdj.4	+	8	5307	c.5290G>A	c.(5290-5292)Gat>Aat	p.D1764N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1764	Cadherin 15.				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)				TGATGAAAATGATAATGCCCC	0.433000										TCGA Ovarian(4;0.039)				35			13		0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48621014	48621014	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:48621014G>A	uc002pia.1	-	25	2584	c.2464C>T	c.(2464-2466)Cct>Tct	p.P822S	LIG1_uc010xze.1_Missense_Mutation_p.P515S|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.P754S|LIG1_uc010xzg.1_Missense_Mutation_p.P791S	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	822					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CGCACGTAAGGGCGTGGGCTG	0.612000								Nucleotide excision repair (NER)						19			3		0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26063727	26063727	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:26063727G>A	uc003abx.4	+	5	610	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	ADRBK2_uc010gux.3_Missense_Mutation_p.E155K|ADRBK2_uc003abw.2_Missense_Mutation_p.E42K|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	155	N-terminal.|RGS.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AGAAATTTGTGAAAGCCTTCG	0.328000														50			4		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81611886	81611886	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:81611886G>A	uc003uhr.1	-	23	2208	c.1952C>T	c.(1951-1953)cCa>cTa	p.P651L		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	663						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AACCAACCTTGGTGCTATGAA	0.373000														67			10		0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126642	19126642	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:19126642C>T	uc002dfu.4	+	0	1389	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	ITPRIPL2_uc002dft.3_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.	287						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGAACAGCCCCCCACCTTACA	0.632000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			26		0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147134	70147134	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:70147134G>A	uc004dyn.3	-	7	1458	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	SLC7A3_uc004dyo.3_Silent_p.L428L	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	428					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGTCTCACCTGAGGATGAGAA	0.453000														9			9		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55136553	55136553	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:55136553C>T	uc010ooe.1	+	6	1874	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.S85F|HEATR8_uc010ood.1_Missense_Mutation_p.S35F|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.S517F|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	517						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCCTGCCCTCCGTGCAGGCG	0.652000														17			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067623	9067623	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9067623G>A	uc002mkp.3	-	2	20027	c.19823C>T	c.(19822-19824)tCg>tTg	p.S6608L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6610	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						TGGGACAGACGAATAAGATTC	0.443000														157			54		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881158	142881159	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142881158_142881159GG>AA	uc011ksw.2	+	0	647_648	c.647_648GG>AA	c.(646-648)ggg>gAA	p.G216E		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	216					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.G216R(1)|p.G216W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTTAACCTGGGGATTGTGACTC	0.465000														84			46		0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431753	31431753	+	RNA	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31431753C>T	uc003ntl.3	+	1		c.706C>T			HCP5_uc021yup.1_Non-coding_Transcript			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						ccgctggtctctggacacata	0.527000														108			49		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640237	99640237	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:99640237G>A	uc001tge.2	-	12	2579	c.2162C>T	c.(2161-2163)tCa>tTa	p.S721L	ANKS1B_uc001tgf.2_Missense_Mutation_p.S301L|ANKS1B_uc001tgk.3_Missense_Mutation_p.S18L|ANKS1B_uc009ztt.1_Missense_Mutation_p.S687L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	721						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTAGGCAATGACCTTATTCT	0.458000														50			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740411	140740411	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140740411G>A	uc003ljs.2	+	0	709	c.709G>A	c.(709-711)Gat>Aat	p.D237N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.D237N	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	237	Cadherin 2.				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)			GGATGCCAACGATAACCCTCC	0.567000														68			18		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100170967	100170967	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:100170967G>A	uc002taf.3	-	22	3584	c.3440C>T	c.(3439-3441)cCc>cTc	p.P1147L	AFF3_uc002tag.3_Missense_Mutation_p.P1122L	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	1122					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGGGGTTGGGAGACATGGG	0.667000														24			9		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40056421	40056421	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:40056421G>A	uc003ayc.3	+	14	2677	c.2677G>A	c.(2677-2679)Gaa>Aaa	p.E893K	CACNA1I_uc003ayd.3_Missense_Mutation_p.E858K|CACNA1I_uc003aye.3_Missense_Mutation_p.E808K|CACNA1I_uc003ayf.3_Missense_Mutation_p.E773K	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	893					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TAAGCTCCAGGAAGGCCTGGA	0.572000														25			22		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701198	30701198	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:30701198G>A	uc003xil.3	-	0	5336	c.5336C>T	c.(5335-5337)tCa>tTa	p.S1779L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1779										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)		TACATAGTATGAATTCTTTTC	0.323000														19			9		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758566	5758566	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:5758566G>A	uc001mbt.2	+	0	889	c.820G>A	c.(820-822)Gag>Aag	p.E274K	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	274					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)		TCATCTGACAGAGATGAAGGC	0.438000														216			55		0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41122983	41122983	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:41122983C>T	uc003xnt.3	-	2	960	c.648G>A	c.(646-648)gtG>gtA	p.V216V		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	216	NTR.				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	p.V215M(1)		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)			TTTCTTTTTTCACTTCTTTTA	0.418000														19			7		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72294536	72294536	+	Missense_Mutation	SNP	A	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:72294536A>C	uc010rrc.2	-	19	1920	c.1674T>G	c.(1672-1674)aaT>aaG	p.N558K	PDE2A_uc001oso.3_Missense_Mutation_p.N537K|PDE2A_uc010rra.2_Missense_Mutation_p.N551K|PDE2A_uc001osn.3_Missense_Mutation_p.N302K|PDE2A_uc010rrb.2_Missense_Mutation_p.N549K|PDE2A_uc010rrd.2_Missense_Mutation_p.N443K	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	558					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)	ACTGAGCCTCATTCACTTTTT	0.522000														77			17		0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166250	180166250	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:180166250C>T	uc003mmf.1	-	0	809	c.809G>A	c.(808-810)gGa>gAa	p.G270E		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACAAATTTTCCCTCACGCTC	0.413000														108			30		0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61331072	61331072	+	Silent	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:61331072T>C	uc002saw.4	+	12	1753	c.1450T>C	c.(1450-1452)Ttg>Ctg	p.L484L	KIAA1841_uc002sax.4_Silent_p.L338L|KIAA1841_uc002say.3_Silent_p.L484L	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	484										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TGCTAGAATGTTGGACGATTT	0.448000														39			10		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054550	106054550	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:106054550C>T	uc001yrt.3	-	1	232	c.201G>A	c.(199-201)ggG>ggA	p.G67G	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		TGTACAGGTCCCCGGAGGCAT	0.622000														59			23		0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782587	134782587	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:134782587C>T	uc003lav.3	-	0	452	c.212G>A	c.(211-213)gGg>gAg	p.G71E		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	71						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTGTTCCTCCCTGGAGGGTA	0.602000														32			9		0	0	1	0	0
KDELR1	10945	broad.mit.edu	37	19	48892884	48892884	+	Missense_Mutation	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:48892884A>G	uc002pjb.1	-	2	472	c.277T>C	c.(277-279)Ttc>Ctc	p.F93L	KDELR1_uc002pja.1_Missense_Mutation_p.F31L	NM_006801	NP_006792	P24390	ERD21_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 (KDELR1), mRNA.	93					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TCCACTCTGAACGTGTCATGG	0.522000														75			19		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22171589	22171589	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:22171589G>A	uc021urr.1	-	1	275	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ZNF208_uc002nqo.1_Silent_p.F42F|ZNF208_uc002nqq.3_Non-coding_Transcript	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCACCCAGGAAGACCAGGT	0.418000														123			21		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887648	3887648	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:3887648G>A	uc003bpt.4	+	1	2084	c.1323G>A	c.(1321-1323)acG>acA	p.T441T	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.T441T	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	441	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATATCGGCACGACGGTTTTCC	0.458000														60			19		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15829430	15829430	+	Missense_Mutation	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:15829430T>C	uc002ddx.3	-	26	3427	c.3320A>G	c.(3319-3321)gAc>gGc	p.D1107G	MYH11_uc002ddv.3_Missense_Mutation_p.D1107G|MYH11_uc002ddw.3_Missense_Mutation_p.D1100G|MYH11_uc002ddy.3_Missense_Mutation_p.D1100G|MYH11_uc010bvg.3_Missense_Mutation_p.D932G	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1100					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GATTTCATCGTCAAGCCTTCC	0.552000			T	CBFB	AML									61			13		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166973437	166973437	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:166973437C>T	uc001gdy.1	+	5	615	c.544C>T	c.(544-546)Cct>Tct	p.P182S	MAEL_uc021peh.1_Missense_Mutation_p.P126S|MAEL_uc001gdz.1_Missense_Mutation_p.P151S|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	182					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						TCACAAGATTCCTATTTCAAA	0.388000														68			68		0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99817763	99817763	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:99817763C>T	uc003uue.2	+	3	517	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|GATS_uc011kjl.2_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Missense_Mutation_p.R49W	NM_024070	NP_076975	Q6DKI7	PVRIG_HUMAN	Homo sapiens poliovirus receptor related immunoglobulin domain containing (PVRIG), mRNA.	49						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTTCAAGTTCGGATGGAGGC	0.647000														15			6		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285986	238285986	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:238285986C>T	uc002vwl.2	-	7	2783	c.2498_splice	c.e7-1	p.E833_splice	COL6A3_uc002vwo.2_Splice_Site_p.E627_splice|COL6A3_uc010znj.1_Splice_Site_p.E226_splice|COL6A3_uc002vwq.3_Splice_Site_p.E627_splice|COL6A3_uc002vwr.3_Splice_Site_p.E426_splice|COL6A3_uc010znk.1_Splice_Site_p.E633_splice	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	833	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCGCTTGCTCTCTGCAATGA	0.478000														43			18		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335338	20335338	+	Missense_Mutation	SNP	C	T	T	rs147629855	by1000genomes	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:20335338C>T	uc002dgv.3	-	2	418	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	GP2_uc002dgw.3_Missense_Mutation_p.R112Q|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	112						anchored to membrane|extracellular region|plasma membrane		p.H111Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGTCTGGCATCGGTGCACCTG	0.597000														68			32		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433100	179433100	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179433100C>T	uc021vsy.1	-	274	70280	c.70055G>A	c.(70054-70056)gGc>gAc	p.G23352D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G17047D|TTN_uc021vta.1_Missense_Mutation_p.G16980D|TTN_uc021vtb.1_Missense_Mutation_p.G16855D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24279	Fibronectin type-III 69.						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)			GATTTGGCAGCCCCCTGTATA	0.408000														29			9		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313910	54313910	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:54313910C>T	uc002qcj.4	-	2	1223	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E335K|NLRP12_uc002qci.4_Missense_Mutation_p.E335K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E335K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	335	NACHT.				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.P334P(1)		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)		AAAGATAGCTCAGGGAGCAGC	0.582000														95			13		0	0	1	0	0
AK4	205	broad.mit.edu	37	1	65684562	65684562	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:65684562C>T	uc001dby.3	+	3	638	c.391C>T	c.(391-393)Cct>Tct	p.P131S	AK4_uc009wan.3_Missense_Mutation_p.P79S|AK4_uc001dbz.3_Missense_Mutation_p.P131S|AK4_uc001dca.3_Missense_Mutation_p.P131S	NM_203464	NP_982289	P27144	KAD4_HUMAN	Homo sapiens adenylate kinase 4 (AK4), nuclear gene encoding mitochondrial protein, transcript variant 7, mRNA.	131						mitochondrial matrix	ATP binding|GTP binding|adenylate kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						GATTCACCCTCCTAGCGGAAG	0.408000														30			14		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141708471	141708471	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:141708471G>A	uc003vwy.3	+	2	347	c.293G>A	c.(292-294)cGa>cAa	p.R98Q		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	98	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R98Q(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAATTGGAACGAATTAATTGC	0.403000														42			47		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101765776	101765776	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:101765776C>T	uc004azb.1	+	7	1313	c.1107C>T	c.(1105-1107)atC>atT	p.I369I		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	369	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.P368H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGTGCCCATCAGCACTGCTG	0.577000														54			46		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935965	94935965	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:94935965G>A	uc001ydf.3	-	1	428	c.267C>T	c.(265-267)tcC>tcT	p.S89S	SERPINA9_uc001yde.3_Silent_p.S89S|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Silent_p.S53S|SERPINA9_uc001ydh.1_Silent_p.S89S|SERPINA9_uc001ydi.1_Silent_p.S53S	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	71					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACTCACAGGGGAGAAGAAGA	0.582000														68			21		0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148084	70148084	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:70148084C>T	uc004dyn.3	-	4	905	c.731G>A	c.(730-732)gGa>gAa	p.G244E	SLC7A3_uc004dyo.3_Missense_Mutation_p.G244E	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	244					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGGCACAAATCCTCCAGAGCC	0.493000														8			5		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32064385	32064385	+	Missense_Mutation	SNP	C	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:32064385C>G	uc003nzl.2	-	2	1447	c.1245G>C	c.(1243-1245)gaG>gaC	p.E415D		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	415	EGF-like 9.				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						AGCGGCCGTCCTCGCAGCGGC	0.711000														7			8		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150694	128150694	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:128150694C>T	uc011ebt.2	-	2	785	c.636G>A	c.(634-636)acG>acA	p.T212T	THEMIS_uc010kfa.3_Silent_p.T115T|THEMIS_uc021zfa.1_Silent_p.T212T|THEMIS_uc010kfb.3_Silent_p.T177T	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	212	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GAAATGGATTCGTTGAGTCCC	0.353000														40			9		0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53645303	53645303	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:53645303G>A	uc002qbc.2	-	4	1208	c.781C>T	c.(781-783)Cct>Tct	p.P261S	ZNF347_uc002qbb.2_Missense_Mutation_p.P260S|ZNF347_uc010eql.2_Missense_Mutation_p.P261S	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GATTTGTAAGGGCTTCCCCAA	0.353000														103			23		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:20248603G>A	uc010tku.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(2)|p.P40T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000														401			59		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183810	197183810	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:197183810C>T	uc002utm.1	-	8	1987	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	HECW2_uc002utl.1_Missense_Mutation_p.D246N	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	602					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAGCCCTGATCGAGAGACTCG	0.587000														25			7		0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43418303	43418303	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:43418303G>A	uc001mxi.3	+	5	778	c.708G>A	c.(706-708)tgG>tgA	p.W236*	TTC17_uc001mxh.3_Nonsense_Mutation_p.W236*|TTC17_uc010rfj.2_Nonsense_Mutation_p.W179*|TTC17_uc001mxj.3_Nonsense_Mutation_p.W6*	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	236							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CATTTTACTGGAGAATTAAGA	0.388000														53			6		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34204861	34204861	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:34204861C>T	uc001bxm.1	-	14	2425	c.2248G>A	c.(2248-2250)Ggc>Agc	p.G750S	CSMD2_uc001bxn.1_Missense_Mutation_p.G710S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	710	Sushi 4.					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)				ATGGAGCTGCCCAGCTGGAGG	0.577000														56			19		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34763552	34763552	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:34763552C>T	uc002xfb.3	+	2	428	c.257C>T	c.(256-258)tCg>tTg	p.S86L	EPB41L1_uc002xeu.3_Missense_Mutation_p.S24L|EPB41L1_uc010zvo.1_Missense_Mutation_p.S86L|EPB41L1_uc002xev.3_Missense_Mutation_p.S86L|EPB41L1_uc002xew.3_Missense_Mutation_p.S24L|EPB41L1_uc002xex.3_Missense_Mutation_p.S55L|EPB41L1_uc002xey.3_Missense_Mutation_p.S86L|EPB41L1_uc002xez.3_Missense_Mutation_p.S24L	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	86					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCCCAGAAATCGCCCCAGAAG	0.567000														66			13		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012767	189012767	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:189012767C>T	uc011cle.1	-	7	1371	c.1149G>A	c.(1147-1149)ctG>ctA	p.L383L	TRIML2_uc003izj.1_Silent_p.L136L|TRIML2_uc003izk.1_Silent_p.L116L|TRIML2_uc003izl.2_Silent_p.L308L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	308							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGAGCCTTTTCAGAGGGGGGA	0.557000														189			45		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123095385	123095385	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:123095385C>T	uc001ucv.3	+	52	5723	c.5560C>T	c.(5560-5562)Ctg>Ttg	p.L1854L	KNTC1_uc010taf.2_Silent_p.L779L	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1854					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GTATCTCCTCCTGTCTCGTCC	0.333000														22			6		0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635335	122635335	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:122635335C>T	uc003vkl.1	-	0	420	c.354G>A	c.(352-354)ctG>ctA	p.L118L		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	118					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCTCCACCTCAGCCAGAGAA	0.393000														53			9		0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13526360	13526360	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:13526360C>T	uc001rbs.2	-	2	447	c.195G>A	c.(193-195)ggG>ggA	p.G65G						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		ATTCCTCATTCCCAAATCTGT	0.458000														38			7		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38530690	38530690	+	Missense_Mutation	SNP	C	T	T	rs111432615		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:38530690C>T	uc010ive.1	-	1	392	c.60G>A	c.(58-60)atG>atA	p.M20I	LIFR_uc003jli.2_Missense_Mutation_p.M20I	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	20					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAGCAGTCCTCATTCTTTTAT	0.388000			T	PLAG1	salivary adenoma									76			17		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18029019	18029019	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:18029019C>T	uc010gqw.1	+	15	3970	c.3970C>T	c.(3970-3972)Ccc>Tcc	p.P1324S	CECR2_uc010gqv.1_Missense_Mutation_p.P1184S|CECR2_uc002zml.2_Missense_Mutation_p.P1185S|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1368					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GACGGGGCCTCCCTATACCCC	0.607000														76			42		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19186080	19186080	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:19186080C>T	uc001bba.1	-	0	76	c.75G>A	c.(73-75)tcG>tcA	p.S25S		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	25					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)	GGTAGAAGTCCGAGTTCTCAG	0.582000														79			16		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160637469	160637469	+	Silent	SNP	A	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:160637469A>C	uc002ubb.4	-	35	5216	c.5142T>G	c.(5140-5142)gcT>gcG	p.A1714A	LY75-CD302_uc010fos.3_Silent_p.A1658A|LY75-CD302_uc002uba.3_Silent_p.A73A|LY75-CD302_uc021vrt.1_Silent_p.A36A|LY75-CD302_uc010zco.2_Silent_p.A73A	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1582					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CCAGTATAAAAGCATTTTCTT	0.348000														36			8		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901607	51901607	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:51901607G>A	uc002iua.2	+	0	1369	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	405	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.V404V(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAACCTGGTGGAAATAGGGAA	0.522000														53			12		0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2302895	2302895	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:2302895G>A	uc003slw.3	-	6	928	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	295					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGAGCAGCGCGAATTCCACAG	0.617000														42			27		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072780	17072780	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:17072780C>T	uc002zlp.1	-	0	921	c.661G>A	c.(661-663)Ggg>Agg	p.G221R		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	221					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATTGCTAACCCCGGGAGGAGG	0.597000														518			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634931	179634931	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179634931C>T	uc021vsy.1	-	35	8722	c.8497G>A	c.(8497-8499)Gaa>Aaa	p.E2833K	TTN_uc021vsz.1_Missense_Mutation_p.E2787K|TTN_uc021vta.1_Missense_Mutation_p.E2787K|TTN_uc021vtb.1_Missense_Mutation_p.E2787K|TTN_uc002unb.2_Missense_Mutation_p.E2833K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2833							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)			GGCTTAATTTCCACACTCTTA	0.458000														89			23		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502505	140502505	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140502505G>A	uc003lip.1	+	0	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTGGATTTCGAAAAAATTAA	0.358000														162			40		0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298246	75298246	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:75298246G>A	uc001owu.3	-	3	2365	c.2300C>T	c.(2299-2301)cCa>cTa	p.P767L		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	767	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GTCCTTTGCTGGTACTGGCAC	0.522000														108			34		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772720	4772720	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:4772720G>A	uc001alm.1	+	1	1171	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	AJAP1_uc001aln.3_Missense_Mutation_p.E264K	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	264					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAACAACGGGGAAGTCACCCA	0.607000														132			25		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348569	150348569	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:150348569G>A	uc010ntg.2	+	1	652	c.514G>A	c.(514-516)Gat>Aat	p.D172N	GPR50_uc011myc.2_Missense_Mutation_p.D172N	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	172					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)					CATCGAGTACGATCCTCGCAC	0.527000														49			37		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	436992	436992	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:436992G>A	uc003gaf.4	-	2	1586	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.R422C|ABCA11P_uc010ibe.3_Missense_Mutation_p.R410C	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		GCTCTGCCACGATCTTCACAT	0.378000														25			8		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193185208	193185208	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:193185208C>T	uc003ftd.3	-	9	1119	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	ATP13A4_uc003fte.1_Silent_p.Q337Q|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Silent_p.Q43Q	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	337					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCGCTTCACTCTGTGTTTTCC	0.502000														66			22		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79326149	79326149	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:79326149G>A	uc010mpk.3	-	7	1165	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	PRUNE2_uc022bih.1_Silent_p.L169L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	347					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCTTGACAACGAGAACCACCT	0.547000														24			17		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40113090	40113090	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:40113090G>A	uc002xka.1	-	14	2337	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	CHD6_uc002xkd.2_Missense_Mutation_p.S698F	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	720					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGTCAGGAAGGAAAAGTTCTT	0.473000														125			69		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13616869	13616869	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:13616869C>T	uc002mwy.3	-	0	406	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	CACNA1A_uc010xnd.2_Missense_Mutation_p.R57Q|CACNA1A_uc021ups.1_Missense_Mutation_p.R57Q|CACNA1A_uc010xne.2_Missense_Mutation_p.R57Q|CACNA1A_uc010dze.2_Missense_Mutation_p.R57Q|CACNA1A_uc021upt.1_Missense_Mutation_p.R57Q	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	57					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)	TGCCATGGTCCGCGCTCTCTG	0.642000														30			8		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921495	78921495	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:78921495C>T	uc002bed.1	-	4	1264	c.1152G>A	c.(1150-1152)ggG>ggA	p.G384G	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.G202G	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	384					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						ACATGGAGTTCCCATAGAAGT	0.647000														26			9		0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930313	45930313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:45930313G>A	uc003tnp.3	+	1	809	c.516G>A	c.(514-516)tgG>tgA	p.W172*		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	172						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TCAAAAAATGGAAGGTGAGGC	0.542000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		106			24		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782888	55782888	+	Missense_Mutation	SNP	G	A	A	rs34553661		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:55782888G>A	uc010qhy.1	-	19	2700	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	PCDH15_uc010qhq.2_Missense_Mutation_p.R769C|PCDH15_uc010qhr.2_Missense_Mutation_p.R764C|PCDH15_uc021pqv.1_Missense_Mutation_p.R764C|PCDH15_uc021pqw.1_Missense_Mutation_p.R776C|PCDH15_uc010qht.2_Missense_Mutation_p.R771C|PCDH15_uc021pqx.1_Missense_Mutation_p.R764C|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R764C|PCDH15_uc021pqz.1_Missense_Mutation_p.R742C|PCDH15_uc010qhv.1_Missense_Mutation_p.R764C|PCDH15_uc010qhw.1_Missense_Mutation_p.R727C|PCDH15_uc010qhx.1_Missense_Mutation_p.R693C|PCDH15_uc010qhz.1_Missense_Mutation_p.R764C|PCDH15_uc010qia.1_Missense_Mutation_p.R742C|PCDH15_uc001jju.1_Missense_Mutation_p.R764C|PCDH15_uc010qib.1_Missense_Mutation_p.R742C|PCDH15_uc001jjw.3_Missense_Mutation_p.R764C	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	764	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGTGATACGAAAAAGATTA	0.368000										HNSCC(58;0.16)				31			14		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510037	41510037	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:41510037C>T	uc002opr.1	+	1	310	c.303C>T	c.(301-303)atC>atT	p.I101I	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.I61I	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	101					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GGGGAAAAATCGCCATGGTCG	0.622000														88			20		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14834333	14834333	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:14834333C>T	uc001rcd.3	-	4	827	c.690G>A	c.(688-690)aaG>aaA	p.K230K	GUCY2C_uc009zhz.2_Silent_p.K230K	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	230					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCTGAAACTCCTTATCTTGTC	0.393000														44			11		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491447	103491447	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:103491447G>A	uc001dum.3	-	5	1160	c.842C>T	c.(841-843)tCc>tTc	p.S281F	COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	281	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAACTTTTTGGATTTTTCCTT	0.343000														62			17		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100341910	100341910	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:100341910C>T	uc003huv.2	-	5	882	c.641G>A	c.(640-642)gGa>gAa	p.G214E	ADH7_uc021xqj.1_Missense_Mutation_p.G222E	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	214					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CAGGCCAACTCCTCCCAGGCC	0.473000														38			14		0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100684190	100684190	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:100684190C>T	uc001dta.3	-	4	580	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	DBT_uc010oug.2_Missense_Mutation_p.E2K|DBT_uc021oqo.1_Missense_Mutation_p.E183K	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	183					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		ACATTGTTTTCCATTGCCAGA	0.393000														92			29		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75557314	75557314	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:75557314C>T	uc001jvj.3	+	17	3853	c.3598C>T	c.(3598-3600)Cgg>Tgg	p.R1200W	KIAA0913_uc001jve.3_Missense_Mutation_p.R1205W|KIAA0913_uc009xrl.3_Missense_Mutation_p.R1200W|KIAA0913_uc001jvf.3_Missense_Mutation_p.R1200W|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.R635W|KIAA0913_uc010qkr.2_Missense_Mutation_p.R623W|KIAA0913_uc009xrn.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1200	Ser-rich.						zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					TGGAAGTCGCCGGGCCAGTGC	0.637000														69			19		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6024114	6024114	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:6024114G>A	uc010qzv.2	-	0	265	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L89I(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAGGAAGAGAAGGCTGAGG	0.592000														42			16		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721061	70721061	+	Nonsense_Mutation	SNP	G	A	A	rs143726522	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:70721061G>A	uc003heo.3	-	2	342	c.229C>T	c.(229-231)Cga>Tga	p.R77*	SULT1E1_uc010ihv.1_Nonsense_Mutation_p.R77*	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	77					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	p.R77*(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AAAGGTATTCGATTAAAAATT	0.308000														31			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481277	179481277	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179481277C>T	uc021vsy.1	-	205	40762	c.40537G>A	c.(40537-40539)Gat>Aat	p.D13513N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D7208N|TTN_uc021vta.1_Missense_Mutation_p.D7141N|TTN_uc021vtb.1_Missense_Mutation_p.D7016N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14440	Ig-like 91.						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)			CCTCCATCATCATCAGGTGGT	0.433000														79			19		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240210	126240210	+	Missense_Mutation	SNP	A	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:126240210A>C	uc003ifj.4	+	0	2644	c.2644A>C	c.(2644-2646)Aca>Cca	p.T882P		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	882	Cadherin 8.				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						GGTTAACATAACAGTTAAGGA	0.453000														36			12		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88703833	88703833	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:88703833G>A	uc001kea.3	-	5	835	c.708C>T	c.(706-708)ttC>ttT	p.F236F	MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Silent_p.F193F	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	236						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCACTTGTAGGAAGGTGTCCA	0.547000														51			11		0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1459234	1459234	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:1459234G>A	uc002wfg.2	-	2	698	c.470C>T	c.(469-471)cCa>cTa	p.P157L	SIRPB2_uc002wfh.3_Missense_Mutation_p.P59L|SIRPB2_uc010zpr.1_Missense_Mutation_p.P19L	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	157	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCACAGGTCTGGTTCAGGGTC	0.557000														19			18		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47583536	47583536	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:47583536C>T	uc001cqu.1	+	11	1451	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	483						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCAAGGCCTCCCCAGCCTGTT	0.438000														32			15		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640787	99640787	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:99640787C>T	uc001yga.3	-	3	2653	c.2386G>A	c.(2386-2388)Gac>Aac	p.D796N	BCL11B_uc001ygb.3_Missense_Mutation_p.D725N	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	796						nucleus	zinc ion binding			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)		TCGCACGTGTCGCTGCGGCGG	0.731000			T	TLX3	T-ALL									16			5		0	0	1	0	0
TRAF4	9618	broad.mit.edu	37	17	27075074	27075074	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:27075074C>T	uc002hcs.3	+	3	448	c.340C>T	c.(340-342)Cct>Tct	p.P114S	TRAF4_uc002hcq.1_Missense_Mutation_p.P114S	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA.	114					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CATTCCCTGCCCTAATCGCTG	0.587000														70			13		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158811968	158811968	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:158811968C>T	uc001fsz.1	+	1	225	c.25C>T	c.(25-27)Ctt>Ttt	p.L9F		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	9	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.L9I(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAAGAAAATTCTTTTGCTGAA	0.308000														61			28		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920518	4920518	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:4920518C>T	uc001qng.3	+	0	2177	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	KCNA6_uc021qtr.1_Silent_p.I437I	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	437						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGGAAAGATCGTGGGCTCGC	0.592000										HNSCC(72;0.22)				69			18		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476817	120476817	+	Missense_Mutation	SNP	G	A	A	rs149989546	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:120476817G>A	uc004bjz.3	+	2	2702	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	TLR4_uc004bkb.3_Missense_Mutation_p.R604Q|TLR4_uc004bka.3_Missense_Mutation_p.R764Q	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	804	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTCCTGGGGCGGCACATCTTC	0.552000														72			71		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117846693	117846693	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:117846693G>A	uc004bjj.4	-	3	2338	c.1926C>T	c.(1924-1926)gcC>gcT	p.A642A	TNC_uc010mvf.3_Silent_p.A642A|TNC_uc022bmj.1_Silent_p.A642A	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	642	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATTGTCCCAGGCCAGGTTGA	0.557000														38			30		0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68696643	68696643	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:68696643G>A	uc001stz.2	-	11	1865	c.1729C>T	c.(1729-1731)Cgt>Tgt	p.R577C	MDM1_uc009zqv.1_Missense_Mutation_p.R297C|MDM1_uc010stc.1_Missense_Mutation_p.R542C	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	577						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GATACAGCACGACTTTCTTTC	0.333000														45			12		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119428076	119428076	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:119428076G>A	uc001ehl.1	-	7	1085	c.770C>T	c.(769-771)tCt>tTt	p.S257F	TBX15_uc009whj.1_Missense_Mutation_p.S81F	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	363						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TAAAAGATGAGAAGAAGCCGA	0.493000														11			5		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128178999	128178999	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:128178999G>A	uc002tol.3	+	2	301	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	PROC_uc002tok.3_Missense_Mutation_p.E71K|PROC_uc010yzi.2_Missense_Mutation_p.E92K|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Missense_Mutation_p.E92K	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	71					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GGAGGCCAAGGAAATTTTCCA	0.587000														39			16		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5745945	5745945	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:5745945C>T	uc002mda.3	+	8	740	c.679C>T	c.(679-681)Cac>Tac	p.H227Y	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	227						integral to membrane											GTACTCAGATCACCCCCTCAA	0.532000														201			65		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442600	138442600	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:138442600C>T	uc003ihe.4	-	3	3378	c.2991G>A	c.(2989-2991)ggG>ggA	p.G997G	PCDH18_uc003ihf.4_Silent_p.G989G|PCDH18_uc011cgz.2_Silent_p.G208G|PCDH18_uc003ihg.4_Silent_p.G776G|PCDH18_uc011cha.2_Silent_p.G177G	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	997	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G997W(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCTGGTATCCCCAGTGTCCT	0.507000														66			15		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10317785	10317785	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10317785G>A	uc002gmm.2	-	9	917	c.822C>T	c.(820-822)tcC>tcT	p.S274S	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	274	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AAGTAACTCTGGACTTTTCTA	0.348000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					14			4		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100200287	100200287	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:100200287C>T	uc001tge.2	-	3	981	c.564G>A	c.(562-564)atG>atA	p.M188I	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.M188I	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	188						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGTTGCAGCTCATTAAGTTAG	0.512000														37			8		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165956887	165956887	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:165956887G>A	uc002ucx.3	-	21	4383	c.3891C>T	c.(3889-3891)ctC>ctT	p.L1297L	SCN3A_uc002ucy.3_Silent_p.L1248L|SCN3A_uc002ucz.3_Silent_p.L1248L|SCN3A_uc002uda.1_Silent_p.L1117L|SCN3A_uc002udb.1_Silent_p.L1117L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1297						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGATGGCACCGAGTTCTGAGT	0.388000														26			9		0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24665156	24665156	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:24665156G>A	uc004dbi.3	-	0	300	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	PCYT1B_uc004dbk.4_Missense_Mutation_p.P23S|PCYT1B_uc004dbj.3_Intron	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	23						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GTTTCTGAGGGAGGCTCATTG	0.483000														26			26		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324037	152324037	+	Silent	SNP	C	T	T	rs147749931	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152324037C>T	uc001ezw.4	-	2	6298	c.6225G>A	c.(6223-6225)caG>caA	p.Q2075Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2075							calcium ion binding|structural molecule activity	p.Q2075*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATCTCCTGTCTGTCCATGAG	0.527000														426			403		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061664	9061664	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9061664G>A	uc002mkp.3	-	2	25986	c.25782C>T	c.(25780-25782)ctC>ctT	p.L8594L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8596	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						GGCCAAGGGTGAGAAGTGCAG	0.488000														58			18		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41033174	41033174	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:41033174G>A	uc003jmj.4	-	22	2820	c.2330C>T	c.(2329-2331)tCc>tTc	p.S777F	HEATR7B2_uc003jmi.4_Missense_Mutation_p.S332F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	777							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						CTCCTTGTAGGAAAACTGGAA	0.448000														30			6		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43772124	43772124	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:43772124G>A	uc002owd.4	-	1	341	c.242C>T	c.(241-243)tCg>tTg	p.S81L	PSG9_uc002owe.4_Missense_Mutation_p.S81L|PSG9_uc010xwm.2_Missense_Mutation_p.S81L|PSG9_uc002owf.4_Missense_Mutation_p.S81L|PSG9_uc002owg.2_Missense_Mutation_p.S81L	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	81	Ig-like V-type.				female pregnancy	extracellular region		p.S81S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AACTATATACGATATAATGTA	0.428000														184			62		0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33361035	33361035	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:33361035C>T	uc001mul.1	+	5	1838	c.1568C>T	c.(1567-1569)cCt>cTt	p.P523L	HIPK3_uc001mum.1_Missense_Mutation_p.P523L|HIPK3_uc009yjv.1_Missense_Mutation_p.P523L	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	523	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CTGAACCATCCTTTTGTTAAT	0.333000														101			38		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129868614	129868614	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:129868614G>A	uc009yat.3	+	14	1643	c.1226G>A	c.(1225-1227)gGg>gAg	p.G409E	PTPRE_uc001lkb.3_Missense_Mutation_p.G398E|PTPRE_uc009yau.2_Missense_Mutation_p.G398E|PTPRE_uc001lkd.3_Missense_Mutation_p.G340E|PTPRE_uc010quq.1_Missense_Mutation_p.G299E	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	398					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TACCTCTACGGGGACACAGAG	0.592000														46			15		0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5610023	5610023	+	Missense_Mutation	SNP	A	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:5610023A>C	uc002mcd.3	-	8	1491	c.1279T>G	c.(1279-1281)Ttc>Gtc	p.F427V		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	427	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TACTTGCTGAAAAGGTTCTTG	0.557000														25			8		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24793396	24793396	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:24793396G>A	uc001wow.3	-	15	2337	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	ADCY4_uc010toh.2_Silent_p.L326L|ADCY4_uc001wox.3_Silent_p.L640L|ADCY4_uc001woy.3_Silent_p.L640L	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	640					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGGCCTTTCAGGACACACCTC	0.627000														59			15		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11468727	11468727	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:11468727G>A	uc021zzo.1	-	13	3342	c.3090C>T	c.(3088-3090)atC>atT	p.I1030I	THSD7A_uc021zzn.1_Silent_p.I1030I	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1030	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGGGGCAGGGGATGATGCAGG	0.532000										HNSCC(18;0.044)				98			53		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179226415	179226415	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179226415C>T	uc002uly.3	+	13	1779	c.1235C>T	c.(1234-1236)tCt>tTt	p.S412F	OSBPL6_uc002ulw.3_Missense_Mutation_p.S356F|OSBPL6_uc002ulx.3_Missense_Mutation_p.S387F|OSBPL6_uc010zfe.2_Missense_Mutation_p.S356F|OSBPL6_uc002ulz.3_Missense_Mutation_p.S387F|OSBPL6_uc002uma.3_Missense_Mutation_p.S391F	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	387					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCAGTGCATTCTCTTTTGAAG	0.413000														58			23		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	154997067	154997067	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:154997067G>A	uc001fgm.3	-	10	1703	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	541						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	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)			TGTACAGGTAGGAGATCCTCT	0.592000														60			13		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526119	150526119	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:150526119G>A	uc009wlw.3	+	4	810	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	ADAMTSL4_uc001euw.3_Missense_Mutation_p.E218K|ADAMTSL4_uc001eux.3_Missense_Mutation_p.E218K|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.E218K	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	218					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCTCCCACAGAACTGTCTGT	0.602000														166			25		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390825	100390825	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:100390825C>T	uc003pqh.1	-	4	902	c.587_splice	c.e4+1	p.W196_splice	MCHR2_uc003pqi.1_Splice_Site_p.W196_splice	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	196						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACAACTTACCAGAGTACATC	0.408000														59			16		0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160523701	160523701	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:160523701G>A	uc001fwh.4	-	2	703	c.624C>T	c.(622-624)gcC>gcT	p.A208A	CD84_uc001fwf.4_Silent_p.A208A|CD84_uc009wtn.3_Silent_p.A208A|CD84_uc001fwi.4_Silent_p.A94A|CD84_uc001fwg.4_Silent_p.A208A|CD84_uc001fwj.3_Silent_p.A208A|CD84_uc001fwk.3_Silent_p.A208A	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	208					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGAGCTGCCGGGCAGAGATGG	0.532000														32			29		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881490	18881490	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:18881490C>T	uc002guw.3	-	4	1656	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	497	Pro-rich.									central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGCTCAGGGTCCCCCTGGGGG	0.692000														56			22		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585144	43585144	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:43585144G>A	uc002ovr.3	-	1	491	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	107	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGGATCAGCAGGGATGCATTG	0.443000														221			72		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	651188	651188	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:651188G>A	uc003gap.3	+	9	1359	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	PDE6B_uc003gao.4_Missense_Mutation_p.D436N|PDE6B_uc011buy.2_Missense_Mutation_p.D157N|BC020343_uc003gaq.1_5'Flank	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	436					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGACACCTACGACAAGATGAA	0.607000														43			23		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51020867	51020867	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51020867C>T	uc002pss.3	-	2	2240	c.2103G>A	c.(2101-2103)aaG>aaA	p.K701K	ASPDH_uc002psr.4_5'Flank	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	701						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)		TGGAGCCGCTCTTGAAGAGCA	0.716000														37			15		0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247152	142247152	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142247152C>T	uc003vyd.4	-	1	329	c.304G>A	c.(304-306)Gag>Aag	p.E102K	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TCCCCCCGCTCTGTGCGCTGG	0.577000														45			12		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106067995	106067995	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:106067995G>A	uc001yrw.1	-	1	125	c.113C>T	c.(112-114)tCc>tTc	p.S38F	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_5'UTR|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		CAGAGTCACGGAGGTGGCATT	0.612000														37			10		0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88248168	88248168	+	Missense_Mutation	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:88248168A>G	uc011lte.2	-	12	1527	c.1460T>C	c.(1459-1461)gTt>gCt	p.V487A	AGTPBP1_uc004aod.4_Missense_Mutation_p.V101A|AGTPBP1_uc011ltc.2_Missense_Mutation_p.V373A|AGTPBP1_uc011ltd.2_Missense_Mutation_p.V475A|AGTPBP1_uc010mqc.3_Missense_Mutation_p.V435A	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	475					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTTCATTACAACTTTTCTTAA	0.368000														35			22		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6933591	6933591	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:6933591G>A	uc001qqw.1	+	1	1062	c.527G>A	c.(526-528)gGc>gAc	p.G176D	GPR162_uc010sfn.1_Missense_Mutation_p.G176D|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	176						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCCAAGATCGGCCTCGGCTTT	0.582000														65			23		0	0	1	0	0
RPL12	6136	broad.mit.edu	37	9	130210242	130210242	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:130210242C>T	uc004bqy.2	-	5	521	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	RPL12_uc004bqz.2_Missense_Mutation_p.A103T	NM_000976	NP_000967	P30050	RL12_HUMAN	Homo sapiens ribosomal protein L12 (RPL12), mRNA.	136					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						ACTGACTGGGCAGTCCCCAGG	0.493000														50			17		0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777236	123777236	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:123777236G>A	uc010saa.2	+	0	98	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTCTTCTTAGGAATTTACACA	0.423000														60			20		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011799	34011799	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:34011799C>T	uc001bxm.1	-	56	9115	c.8938G>A	c.(8938-8940)Ggt>Agt	p.G2980S	CSMD2_uc001bxn.1_Missense_Mutation_p.G2836S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2953	Sushi 22.					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)				CCAGGGTCACCGCAAACTCCC	0.562000														20			11		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759080	55759080	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:55759080G>A	uc010spk.2	+	0	186	c.186G>A	c.(184-186)cgG>cgA	p.R62R		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TCTTCCTTCGGAACTTCTCAT	0.433000														113			32		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117146260	117146260	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:117146260G>A	uc001egq.1	-	6	2375	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	IGSF3_uc001egr.1_Missense_Mutation_p.S537F|IGSF3_uc001egs.1_Missense_Mutation_p.S210F	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	537	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCTGTGATGGAGATGGGAGT	0.577000														51			12		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654205	46654205	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:46654205C>T	uc003bhh.3	-	0	5015	c.5015G>A	c.(5014-5016)aGg>aAg	p.R1672K		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1672					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTCATGTATCCTCTGCATTTC	0.403000														51			50		0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129946681	129946681	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:129946681G>A	uc003vpr.3	+	6	693	c.646G>A	c.(646-648)Gat>Aat	p.D216N	CPA4_uc011kpd.2_Missense_Mutation_p.D183N|CPA4_uc011kpe.2_Missense_Mutation_p.D112N	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	216					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GGAGAAAATGGATATTTTCTT	0.448000														90			5		0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124620743	124620744	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:124620743_124620744GG>AA	uc001qas.3	-	2	369_370	c.293_294CC>TT	c.(292-294)ccc>cTT	p.P98L	VSIG2_uc001qat.3_Missense_Mutation_p.P98L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	98	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		CCACTGTGGGGGGGTTCTGAAG	0.530000														34			12		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552450	21552450	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:21552450C>T	uc003cce.3	-	3	750	c.342G>A	c.(340-342)atG>atA	p.M114I	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	114						nucleus	nucleic acid binding|zinc ion binding	p.M114I(2)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCTTATTTTTCATGGCTTCCA	0.463000														79			14		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062946	194062946	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:194062946C>T	uc003fts.3	-	1	576	c.486G>A	c.(484-486)agG>agA	p.R162R	CPN2_uc021xix.1_Silent_p.R162R	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	162					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)		GGAAGAGCCTCCTGGGCAGGG	0.642000														50			21		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679555	160679555	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:160679555C>T	uc003qtf.3	-	0	409	c.235G>A	c.(235-237)Gga>Aga	p.G79R	SLC22A2_uc003qth.2_Missense_Mutation_p.G79R	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	79					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CCCGCAGGTCCTGGGCCCGGC	0.682000														48			23		0	0	1	0	0
MMD2	221938	broad.mit.edu	37	7	4949592	4949592	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:4949592G>A	uc003sno.4	-	5	725	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F	MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.4_Intron|MMD2_uc010ksq.3_Intron	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.	177						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CTGGCAGGAAGACAAGCCGTG	0.577000														67			13		0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282240	23282240	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:23282240G>A	uc001wgr.4	-	1	506	c.368C>T	c.(367-369)tCc>tTc	p.S123F	SLC7A7_uc001wgs.4_Missense_Mutation_p.S123F|SLC7A7_uc001wgt.4_Missense_Mutation_p.S123F|SLC7A7_uc001wgu.4_Missense_Mutation_p.S123F|SLC7A7_uc001wgv.4_Missense_Mutation_p.S123F	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	123					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GATGAGCAGGGAGGTCCAGAG	0.537000														106			37		0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795099	30795099	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:30795099G>A	uc003tbs.1	+	2	440	c.424G>A	c.(424-426)Gat>Aat	p.D142N	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.D141N	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	142	S-adenosyl-L-methionine binding.					cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GCTCAAGTGCGATGTCCACCT	0.657000														44			18		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003217	52003217	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:52003217C>T	uc002pwx.1	-	1	821	c.765G>A	c.(763-765)agG>agA	p.R255R	SIGLEC12_uc002pww.1_Silent_p.R137R|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.	255	Ig-like V-type 2.				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)		AGTTCCATTTCCTGCTTCCTC	0.552000														51			15		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105798285	105798285	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:105798285C>T	uc001kxr.3	-	45	3117	c.2948_splice	c.e45-1	p.G983_splice		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	983	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGATGATCCCCCTGCAGCAA	0.612000														116			25		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24522949	24522949	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:24522949C>T	uc002rfe.2	-	11	1431	c.1173G>A	c.(1171-1173)agG>agA	p.R391R	ITSN2_uc002rff.2_Silent_p.R391R|ITSN2_uc002rfg.3_Silent_p.R391R|ITSN2_uc010eyd.2_Silent_p.R416R	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	391					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCTGCCTCCCTTTGTTGCT	0.438000														145			41		0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970656	45970656	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:45970656G>A	uc002zfi.1	-	0	733	c.686C>T	c.(685-687)tCc>tTc	p.S229F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	229						keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GGACACAGAGGAGGAGGGTCT	0.632000														155			28		0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146436	111146437	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:111146436_111146437GG>AA	uc021oro.1	-	0	968_969	c.968_969CC>TT	c.(967-969)gcc>gTT	p.A323V	KCNA2_uc009wfv.2_Intron|KCNA2_uc009wfw.3_Missense_Mutation_p.A323V	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	323						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CTCTCATGCTGGCTTTGAGGGT	0.490000														47			12		0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27366311	27366311	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:27366311G>A	uc009xku.1	-	8	1205	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	ANKRD26_uc001itg.2_Missense_Mutation_p.P64S|ANKRD26_uc001ith.2_Missense_Mutation_p.P345S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	345						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GAAGGTTTTGGAAGAAGGTCA	0.413000														106			45		0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620793	56620793	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:56620793G>A	uc002iwq.2	-	0	941	c.755C>T	c.(754-756)cCt>cTt	p.P252L	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	252								p.P252L(2)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGACCGTAAGGACCTGTTTC	0.478000														144			20		0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97772324	97772324	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:97772324G>A	uc010qop.2	+	4	388	c.156G>A	c.(154-156)caG>caA	p.Q52Q	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Silent_p.Q52Q	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	52										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AGAGAGCACAGATTTTTAAAA	0.313000														51			13		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120277	38120277	+	Missense_Mutation	SNP	C	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:38120277C>G	uc003atr.3	+	6	1985	c.1714C>G	c.(1714-1716)Cga>Gga	p.R572G	TRIOBP_uc003atu.3_Missense_Mutation_p.R400G|TRIOBP_uc003atq.1_Missense_Mutation_p.R572G|TRIOBP_uc003ats.1_Missense_Mutation_p.R400G	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	572					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)					TAGAGCCACACGAGACAACCC	0.587000														157			15		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107247	55107247	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:55107247C>T	uc002qgh.1	+	5	987	c.805C>T	c.(805-807)Cct>Tct	p.P269S	LILRA1_uc010yfg.1_Missense_Mutation_p.P267S|LILRA1_uc010yfh.2_Missense_Mutation_p.P269S	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	269	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	p.P269S(2)|p.L268I(1)		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)		CCTCCAGCTCCCTGGCCCACA	0.607000														95			36		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11733242	11733242	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:11733242C>T	uc002rbk.1	+	10	1986	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	GREB1_uc002rbo.1_Silent_p.I196I	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	562						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACTCCTGCATCGCCGTCACCG	0.642000														11			5		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120977966	120977966	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:120977966G>A	uc003eec.4	+	17	2049	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	STXBP5L_uc011bji.2_Missense_Mutation_p.E637K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	637					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)		GGTAGATGGTGAACCTCCACA	0.358000														32			11		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597596	36597596	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:36597596C>T	uc021qgb.1	+	0	2742	c.2742C>T	c.(2740-2742)ttC>ttT	p.F914F	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.F914F	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	914					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGTACAGTTTCAATTCACAGC	0.453000									Familial Hemophagocytic Lymphohistiocytosis					48			14		0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140058709	140058709	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140058709G>A	uc003lgv.3	-	4	482	c.400C>T	c.(400-402)Cct>Tct	p.P134S	HARS_uc003lgu.3_Missense_Mutation_p.P65S|HARS_uc011czm.2_Missense_Mutation_p.P94S|HARS_uc003lgw.3_Missense_Mutation_p.P134S|HARS_uc011czn.2_Missense_Mutation_p.P94S|HARS_uc011czo.2_Intron|HARS_uc011czp.2_Intron|HARS_uc011czq.2_Intron	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	134					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CGAGCAAAAGGAACCTGATGA	0.478000														94			22		0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18208424	18208424	+	Missense_Mutation	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:18208424A>G	uc003nco.1	+	9	1319	c.1244A>G	c.(1243-1245)tAt>tGt	p.Y415C	KDM1B_uc003ncn.1_Missense_Mutation_p.Y386C	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	618					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGCACAGGGTATTCTGCACAA	0.453000														82			16		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72947714	72947714	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:72947714G>A	uc002jmj.4	-	18	2467	c.2318C>T	c.(2317-2319)cCt>cTt	p.P773L	C17orf28_uc002jmi.3_Missense_Mutation_p.P175L|C17orf28_uc010wrs.2_Missense_Mutation_p.P572L	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	773						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					GTACCAGACAGGGGGGTCCAC	0.617000														11			3		0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95118854	95118855	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:95118854_95118855GG>AA	uc010afh.3	-	2	1080_1081	c.653_654CC>TT	c.(652-654)acc>aTT	p.T218I	DCT_uc001vlv.4_Missense_Mutation_p.T218I	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	218					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ACCGGTGCCAGGTAACAAATGC	0.371000														38			9		0	0	1	0	0
AQP12A	375318	broad.mit.edu	37	2	241631351	241631351	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:241631351C>T	uc002vzu.3	+	0	90	c.21C>T	c.(19-21)tcC>tcT	p.S7S	AQP12A_uc002vzv.3_Intron	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	7						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TTAACGTGTCCCTCTCCTTCT	0.667000														87			16		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85992449	85992449	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:85992449C>T	uc001kcz.1	-	3	1128	c.1106G>A	c.(1105-1107)gGg>gAg	p.G369E		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	369						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGCAGCTTCCCCTCCGCCACC	0.582000														20			3		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154321393	154321393	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:154321393C>T	uc001fex.3	+	27	3471	c.3471C>T	c.(3469-3471)tcC>tcT	p.S1157S		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	1143					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCACTGGCTCCCGGCGCTCCG	0.642000														50			6		0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146030294	146030294	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:146030294C>T	uc003ijx.3	+	4	738	c.298C>T	c.(298-300)Cct>Tct	p.P100S	ABCE1_uc003ijy.3_Missense_Mutation_p.P100S|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	100	ABC transporter 1.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GTTGCCTATCCCTCGTCCAGG	0.343000														79			18		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23517517	23517517	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:23517517G>A	uc001wil.3	-	12	2392	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	CDH24_uc010akf.3_Missense_Mutation_p.P673L	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	711					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		gggcgccgggggggccgcccc	0.761000														81			20		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192733	34192733	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:34192733G>A	uc011kap.2	+	15	2280	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	636	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.Y635*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCTGTGTACGATACCTGTGG	0.507000														170			50		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43932918	43932918	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:43932918G>A	uc002xnn.2	-	2	780	c.593C>T	c.(592-594)tCc>tTc	p.S198F	MATN4_uc002xnp.2_Missense_Mutation_p.S198F|MATN4_uc002xno.2_Missense_Mutation_p.S198F|MATN4_uc010zwr.1_Missense_Mutation_p.S146F|MATN4_uc002xnr.1_Missense_Mutation_p.S198F|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	198	VWFA 1.					extracellular region	protein binding	p.S198P(1)|p.E197*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GAGGTCGAAGGACTCTACGAG	0.617000														72			17		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57006231	57006231	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:57006231C>T	uc003pdm.1	+	7	1058	c.834C>T	c.(832-834)ttC>ttT	p.F278F	ZNF451_uc003pdl.3_Silent_p.F278F|ZNF451_uc003pdn.1_Silent_p.F278F|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.F278F	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGAATCATTTCCATCAGAGTT	0.348000														15			10		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54915006	54915006	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:54915006G>A	uc001sgc.4	+	17	1941	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q	NCKAP1L_uc010sox.2_Missense_Mutation_p.R163Q|NCKAP1L_uc010soy.2_Missense_Mutation_p.R571Q	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	621					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						GCTGAGCAGCGAAACCTGAGC	0.552000														47			17		0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161047499	161047499	+	Silent	SNP	T	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:161047499T>G	uc001fxo.2	-	2	773	c.474A>C	c.(472-474)gcA>gcC	p.A158A	PVRL4_uc010pjz.1_5'Flank	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	158	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCTCTTCTAGTGCTGGACCAG	0.637000														58			31		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115384621	115384621	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:115384621G>A	uc001lal.3	-	21	2477	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F	NRAP_uc009xyb.3_Silent_p.F82F|NRAP_uc001laj.3_Silent_p.F771F|NRAP_uc001lak.3_Silent_p.F736F	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	771						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGGCCTGCAGGAAGAGAGGCT	0.532000														82			31		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156665	22156665	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:22156665G>A	uc021urr.1	-	3	1320	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTTTCTTA	0.378000														31			10		0	0	1	0	0
FAM212B	55924	broad.mit.edu	37	1	112270131	112270131	+	Missense_Mutation	SNP	G	A	A	rs145633487	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:112270131G>A	uc001ebo.2	-	1	535	c.353C>T	c.(352-354)cCc>cTc	p.P118L	FAM212B_uc001ebp.2_Missense_Mutation_p.P103L	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	Homo sapiens family with sequence similarity 212, member B (FAM212B), transcript variant 1, mRNA.	118										cervix(1)|endometrium(1)	2						CCTGGGCAAGGGGGCTAAATC	0.597000														61			17		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000														132			4		0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21094340	21094340	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:21094340G>A	uc002gyo.3	+	6	896	c.852G>A	c.(850-852)aaG>aaA	p.K284K		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA.	284						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GGAAGAAGAAGAAAGATGTGA	0.517000														139			41		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55955966	55955966	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:55955966G>A	uc003has.3	-	23	3498	c.3196C>T	c.(3196-3198)Cgc>Tgc	p.R1066C	KDR_uc003hat.1_Missense_Mutation_p.R1066C	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1066	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.A1065T(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAAGGGAGGCGAGCCTACAGG	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				98			25		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71007302	71007302	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:71007302C>T	uc001jpf.4	+	8	1351	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	HKDC1_uc010qje.2_Silent_p.L269L	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	406					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGGAACGGCTCCGGACCACAG	0.612000														49			15		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055301	72055301	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:72055301C>T	uc001xms.3	+	1	1073	c.712C>T	c.(712-714)Cca>Tca	p.P238S	SIPA1L1_uc001xmt.3_Missense_Mutation_p.P238S|SIPA1L1_uc001xmu.3_Missense_Mutation_p.P238S|SIPA1L1_uc001xmv.3_Missense_Mutation_p.P238S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	238					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGATCGAGGTCCAACTCCAAC	0.423000														77			24		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34022144	34022144	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:34022144C>T	uc010gfc.1	-	1	1310	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	GDF5OS_uc002xcj.3_Silent_p.L185L|GDF5_uc002xck.1_Missense_Mutation_p.E357K	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	357					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCCTTAATCTCATTAAAGAAC	0.632000														93			68		0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11526640	11526640	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:11526640C>T	uc002mro.2	-	4	674	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mrp.2_Missense_Mutation_p.E204K	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	204					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GGCTCCTCTTCCTGCTCTCGC	0.562000														267			62		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476338	42476338	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:42476338G>A	uc002igw.2	-	7	3326	c.3107C>T	c.(3106-3108)cCc>cTc	p.P1036L	GPATCH8_uc002igv.2_Missense_Mutation_p.P958L|GPATCH8_uc010wiz.2_Missense_Mutation_p.P958L	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1036						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAAATAGTGGGGGGACTGGGA	0.557000														55			15		0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219920173	219920173	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:219920173G>A	uc002vjo.2	-	2	1041	c.992C>T	c.(991-993)cCg>cTg	p.P331L		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	331					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.A330A(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTGTGAGCGGGGCGTAGGC	0.682000														45			10		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130413282	130413282	+	Silent	SNP	G	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:130413282G>T	uc004ewe.4	-	9	1963	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V	IGSF1_uc004ewd.3_Silent_p.V560V|IGSF1_uc022cdv.1_Silent_p.V551V|IGSF1_uc004ewf.2_Silent_p.V540V	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	560					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						AGAGCATGGTGACCCCTTGAG	0.617000														19			11		6.31663e-08	6.34782e-08	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22397561	22397561	+	Missense_Mutation	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:22397561T>C	uc001mqk.3	+	9	1621	c.1208T>C	c.(1207-1209)gTt>gCt	p.V403A		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	403					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTCCTGGTCGTTGGCTATTCT	0.378000														98			28		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122618232	122618232	+	Silent	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:122618232T>C	uc021pzt.1	+	2	522	c.276T>C	c.(274-276)aaT>aaC	p.N92N	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	92						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTGATGTCAATGGGAAGATCA	0.468000														27			12		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14871551	14871551	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:14871551C>T	uc003jfm.4	-	0	337	c.6G>A	c.(4-6)gtG>gtA	p.V2V		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	2					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CCGGGAATTTCACCATAGTCC	0.692000														29			9		0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779544	97779544	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:97779544C>T	uc010qop.2	+	8	975	c.743C>T	c.(742-744)cCa>cTa	p.P248L	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Missense_Mutation_p.P248L	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	248										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CAGTTGCTTCCAAAAAACGTT	0.323000														115			37		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921522	24921522	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:24921522G>A	uc001ywo.3	+	0	982	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	170					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)		GGTGCAGATCGAAGGGGAGGA	0.617000														29			11		0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88466448	88466448	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:88466448C>T	uc001kdv.3	+	6	1080	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S	LDB3_uc010qml.1_Intron|LDB3_uc010qmm.2_Intron|LDB3_uc009xsz.3_Intron|LDB3_uc001kdu.3_Intron	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	353						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CACCACAGCCCCTGCTTCAAG	0.672000														37			9		0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113786608	113786608	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:113786608C>T	uc002tiq.1	-	3	273	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	IL36B_uc002tir.1_Missense_Mutation_p.E57K	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	57					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TTACCCTTTTCCTTGTCACTG	0.418000														53			15		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47897422	47897422	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:47897422G>A	uc003tny.2	-	27	4405	c.4371C>T	c.(4369-4371)ctC>ctT	p.L1457L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1457	REJ.				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						GGTTCAAAGAGAGACAACCCT	0.463000														37			17		0	0	1	0	0
ZNF579	163033	broad.mit.edu	37	19	56090215	56090215	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:56090215G>A	uc002qlh.3	-	1	844	c.791C>T	c.(790-792)cCg>cTg	p.P264L	ZNF579_uc021vby.1_Missense_Mutation_p.P264L	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGGGCGTGGCGGGGGCCCCCC	0.716000														12			5		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68346316	68346316	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:68346316G>A	uc003xxq.4	-	8	1254	c.998C>T	c.(997-999)cCc>cTc	p.P333L	CPA6_uc003xxr.4_Intron	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	333					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.P333P(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GTAAGAATAGGGATACAGTAA	0.408000														78			27		0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50348049	50348049	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:50348049G>A	uc001rvn.3	+	1	562	c.472G>A	c.(472-474)Ggc>Agc	p.G158S		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	158					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						AGAGAACCCGGGCACCCCTGC	0.647000														20			10		0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40832611	40832611	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:40832611C>T	uc002iax.4	-	1	53	c.49G>A	c.(49-51)Gat>Aat	p.D17N	CNTNAP1_uc002iay.3_5'Flank|CNTNAP1_uc010wgs.2_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	Homo sapiens chemokine (C-C motif) receptor 10 (CCR10), mRNA.	17						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCCTCTTCATCCCCAGAGTAA	0.592000														56			15		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75799830	75799830	+	Silent	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:75799830T>C	uc021zbv.1	-	61	8972	c.8937A>G	c.(8935-8937)gaA>gaG	p.E2979E	COL12A1_uc021zbw.1_Silent_p.E1815E|COL12A1_uc003phs.3_Silent_p.E2979E|COL12A1_uc003pht.3_Silent_p.E1815E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2979	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCCTACCTCGTTCCCCAGGGG	0.592000														94			33		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101924127	101924127	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:101924127C>T	uc003uyt.3	+	19	1923	c.1796C>T	c.(1795-1797)cCc>cTc	p.P599L	CUX1_uc003uyw.3_Missense_Mutation_p.P553L|CUX1_uc003uyv.3_Missense_Mutation_p.P583L|CUX1_uc003uyu.3_Missense_Mutation_p.P597L|CUX1_uc011kkn.2_Missense_Mutation_p.P560L	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	186					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCTTGAGTCCCTGGGACAAG	0.642000														42			11		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534013	55534013	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:55534013G>A	uc003xsd.1	+	1	635	c.487G>A	c.(487-489)Gac>Aac	p.D163N	RP1_uc011ldy.1_Missense_Mutation_p.D163N	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	163	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G162G(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGGAATGGCGACCCGAAGAC	0.662000														109			41		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056697	120056697	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:120056697C>T	uc001ehv.1	+	3	696	c.551C>T	c.(550-552)gCc>gTc	p.A184V		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	184					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TACACTTGTGCCTTACGACCC	0.512000														83			20		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49669382	49669382	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:49669382C>T	uc002pmw.3	+	2	285	c.177C>T	c.(175-177)acC>acT	p.T59T	TRPM4_uc010emu.3_Silent_p.T59T|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Intron|TRPM4_uc010emv.3_Silent_p.T59T|TRPM4_uc010yal.2_Intron	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	59					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCGTGGTGACCGTGTGGGACA	0.701000														22			5		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20896278	20896278	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:20896278C>T	uc010sii.2	+	13	2128	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	SLCO1C1_uc010sij.2_Silent_p.I542I|SLCO1C1_uc009zip.3_Silent_p.I425I|SLCO1C1_uc001rei.3_Silent_p.I591I|SLCO1C1_uc010sik.2_Silent_p.I473I	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	591					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCTTGGGTATCTACACATTAG	0.299000														106			21		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55549782	55549782	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:55549782C>T	uc002ryv.2	-	17	3883	c.3041G>A	c.(3040-3042)aGg>aAg	p.R1014K	CCDC88A_uc010ypa.1_Missense_Mutation_p.R1014K|CCDC88A_uc010yoz.1_Missense_Mutation_p.R1015K|CCDC88A_uc002ryu.2_Missense_Mutation_p.R297K|CCDC88A_uc002rys.3_5'UTR|CCDC88A_uc002ryw.3_Missense_Mutation_p.R298K|CCDC88A_uc010fby.1_Intron	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1015					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CTGTACCATCCTTTCCTCATC	0.343000														52			15		0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	624595	624595	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:624595C>T	uc001lql.3	-	1	490	c.223G>A	c.(223-225)Gga>Aga	p.G75R	CDHR5_uc001lqj.3_Missense_Mutation_p.G75R|CDHR5_uc009ycd.3_Missense_Mutation_p.G75R|CDHR5_uc001lqk.3_Missense_Mutation_p.G75R|CDHR5_uc009ycc.3_5'UTR|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.G75R|CDHR5_uc001lqn.1_Missense_Mutation_p.G75R	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	75	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						AGCTGGTTTCCCTGGATCCGA	0.627000														70			16		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72961922	72961922	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:72961922C>T	uc001xna.4	+	12	1440	c.917C>T	c.(916-918)tCc>tTc	p.S306F	RGS6_uc021rvv.1_Missense_Mutation_p.S271F|RGS6_uc010ttn.2_Missense_Mutation_p.S306F|RGS6_uc021rvw.1_Missense_Mutation_p.S306F|RGS6_uc021rvx.1_Missense_Mutation_p.S306F|RGS6_uc021rvy.1_Intron|RGS6_uc021rvz.1_Intron|RGS6_uc001xmy.4_Missense_Mutation_p.S306F|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.S306F|RGS6_uc021rwa.1_Intron|RGS6_uc021rwb.1_Intron|RGS6_uc010ttp.1_Missense_Mutation_p.S237F|RGS6_uc021rwc.1_Missense_Mutation_p.S167F	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	306	G protein gamma.				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|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GCTGAGCCATCCAACCCTTGG	0.433000														78			16		0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200386	123200386	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:123200386G>A	uc001ucy.4	-	0	1054	c.899C>T	c.(898-900)tCc>tTc	p.S300F	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	300						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GTTGGGAAAGGATGGGCTGGA	0.537000														24			8		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884315	63884315	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:63884315C>T	uc021qks.1	+	0	576	c.576C>T	c.(574-576)atC>atT	p.I192I	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.I192I	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	164					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						TGAGCAGCATCCCCTCGGGGC	0.632000														28			8		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107511	107511	+	RNA	SNP	A	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrGL000211.1:107511A>T	uc003boa.3	+	4		c.1051A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AATGCAAATTATTTTGAAATA	0.279000														15			3		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80620361	80620361	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:80620361C>T	uc010ysh.2	+	6	1087	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	CTNNA2_uc010yse.2_Missense_Mutation_p.P361L|CTNNA2_uc010ysf.2_Missense_Mutation_p.P361L|CTNNA2_uc010ysg.2_Missense_Mutation_p.P361L|CTNNA2_uc010ysi.2_5'UTR	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	361					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAAGGAGATCCTCTCAACATT	0.289000														60			11		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103681	53103681	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:53103681C>T	uc003tpz.3	+	0	333	c.317C>T	c.(316-318)aCc>aTc	p.T106I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	106								p.T106N(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCGGGGAGACCGCTCTGGGG	0.711000														34			18		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874674	36874674	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:36874674G>A	uc003cgj.3	-	20	6516	c.6268C>T	c.(6268-6270)Cct>Tct	p.P2090S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2090					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATGGGCCCAGGGTCATTCTGA	0.378000														18			8		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134073741	134073741	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:134073741C>T	uc004cag.3	+	28	4971	c.4860C>T	c.(4858-4860)acC>acT	p.T1620T	NUP214_uc004cah.3_Silent_p.T1610T|NUP214_uc004cai.3_Silent_p.T1050T|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Silent_p.T446T|NUP214_uc011mcf.1_Silent_p.T397T|NUP214_uc010mzh.1_Silent_p.T134T|NUP214_uc010mzi.1_Silent_p.T134T	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1620	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCTCCAGCACCACGTCCATTG	0.577000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									79			55		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1896357	1896357	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:1896357G>A	uc001aim.1	-	12	1701	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	KIAA1751_uc009vkz.1_Silent_p.F515F	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	515										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GTTTGCTGTTGAAGGGGCGTC	0.672000														28			5		0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27762916	27762916	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:27762916C>T	uc003cdy.3	-	0	870	c.870G>A	c.(868-870)acG>acA	p.T290T	EOMES_uc003cdx.3_Silent_p.T290T|EOMES_uc010hfn.2_Silent_p.T290T|EOMES_uc011axc.1_Intron	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	290					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TGCCCTGTTTCGTAATGATCA	0.617000														20			9		0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74670390	74670390	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:74670390G>A	uc002fda.3	-	7	1378	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	RFWD3_uc010cgq.3_Missense_Mutation_p.S427F	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA.	427					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCCCTGGCTGGAGGGTGAGCA	0.498000														32			11		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53028865	53028865	+	Silent	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:53028865T>C	uc003xqz.2	-	19	3129	c.2973A>G	c.(2971-2973)tcA>tcG	p.S991S	ST18_uc011ldq.1_Silent_p.S638S|ST18_uc011ldr.1_Silent_p.S956S|ST18_uc011lds.1_Silent_p.S896S|ST18_uc003xra.2_Silent_p.S991S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	991						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAGCAAGGCTTGAAATGAGAG	0.458000														75			30		0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7318372	7318372	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:7318372G>A	uc002ggt.1	+	4	1015	c.942G>A	c.(940-942)aaG>aaA	p.K314K		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	314					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TGGCAGCCAAGGTGGGCTGTG	0.652000														62			17		0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063411	76063411	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:76063411G>A	uc001oxh.1	-	4	783	c.783C>T	c.(781-783)tcC>tcT	p.S261S	PRKRIR_uc021qnn.1_Silent_p.S86S|PRKRIR_uc010rrz.1_Silent_p.S86S	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	261					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						CAGTGATAATGGAAAAGAAGT	0.428000														48			23		0	0	1	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762256	37762256	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:37762256G>A	uc002hry.3	-	1	797	c.597C>T	c.(595-597)ccC>ccT	p.P199P	NEUROD2_uc021tws.1_Silent_p.P199P	NM_006160	NP_006151	Q15784	NDF2_HUMAN	Homo sapiens neurogenic differentiation 2 (NEUROD2), mRNA.	199					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			GATTGGTGGTGGGCTGCGACA	0.652000														27			8		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130331474	130331474	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:130331474G>A	uc010scd.2	+	1	1048	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	350	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGTCATTGAGGACGATGGGCT	0.612000														32			14		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603982	140603982	+	Missense_Mutation	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140603982A>G	uc003ljb.3	+	0	905	c.905A>G	c.(904-906)aAt>aGt	p.N302S		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	302	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.V301F(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGAAGTTAATTTGAGATCA	0.363000														57			13		0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197495333	197495333	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:197495333C>T	uc003fyi.2	+	2	478	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	FYTTD1_uc011bui.1_Missense_Mutation_p.R61C|FYTTD1_uc011buj.1_Non-coding_Transcript|FYTTD1_uc011buk.1_Missense_Mutation_p.R20C	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.	87			R -> H (in dbSNP:rs3205525).		mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		TAGTCTGAATCGTAGAGGAAG	0.403000														47			18		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784272	151784272	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:151784272G>A	uc003luv.2	-	0	569	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	135					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GTGATGCTGAGGATGGAGGCG	0.632000														77			29		0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145620234	145620234	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:145620234C>T	uc003zcj.3	-	29	3352	c.3277G>A	c.(3277-3279)Gag>Aag	p.E1093K	MIR939_uc022bcn.1_5'Flank	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1093					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCCTGCAGCTCGATCCTGTGG	0.672000														75			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408960	179408960	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179408960G>A	uc021vsy.1	-	293	88517	c.88292C>T	c.(88291-88293)tCa>tTa	p.S29431L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S23126L|TTN_uc021vta.1_Missense_Mutation_p.S23059L|TTN_uc021vtb.1_Missense_Mutation_p.S22934L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30358	Fibronectin type-III 114.						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)			TTCAGCAATTGATTCGCTGTA	0.383000														40			14		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10725488	10725488	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:10725488G>A	uc001aro.3	-	4	477	c.157C>T	c.(157-159)Cac>Tac	p.H53Y	CASZ1_uc001arp.1_Missense_Mutation_p.H53Y|CASZ1_uc009vmx.2_Missense_Mutation_p.H77Y	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCTCCGTGTGGGAGCCGGCG	0.706000														53			6		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588185	247588185	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:247588185G>A	uc001icr.3	+	4	1578	c.1440G>A	c.(1438-1440)caG>caA	p.Q480Q	NLRP3_uc001ics.3_Silent_p.Q480Q|NLRP3_uc001icu.3_Silent_p.Q480Q|NLRP3_uc001icw.3_Silent_p.Q480Q|NLRP3_uc001icv.3_Silent_p.Q480Q|NLRP3_uc010pyw.2_Silent_p.Q478Q|NLRP3_uc001ict.1_Silent_p.Q478Q	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	480	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCTGGAACCAGAAAATCCTGT	0.567000														36			26		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847429	94847429	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:94847429G>A	uc001ycy.4	-	4	1250	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.F232F|SERPINA1_uc010auy.3_Silent_p.F232F|SERPINA1_uc001ycz.4_Silent_p.F232F|SERPINA1_uc010auz.3_Silent_p.F232F|SERPINA1_uc010ava.3_Silent_p.F232F|SERPINA1_uc001ydb.4_Silent_p.F232F|SERPINA1_uc010avb.3_Silent_p.F232F|SERPINA1_uc001ydc.4_Silent_p.F232F|SERPINA1_uc010auw.3_Silent_p.F232F|SERPINA1_uc010aux.3_Silent_p.F232F|SERPINA1_uc001yda.1_Silent_p.F232F	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	232					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GGTCCACGTGGAAGTCCTCTT	0.542000														28			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106963063	106963063	+	RNA	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:106963063G>A	uc021ser.1	-	268		c.10667C>T								Parts of antibodies, mostly variable regions.																		TGTTACCATTGAAAGGTGTGA	0.552000														111			27		0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167591975	167591975	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:167591975C>T	uc010kkp.3	+	4	733	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	201										endometrium(1)|kidney(2)|lung(3)	6						AGTCCAGCACCCACTGGAAGG	0.517000														75			7		0	0	1	0	0
RAB11B	9230	broad.mit.edu	37	19	8467411	8467411	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:8467411C>T	uc002mju.4	+	3	569	c.473C>T	c.(472-474)tCc>tTc	p.S158F	RAB11B_uc021uof.1_5'Flank	NM_004218	NP_004209	Q15907	RB11B_HUMAN	Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA.	158					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						GCCTTGGATTCCACTAACGTA	0.557000														52			17		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942930	12942930	+	Missense_Mutation	SNP	G	A	A	rs76269416		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:12942930G>A	uc001aun.2	-	1	357	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	96										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		CACCTGGGACGAACCCCTAGG	0.622000														53			10		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73558935	73558935	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:73558935C>T	uc001jrx.4	+	48	7503	c.7113C>T	c.(7111-7113)gcC>gcT	p.A2371A	CDH23_uc001jsg.4_Silent_p.A134A|CDH23_uc001jsh.4_Silent_p.A134A|CDH23_uc001jsi.4_Silent_p.A134A	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2374	Cadherin 22.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGTGAGGGCCTCAGACAACG	0.577000														49			15		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175089	133175089	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:133175089C>T	uc002ttl.3	+	0	943	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	158						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATTGGCTTCGTCTGGGTCA	0.602000														32			13		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058007	152058007	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152058007C>T	uc001ezo.1	-	2	2216	c.2151G>A	c.(2149-2151)caG>caA	p.Q717Q		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	717							calcium ion binding	p.Q717L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACAGAGTATTCTGGGCCTCTG	0.438000														188			40		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531996	50531996	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:50531996C>T	uc021pqb.1	+	0	1406	c.1406C>T	c.(1405-1407)cCa>cTa	p.P469L	C10orf71_uc021pqa.1_Missense_Mutation_p.P468L|C10orf71_uc021pqc.1_Missense_Mutation_p.P469L	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	469										endometrium(1)	1						GAGCGAACCCCATCACCCCCA	0.547000														47			8		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53073941	53073941	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:53073941G>A	uc003xqz.2	-	8	1744	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S	ST18_uc011ldq.1_Missense_Mutation_p.P177S|ST18_uc011ldr.1_Missense_Mutation_p.P495S|ST18_uc011lds.1_Missense_Mutation_p.P435S|ST18_uc003xra.2_Missense_Mutation_p.P530S|ST18_uc003xrb.2_Missense_Mutation_p.P530S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	530						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTACATTCAGGAAATGGTGGT	0.433000														81			36		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468778	56468778	+	Silent	SNP	T	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:56468778T>A	uc021wzo.1	-	0	398	c.258A>T	c.(256-258)acA>acT	p.T86T	ERC2_uc003dhr.1_Silent_p.T86T	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	86						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)		CAGCTCGATTTGTAGCCCTTC	0.502000														117			36		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155447901	155447901	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:155447901G>A	uc009wqq.3	-	2	5240	c.4760C>T	c.(4759-4761)tCc>tTc	p.S1587F	ASH1L_uc001fkt.3_Missense_Mutation_p.S1587F|ASH1L_uc009wqr.1_Missense_Mutation_p.S1587F	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1587	Ser-rich.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCCTCCAAGGGATAAGCTTGG	0.478000														40			42		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54921988	54921988	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:54921988G>A	uc003dhf.3	+	23	2107	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.D593N|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	687						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.C686*(1)		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)		CCCAACAGGTGATAAAGAATT	0.522000														64			14		0	0	1	0	0
IMP4	92856	broad.mit.edu	37	2	131103684	131103684	+	Splice_Site	SNP	C	T	T	rs147137797		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:131103684C>T	uc002tra.1	+	7	706	c.689_splice	c.e7+1	p.R230_splice		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	Homo sapiens IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) (IMP4), mRNA.	230	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	ATP binding|aminoacyl-tRNA ligase activity|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CATATCATTCCGGTGGGTCCA	0.592000														60			17		0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259894	71259894	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:71259894C>T	uc001oqs.1	+	0	429	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_005553	NP_005544	P26371	KRA59_HUMAN	Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.	64	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament		p.S64F(2)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GGCTGTGGCTCCTGTGGGGGC	0.632000														170			47		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227958964	227958964	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:227958964G>A	uc021vxr.1	-	18	1347	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	COL4A4_uc021vxs.1_Missense_Mutation_p.P416S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	416	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGAAGCCCAGGAAGACCAGGA	0.507000														33			12		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31570434	31570434	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:31570434G>A	uc002rnv.1	-	28	3309	c.3230C>T	c.(3229-3231)cCc>cTc	p.P1077L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1077					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)	GGCAGCCGTGGGAGAGGTGTT	0.567000														85			26		0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10561296	10561296	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10561296G>A	uc002moj.2	+	4	746	c.638G>A	c.(637-639)gGc>gAc	p.G213D	PDE4A_uc021uow.1_Missense_Mutation_p.G191D|PDE4A_uc002mok.2_Missense_Mutation_p.G187D|PDE4A_uc002mol.2_Missense_Mutation_p.G152D|PDE4A_uc002mom.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	213					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCGCTGGGCGGCCCCACCCCT	0.662000														21			4		0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82065402	82065402	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:82065402C>T	uc003hmh.2	-	8	1250	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Missense_Mutation_p.E413K	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	413					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.E413D(1)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TGTCTTTTTTCATCATCACGG	0.418000														69			19		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32041498	32041498	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:32041498C>T	uc003nzl.2	-	11	4809	c.4607G>A	c.(4606-4608)aGa>aAa	p.R1536K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1623	Fibronectin type-III 7.				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						CTTATATTTTCTCTCAGGCTC	0.562000														15			5		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650906	90650906	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:90650906C>T	uc001xye.1	+	1	1228	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	262						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGCCAACTTCGTCTTCATCC	0.493000														79			24		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092892	30092892	+	RNA	SNP	A	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:30092892A>T	uc010dmc.3	+	0		c.1267A>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CTAAAGCAGAAAAACAATCAC	0.468000														25			4		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216974	21216974	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:21216974C>T	uc003zor.1	-	0	337	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	111					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGGAAAAGTTCAATGTAGAAT	0.488000														76			33		0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62550915	62550915	+	Nonsense_Mutation	SNP	A	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:62550915A>T	uc003xuj.3	-	10	1067	c.798T>A	c.(796-798)taT>taA	p.Y266*	ASPH_uc011leg.2_Nonsense_Mutation_p.Y237*|ASPH_uc003xuo.2_Nonsense_Mutation_p.Y247*|ASPH_uc003xul.3_Nonsense_Mutation_p.Y252*|ASPH_uc011lei.2_Nonsense_Mutation_p.Y251*|ASPH_uc011lej.2_Nonsense_Mutation_p.Y209*|ASPH_uc011leh.2_Nonsense_Mutation_p.Y232*|ASPH_uc003xum.3_Nonsense_Mutation_p.Y266*|ASPH_uc003xun.3_Nonsense_Mutation_p.Y223*|ASPH_uc011lek.2_Nonsense_Mutation_p.Y247*	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	266	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTAGAGGTTCATATACTGCTA	0.338000														35			15		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1513981	1513981	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:1513981G>A	uc003skn.2	-	40	5753	c.5652C>T	c.(5650-5652)atC>atT	p.I1884I		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1884					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGAGCGCCGCGATCATGGGCA	0.726000														55			27		0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76551162	76551162	+	Missense_Mutation	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:76551162T>C	uc011cbp.2	-	1	536	c.11A>G	c.(10-12)tAt>tGt	p.Y4C	CDKL2_uc003hiq.3_Missense_Mutation_p.Y4C|CDKL2_uc010iix.1_Non-coding_Transcript	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	4	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CAGGTTTTCATATTTTTCCAT	0.353000														77			17		0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918436	15918436	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:15918436G>A	uc002nbq.2	-	0	501	c.412C>T	c.(412-414)Ccg>Tcg	p.P138S		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CAGCCCCGCGGGCTCATGAGC	0.647000														74			19		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948883	38948883	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:38948883C>T	uc002oit.3	+	17	2248	c.2118C>T	c.(2116-2118)gtC>gtT	p.V706V	RYR1_uc002oiu.3_Silent_p.V706V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	706	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAACGGGGTCGGCGATGACC	0.657000														115			25		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20668389	20668389	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:20668389C>T	uc010kuh.3	+	3	424	c.187C>T	c.(187-189)Cct>Tct	p.P63S		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	262	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGCCTGCCTTCCTTTAATGCC	0.423000														20			6		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5011056	5011056	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:5011056C>T	uc001lzv.3	+	1	296	c.278C>T	c.(277-279)tCg>tTg	p.S93L		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	93					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACCTCCATCTCGCCAGGAAGA	0.517000														27			6		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24551732	24551732	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:24551732C>T	uc011djo.2	-	19	3470	c.2970G>A	c.(2968-2970)agG>agA	p.R990R	KIAA0319_uc011djp.2_Silent_p.R945R|KIAA0319_uc003neh.1_Silent_p.R990R|KIAA0319_uc011djq.1_Silent_p.R981R|KIAA0319_uc011djr.1_Intron|KIAA0319_uc010jpt.1_Silent_p.R401R	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	990					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTGTTTTTTTCCTGATTTTAG	0.398000														29			11		0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127411060	127411060	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:127411060C>T	uc003ejx.3	-	7	1038	c.893G>A	c.(892-894)gGa>gAa	p.G298E	MGLL_uc003ejw.3_Missense_Mutation_p.G308E|MGLL_uc011bko.2_Missense_Mutation_p.G278E|MGLL_uc003ejv.3_Missense_Mutation_p.G272E	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	298					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GGACGCAGTTCCTGCCGTGGC	0.567000														49			15		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25026685	25026685	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:25026685C>T	uc001upl.3	-	23	2979	c.2873G>A	c.(2872-2874)cGa>cAa	p.R958Q	PARP4_uc010tdc.2_Missense_Mutation_p.R958Q	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	958	VWFA.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding	p.L957L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCTAAGATATCGGAGTGTTTT	0.493000														89			27		0	0	1	0	0
C10orf128	170371	broad.mit.edu	37	10	50375042	50375042	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:50375042G>A	uc010qgo.2	-	2	136	c.110C>T	c.(109-111)gCc>gTc	p.A37V	C10orf128_uc001jhl.4_Non-coding_Transcript|C10orf128_uc001jhn.4_Missense_Mutation_p.A37V|C10orf128_uc001jho.4_Missense_Mutation_p.A37V			Q5T292	CJ128_HUMAN	Homo sapiens chromosome 10 open reading frame 128 (C10orf128), mRNA.	37						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						CCCGATGAGGGCGTACTTGAA	0.542000														42			14		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125626755	125626756	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:125626755_125626756CC>TT	uc001uhc.3	+	17	2205_2206	c.1999_2000CC>TT	c.(1999-2001)cct>TTt	p.P667F	AACS_uc001uhd.3_Missense_Mutation_p.P599L|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Missense_Mutation_p.P265F	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	667					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCGGGACATCCCTGAGCTGCAG	0.535000														55			14		0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12867657	12867657	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:12867657C>T	uc001ilo.3	+	9	1242	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L	CAMK1D_uc001iln.3_Missense_Mutation_p.S336L	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	336	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GCAAGTGTTTCGAGCAGCCTC	0.502000														110			32		0	0	1	0	0
XAF1	54739	broad.mit.edu	37	17	6674145	6674145	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:6674145G>A	uc002gdn.3	+	5	933	c.691G>A	c.(691-693)Gca>Aca	p.A231T	XAF1_uc002gdm.1_Missense_Mutation_p.A171T|XAF1_uc002gdo.3_Missense_Mutation_p.A212T|XAF1_uc002gdp.3_Missense_Mutation_p.A180T|XAF1_uc002gdq.3_Missense_Mutation_p.A63T|XAF1_uc002gdr.3_Missense_Mutation_p.A161T	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	Homo sapiens XIAP associated factor 1 (XAF1), transcript variant 1, mRNA.	231					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						ATCAAAGAAAGCACCAAGAAG	0.423000														52			12		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119991365	119991365	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:119991365G>A	uc001pwz.3	-	5	1568	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	TRIM29_uc001pwx.3_Non-coding_Transcript|TRIM29_uc010rzi.2_Missense_Mutation_p.R221W|TRIM29_uc010rzj.2_Missense_Mutation_p.R215W|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	482					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TATGATGTCCGGACCCCACCT	0.537000														12			6		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52066965	52066965	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:52066965G>A	uc001jje.3	-	10	2133	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	SGMS1_uc010qhk.2_Silent_p.F224F	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	399					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						CTGGCCAGGGGAAAGGCCAAT	0.483000														36			12		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559230	140559231	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140559230_140559231TC>AA	uc011dai.2	+	0	1860_1861	c.1615_1616TC>AA	c.(1615-1617)tcc>AAc	p.S539N	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	539	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S539S(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACCGCGGCTCCCCGGCTTTG	0.673000														352			31		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53044607	53044608	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:53044607_53044608CC>TT	uc003xqz.2	-	16	2732_2733	c.2576_2577GG>AA	c.(2575-2577)tgg>tAA	p.W859*	ST18_uc011ldq.1_Nonsense_Mutation_p.W506*|ST18_uc011ldr.1_Nonsense_Mutation_p.W824*|ST18_uc011lds.1_Nonsense_Mutation_p.W764*|ST18_uc003xra.2_Nonsense_Mutation_p.W859*	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	859						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTTCAGTTTCCAGGAGAGGGA	0.495000														57			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087897	9087897	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9087897C>T	uc002mkp.3	-	0	4122	c.3918G>A	c.(3916-3918)gaG>gaA	p.E1306E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1306	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E1306Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCTGTCATCTCAGGTGAAG	0.493000														64			17		0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24229438	24229438	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:24229438C>T	uc011mjv.2	+	9	2729	c.2480C>T	c.(2479-2481)cCt>cTt	p.P827L	ZFX_uc004dbd.2_Missense_Mutation_p.P788L|ZFX_uc004dbf.3_Missense_Mutation_p.P788L|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.P788L|ZFX_uc010nfx.2_Missense_Mutation_p.P559L|ZFX_uc010nfz.3_Missense_Mutation_p.P444L	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	788					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTCCGAAGACCTTCAGAAAAG	0.448000														30			30		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7774577	7774577	+	Silent	SNP	G	A	A	rs145238950		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:7774577G>A	uc011bwk.1	-	15	2496	c.2223C>T	c.(2221-2223)atC>atT	p.I741I	AFAP1_uc003gkg.1_Silent_p.I657I|AFAP1-AS1_uc003gkd.4_Non-coding_Transcript	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	657						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ACTTGGGCTCGATGGCCAGCC	0.667000														40			10		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604624	62604624	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:62604624G>A	uc003peg.2	-	5	973	c.726C>T	c.(724-726)gtC>gtT	p.V242V		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	242	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.G241G(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GAGGGGTAGGGACACCTCTTG	0.587000														24			16		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349920	233349920	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:233349920C>T	uc002vsv.2	-	2	1049	c.844G>A	c.(844-846)Gac>Aac	p.D282N	ECEL1_uc010fya.1_Missense_Mutation_p.D282N|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	282					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTCTCACTGTCCTCATCCTGA	0.662000														30			12		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260795	1260795	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:1260795C>T	uc002cks.3	+	20	4295	c.4047C>T	c.(4045-4047)gcC>gcT	p.A1349A	CACNA1H_uc002ckt.3_Silent_p.A1349A|CACNA1H_uc002cku.3_Silent_p.A55A|CACNA1H_uc010brj.3_Silent_p.A55A|CACNA1H_uc002ckv.3_Silent_p.A55A	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1349					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)	AGGTGGTGGCCCTGGGGCTGC	0.692000														43			8		0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39053697	39053697	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:39053697C>T	uc003ooj.4	+	12	1300	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	414					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	p.R414W(2)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GCTGGAATTTCGGAAGAGCTG	0.547000														199			40		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128127	6128127	+	Missense_Mutation	SNP	G	A	A	rs149424724	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:6128127G>A	uc001qnn.1	-	27	4707	c.4457C>T	c.(4456-4458)tCg>tTg	p.S1486L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1486					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.S1486L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCCAGGGTCGAAACCCCCAA	0.592000														34			12		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50404029	50404029	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:50404029C>T	uc003daq.3	-	30	2676	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N	CACNA2D2_uc003dap.3_Missense_Mutation_p.D873N	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	880					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.E879Q(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	ACCTCGCAGTCCATCTCACAG	0.587000														35			10		0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51480881	51480881	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51480881G>A	uc002puo.3	-	5	775	c.673C>T	c.(673-675)Cct>Tct	p.P225S	KLK7_uc002pup.3_Missense_Mutation_p.P225S|KLK7_uc021uyj.1_Missense_Mutation_p.P218S|KLK7_uc010eok.3_Missense_Mutation_p.P153S	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	225	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGGCCGCAAGGGAAAGTTCCC	0.527000														77			18		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38631905	38631905	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:38631905C>T	uc002ohk.3	+	10	3734	c.3225C>T	c.(3223-3225)ccC>ccT	p.P1075P		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1075					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCGGCCCCCCTACCGCAGCA	0.632000														99			23		0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220432650	220432650	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:220432650C>T	uc010fwk.3	-	2	1638	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	OBSL1_uc010fwl.2_Missense_Mutation_p.E442K|OBSL1_uc002vmi.3_Missense_Mutation_p.E442K	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	442					cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TTCTCTCCTTCCAGGACGTCG	0.632000														31			10		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58035302	58035302	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:58035302G>A	uc001nmq.1	-	0	431	c.29C>T	c.(28-30)tCc>tTc	p.S10F		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P9S(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TTCTGGGCAGGAGGGATAGGC	0.453000														38			11		0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102541064	102541064	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:102541064C>T	uc001krk.4	+	4	1108	c.558C>T	c.(556-558)tcC>tcT	p.S186S	PAX2_uc001krm.4_Silent_p.S186S|PAX2_uc001krn.4_Silent_p.S186S|PAX2_uc001kro.4_Silent_p.S186S|PAX2_uc010qps.2_Silent_p.S185S|PAX2_uc001krl.4_Silent_p.S186S|PAX2_uc001krp.1_Silent_p.S190S	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	186					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GATCCTACTCCATCAATGGGA	0.557000														111			35		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376689	376690	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:376689_376690CC>TT	uc001lpb.3	+	13	1575_1576	c.1566_1567CC>TT	c.(1564-1569)ccccca>ccTTca	p.P523S		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	523	Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCAGCCGCCCCCAAAGGTGTA	0.772000														3			3		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6655519	6655520	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:6655519_6655520CC>TT	uc001mem.1	-	2	2216_2217	c.1815_1816GG>AA	c.(1813-1818)gcggat>gcAAat	p.D606N		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	606	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A605T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCCACTATCCGCGTCTGTGG	0.574000														57			17		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203619	140203619	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140203619G>A	uc003lhl.2	+	0	2259	c.2259G>A	c.(2257-2259)agG>agA	p.R753R	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_uc003lhk.1_Silent_p.R753R|PCDHAC2_uc003lhj.1_Silent_p.R753R	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	791					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)			CGCAGCAGAGGAGACAGAGGG	0.632000														38			8		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117571	11117571	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:11117571G>A	uc003jfa.1	-	12	2413	c.2268C>T	c.(2266-2268)atC>atT	p.I756I	CTNND2_uc010itt.2_Silent_p.I665I|CTNND2_uc011cmy.1_Silent_p.I419I|CTNND2_uc011cmz.1_Silent_p.I323I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.I323I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	756					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I756I(8)		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						CCTTGCTATCGATCTCACTGC	0.527000														84			31		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103290785	103290785	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:103290785C>T	uc022ajr.1	-	15	2098	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R	RELN_uc022ajq.1_Silent_p.R646R|RELN_uc010liz.3_Silent_p.R646R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	646					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCTGGTGTTCCGGGTTAGTG	0.418000														83			7		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151962239	151962239	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:151962239C>T	uc003wla.3	-	7	1287	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	356					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.Q356K(2)		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)		TACAAAAGAACTGATCTAAGA	0.418000			N		medulloblastoma									331			8		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70070710	70070710	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:70070710C>T	uc001svg.3	-	6	1080	c.853G>A	c.(853-855)Gca>Aca	p.A285T	BEST3_uc001svd.2_Missense_Mutation_p.A285T|BEST3_uc001svf.3_Intron|BEST3_uc010stm.2_Missense_Mutation_p.A179T	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	285						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCCATCCTGCATAGAAGAAG	0.468000														115			26		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122387351	122387351	+	Missense_Mutation	SNP	T	A	A	rs144902457		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:122387351T>A	uc004etq.4	+	2	758	c.466T>A	c.(466-468)Tac>Aac	p.Y156N	GRIA3_uc004etr.4_Missense_Mutation_p.Y156N|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.Y140N	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	156					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCTGGGTCATTACAAGTGGGA	0.473000														25			24		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101786	21101786	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:21101786C>T	uc001iqi.3	-	23	2827	c.2430G>A	c.(2428-2430)agG>agA	p.R810R	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.R147R|NEBL_uc021pnu.1_Silent_p.R147R	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	810					regulation of actin filament length		actin binding|structural constituent of muscle	p.R810K(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGGTGTTCTTCCTCACTCTCT	0.483000														45			10		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898910	36898910	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:36898910C>T	uc003cgj.3	-	11	2419	c.2171G>A	c.(2170-2172)gGa>gAa	p.G724E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	724					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATCTTTCTTTCCTTCTTTGCC	0.562000														80			28		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17742434	17742434	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:17742434G>A	uc011mix.2	+	5	1462	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K	NHS_uc004cxx.3_Missense_Mutation_p.R354K|NHS_uc004cxy.3_Missense_Mutation_p.R198K|NHS_uc004cxz.3_Missense_Mutation_p.R177K|NHS_uc004cya.3_Missense_Mutation_p.R77K	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	354						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GGCTTTGACAGAGAGGCTAGT	0.438000														32			18		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114031325	114031325	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:114031325C>T	uc003ynu.3	-	5	1160	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	CSMD3_uc003ynt.3_Missense_Mutation_p.R294Q|CSMD3_uc011lhx.2_Missense_Mutation_p.R334Q|CSMD3_uc010mcx.1_Missense_Mutation_p.R334Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	334	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCACGGTATCGATGATTGCT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				83			21		0	0	1	0	0
LSM10	84967	broad.mit.edu	37	1	36859538	36859538	+	Missense_Mutation	SNP	G	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:36859538G>T	uc001cao.1	-	1	343	c.193C>A	c.(193-195)Cat>Aat	p.H65N	LSM10_uc021olj.1_Missense_Mutation_p.H65N	NM_032881	NP_116270	Q969L4	LSM10_HUMAN	Homo sapiens LSM10, U7 small nuclear RNA associated (LSM10), mRNA.	65					RNA splicing|S phase of mitotic cell cycle|histone mRNA metabolic process|mRNA processing|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				TTGACCTGATGCCCCCAACGG	0.572000														54			17		4.7546e-09	4.78399e-09	1	1	0
TBX18	9096	broad.mit.edu	37	6	85457714	85457714	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:85457714G>A	uc003pkl.1	-	4	863	c.863C>T	c.(862-864)cCa>cTa	p.P288L	TBX18_uc010kbq.2_Missense_Mutation_p.P130L	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	288					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)		CTCCCCGGATGGAACAGGCTT	0.448000														23			14		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889240	18889240	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:18889240C>T	uc021qvx.1	-	2	241	c.50G>A	c.(49-51)gGa>gAa	p.G17E	PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_5'UTR|CAPZA3_uc001rdy.3_5'Flank	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	17					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G16S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GTTAATTTTTCCACCTCTGAA	0.308000														30			11		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150722484	150722484	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:150722484G>A	uc003lty.3	-	3	535	c.405C>T	c.(403-405)ccC>ccT	p.P135P	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Silent_p.P135P|SLC36A2_uc011dct.1_Silent_p.P135P	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	135					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCAGGCGTTGGGGTTGGCTT	0.522000														44			10		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47835655	47835655	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:47835655C>T	uc003tny.2	-	54	8321	c.8287G>A	c.(8287-8289)Gaa>Aaa	p.E2763K	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2763					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						AGGACCTTTTCCCACATATAA	0.398000														116			16		0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958320	53958320	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:53958320C>T	uc010eqp.3	+	6	1017	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	ZNF761_uc010ydy.2_Missense_Mutation_p.H133Y|ZNF761_uc002qbt.2_Missense_Mutation_p.H133Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GCCCAAAACCCATATATCTAA	0.363000														84			19		0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95167003	95167003	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:95167003C>T	uc011kij.2	+	4	1284	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S		NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	405	SOCS box.				intracellular signal transduction			p.P405S(2)|p.I404F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TAGAGCAATTCCTTTGCTTTC	0.413000														73			28		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767475	105767475	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:105767475G>A	uc004bbs.2	+	4	632	c.562G>A	c.(562-564)Gat>Aat	p.D188N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	188	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				tgcaaagaaagataacaaaaa	0.368000														23			17		0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78742950	78742950	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:78742950C>T	uc003kfy.3	-	3	1416	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	HOMER1_uc010jab.3_Missense_Mutation_p.E105K|HOMER1_uc010jac.3_Intron|HOMER1_uc010jad.3_Intron	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	105	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TCTTTAAATTCCTGAAACTTT	0.338000														32			7		0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51363302	51363302	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51363302C>T	uc021uyi.1	+	4	746	c.705C>T	c.(703-705)gcC>gcT	p.A235A	KLK3_uc002pts.1_3'UTR|KLK3_uc002ptr.1_Silent_p.A192A|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	235	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.A235V(1)		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)		AACCATGTGCCCTGCCCGAAA	0.562000														81			28		0	0	1	0	0
PRMT1	3276	broad.mit.edu	37	19	50189399	50189399	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:50189399C>T	uc010enf.2	+	8	938	c.809C>T	c.(808-810)cCg>cTg	p.P270L	PRMT1_uc021uxu.1_Missense_Mutation_p.P246L|PRMT1_uc002ppe.3_Missense_Mutation_p.P252L|PRMT1_uc021uxv.1_Missense_Mutation_p.P184L|PRMT1_uc010yba.2_Non-coding_Transcript|PRMT1_uc010ybb.2_5'Flank|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA.	251						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TTCACCTCCCCGTTCTGCCTG	0.592000														35			15		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45938942	45938942	+	Silent	SNP	G	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:45938942G>T	uc001jce.3	+	10	1629	c.1530G>T	c.(1528-1530)gtG>gtT	p.V510V	ALOX5_uc009xmt.3_Silent_p.V478V|ALOX5_uc010qfg.2_Silent_p.V510V|ALOX5_uc021ppr.1_Nonsense_Mutation_p.E451*	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	510	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	AGGACTTCGTGAACGATGTCT	0.692000														36			8		0.000274275	0.00027512	1	1	0
ZNF341	84905	broad.mit.edu	37	20	32354733	32354733	+	Silent	SNP	G	A	A	rs150939868	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:32354733G>A	uc002wzy.3	+	8	1319	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P	ZNF341_uc002wzx.3_Silent_p.P426P|ZNF341_uc010geq.3_Silent_p.P343P|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGGACAAGCCGGAGTCCAAGC	0.612000														280			64		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9417781	9417781	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:9417781G>A	uc021wam.1	+	25	2725	c.2710G>A	c.(2710-2712)Ggt>Agt	p.G904S	PLCB4_uc010gbw.1_Missense_Mutation_p.G904S|PLCB4_uc010gbx.3_Missense_Mutation_p.G916S|PLCB4_uc021wal.1_Missense_Mutation_p.G904S|PLCB4_uc002wnh.3_Missense_Mutation_p.G751S	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	904					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.G904V(1)		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						CCTGGCCTCTGGTGTGGAAGC	0.483000														20			7		0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7611328	7611328	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:7611328G>A	uc002gis.3	+	1	572	c.175G>A	c.(175-177)Gac>Aac	p.D59N		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	59					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGACCGGCTAGACCTGCTCTG	0.617000														82			25		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55221763	55221763	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:55221763C>T	uc003tqk.3	+	6	1053	c.807C>T	c.(805-807)ctC>ctT	p.L269L	EGFR_uc003tqh.3_Silent_p.L269L|EGFR_uc003tqi.3_Silent_p.L269L|EGFR_uc003tqj.3_Silent_p.L269L|EGFR_uc022adm.1_Silent_p.L269L|EGFR_uc010kzg.2_Silent_p.L224L|EGFR_uc022adn.1_Silent_p.L224L|EGFR_uc011kco.2_Silent_p.L216L|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	269					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACTCATGCTCTACAACCCCA	0.577000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				82			27		0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3660912	3660912	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:3660912G>A	uc002qya.3	+	2	290	c.142G>A	c.(142-144)Gag>Aag	p.E48K	COLEC11_uc002qxz.3_Silent_p.E18E|COLEC11_uc002qyb.3_Intron|COLEC11_uc002qyc.3_Missense_Mutation_p.E48K|COLEC11_uc010ewo.3_Intron|COLEC11_uc010ewp.3_Missense_Mutation_p.E22K|COLEC11_uc010ewq.3_Intron|COLEC11_uc010ewr.3_Missense_Mutation_p.E22K|COLEC11_uc010ews.3_Intron	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	48						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GGATGCGGGAGAGAAGGGAGA	0.592000														19			4		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133351	51133351	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51133351G>A	uc002pst.3	-	2	1386	c.752C>T	c.(751-753)cCt>cTt	p.P251L	SYT3_uc002psv.3_Missense_Mutation_p.P251L|SYT3_uc010ycd.2_Missense_Mutation_p.P251L	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	251						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGCAGGGCAGGTGGCCGCTC	0.672000														41			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187123	140187123	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140187123C>T	uc003lhi.2	+	0	452	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.F117F|PCDHAC2_uc011daa.2_Silent_p.F117F	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	132	Cadherin 1.				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)			TGCAGGTTTTCCATGTGGACG	0.587000														117			30		0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38271320	38271320	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:38271320C>T	uc022aua.1	-	17	3237	c.2295G>A	c.(2293-2295)gaG>gaA	p.E765E	FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Silent_p.E796E|FGFR1_uc011lbv.2_Silent_p.E763E|FGFR1_uc011lbw.2_Silent_p.E676E|FGFR1_uc003xlp.3_Silent_p.E763E|FGFR1_uc022aub.1_Silent_p.E763E|FGFR1_uc022auc.1_Silent_p.E676E|FGFR1_uc022aud.1_Silent_p.E674E|FGFR1_uc010lwk.3_Silent_p.E755E	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	765	Protein kinase.				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGTCCAGGTACTCCTGTGATG	0.657000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							42			5		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	597450	597451	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:597450_597451CC>TT	uc002chi.3	+	3	975_976	c.612_613CC>TT	c.(610-615)ctcccc>ctTTcc	p.P205S	SOLH_uc002chh.1_Missense_Mutation_p.P205S	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	205					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				CACCTGGCCTCCCCGGGGAAGG	0.743000														13			5		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113261	161113261	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:161113261G>A	uc003lyu.2	+	1	402	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGGAAACTCGAAGTTGAAGG	0.478000										TCGA Ovarian(5;0.080)				46			20		0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135625235	135625235	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:135625235G>A	uc002ttz.3	+	5	640	c.573G>A	c.(571-573)tgG>tgA	p.W191*	ACMSD_uc002tua.3_Nonsense_Mutation_p.W133*|LOC100129961_uc010zbe.2_Non-coding_Transcript	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	191					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GGCTCCCTTGGCTTGTAGGTT	0.478000														81			26		0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185687872	185687872	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:185687872G>A	uc003iww.2	-	12	1461	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	ACSL1_uc011ckm.1_Silent_p.L218L|ACSL1_uc003iwt.1_Silent_p.L389L|ACSL1_uc003iwu.1_Silent_p.L389L|ACSL1_uc011ckn.1_Silent_p.L355L|ACSL1_uc003iws.1_5'UTR	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	389					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAAAGTCCAAGAGCCATCGCT	0.488000														85			31		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80388749	80388749	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:80388749G>A	uc003kha.2	+	9	1570	c.1520G>A	c.(1519-1521)aGa>aAa	p.R507K	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	507	PH 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 transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATATGTACAAGAAGTTCAGGA	0.373000														110			33		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325720	152325720	+	Silent	SNP	C	T	T	rs147635537		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152325720C>T	uc001ezw.4	-	2	4615	c.4542G>A	c.(4540-4542)tcG>tcA	p.S1514S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1514							calcium ion binding|structural molecule activity	p.G1513S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGTGTGTGCGAGCCCCCTG	0.493000														537			7		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928040	196928040	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:196928040G>A	uc001gtq.1	+	4	720	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CFHR2_uc001gtr.1_Missense_Mutation_p.E91K	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	215	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AGAAATTATGGAAAAATATAA	0.284000														25			7		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731866	96731866	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:96731866G>A	uc001kka.4	+	5	850	c.825G>A	c.(823-825)aaG>aaA	p.K275K	CYP2C9_uc009xut.3_Splice_Site_p.H274_splice	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	275					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CCTAGGAAAAGCACAACCAAC	0.353000														73			20		0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48155447	48155447	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:48155447C>T	uc010dbm.3	+	16	2641	c.2177C>T	c.(2176-2178)aCc>aTc	p.T726I	ITGA3_uc010dbl.3_Missense_Mutation_p.T726I	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	726					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ATCGGGGTGACCCTGCACACA	0.602000														83			14		0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44507259	44507259	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:44507259C>T	uc002xqd.3	+	1	2307	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	ZSWIM3_uc010zxg.2_Missense_Mutation_p.P682S|ZSWIM1_uc010ghi.3_5'Flank	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	688							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGAGGGATTCCCTCCTGCTAC	0.527000														89			46		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233323624	233323624	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:233323624G>A	uc002vst.4	+	10	1432	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E	ALPI_uc002vsu.4_Missense_Mutation_p.G363E	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	452					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.G452*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAGACCCACGGAGGCGAAGAC	0.692000														24			6		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358571	124358571	+	Missense_Mutation	SNP	C	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:124358571C>A	uc001lgk.1	+	25	3344	c.3238C>A	c.(3238-3240)Cac>Aac	p.H1080N	DMBT1_uc001lgl.1_Missense_Mutation_p.H1070N|DMBT1_uc001lgm.1_Missense_Mutation_p.H581N|DMBT1_uc021qaf.1_Missense_Mutation_p.H1080N|DMBT1_uc021qag.1_Missense_Mutation_p.H1070N|DMBT1_uc021qah.1_Missense_Mutation_p.H581N|DMBT1_uc009xzz.1_Missense_Mutation_p.H1080N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.H41N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1080	SRCR 8.				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)				CTGGCTCTCCCACAACTGTGG	0.567000														104			25		7.92952e-12	7.99335e-12	1	1	0
SERPINA4	5267	broad.mit.edu	37	14	95033382	95033383	+	Missense_Mutation	DNP	GG	AA	AA	rs140397956		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:95033382_95033383GG>AA	uc010avd.3	+	2	1110_1111	c.836_837GG>AA	c.(835-837)cgg>cAA	p.R279Q	SERPINA4_uc001ydk.3_Missense_Mutation_p.R242Q|SERPINA4_uc001ydl.3_Missense_Mutation_p.R242Q	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	242					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R242Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACAACAGTCCGGGTGCCCATGA	0.500000														42			19		0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539771	111539771	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:111539771C>T	uc003iaf.3	-	6	2287	c.464G>A	c.(463-465)gGc>gAc	p.G155D	PITX2_uc003iac.3_Missense_Mutation_p.G162D|PITX2_uc003iad.3_Missense_Mutation_p.G155D|PITX2_uc021xqr.1_Missense_Mutation_p.G155D|PITX2_uc003iae.3_Missense_Mutation_p.G109D|PITX2_uc021xqs.1_Missense_Mutation_p.G109D	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	155					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CGGCCCGAAGCCATTCTTGCA	0.592000														68			19		0	0	1	0	0
AACSP1	729522	broad.mit.edu	37	5	178199438	178199438	+	RNA	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:178199438C>T	uc011dgk.2	-	3		c.451G>A			AACSP1_uc011dgl.2_Non-coding_Transcript|AACSP1_uc003mjk.3_Non-coding_Transcript					Homo sapiens acetoacetyl-CoA synthetase pseudogene 1 (AACSP1), non-coding RNA.																		ACCGCGATGCCCTTGGTTTCC	0.612000														9			5		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530097	140530097	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140530097G>A	uc003lir.3	+	0	259	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	87	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGCTAAATGAAAAACTGGA	0.517000														90			26		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123838975	123838975	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:123838975G>A	uc010nqy.3	-	4	967	c.903C>T	c.(901-903)tcC>tcT	p.S301S	ODZ1_uc011muj.2_Silent_p.S301S|ODZ1_uc004euj.3_Silent_p.S301S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	301	Teneurin N-terminal.				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						AGGCAGGTCGGGAAAAGGTGC	0.527000														72			48		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172522	47172522	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:47172522G>A	uc001rpi.2	-	10	1154	c.755C>T	c.(754-756)cCt>cTt	p.P252L	SLC38A4_uc001rpj.2_Missense_Mutation_p.P252L	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	252					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ATCCAAAACAGGTAGAGGGCA	0.358000														37			9		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976453	38976453	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:38976453G>A	uc002oit.3	+	33	5288	c.5158G>A	c.(5158-5160)Gaa>Aaa	p.E1720K	RYR1_uc002oiu.3_Missense_Mutation_p.E1720K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1720	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATCCACCTCGAAAGTGCCTG	0.647000														90			21		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096871	167096871	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:167096871G>A	uc001geb.1	+	4	2519	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	835					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGACCTAAAGGAACTTGGCCG	0.522000														64			40		0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426893	6426893	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:6426893C>T	uc003spx.3	+	1	327	c.86C>T	c.(85-87)cCt>cTt	p.P29L	RAC1_uc003spw.3_Missense_Mutation_p.P29L|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	AATGCATTTCCTGGAGAATAT	0.353000														34			24		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449691	105449691	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:105449691C>T	uc022cca.1	+	0	266	c.266C>T	c.(265-267)tCa>tTa	p.S89L	MUM1L1_uc004emg.2_Missense_Mutation_p.S89L|MUM1L1_uc004emf.2_Missense_Mutation_p.S89L	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	89										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATGGAAGATCACTAAAAGTG	0.418000														13			11		0	0	1	0	0
ATOH8	84913	broad.mit.edu	37	2	85981884	85981884	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:85981884C>T	uc002sqm.4	+	0	976	c.572C>T	c.(571-573)tCc>tTc	p.S191F	ATOH8_uc002sqn.3_Missense_Mutation_p.S191F	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN	Homo sapiens atonal homolog 8 (Drosophila) (ATOH8), mRNA.	191					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGGGAAAGTTCCTACTCGTCA	0.682000														55			18		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78374167	78374167	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:78374167C>T	uc001xui.3	+	6	862	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Silent_p.L187L|ADCK1_uc001xuk.1_Silent_p.L129L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	262	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCACTGGGACCTGTCCACGGA	0.577000														18			13		0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29908045	29908045	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:29908045C>T	uc003afr.3	-	18	2097	c.1762G>A	c.(1762-1764)Ggg>Agg	p.G588R	THOC5_uc003afq.3_Missense_Mutation_p.G249R|THOC5_uc003afs.3_Missense_Mutation_p.G588R|THOC5_uc003aft.3_Missense_Mutation_p.G588R|THOC5_uc003afu.3_Missense_Mutation_p.G588R	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	588					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTTTCTCCCCTTTCCAGTTC	0.582000														35			13		0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125551344	125551344	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:125551344C>T	uc011lim.1	+	1	1	c.-84_splice	c.e1-1		TATDN1_uc003yre.2_5'Flank|TATDN1_uc003yrd.2_5'Flank|TATDN1_uc010mdm.2_5'Flank|NDUFB9_uc003yrg.4_Splice_Site	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.?(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GCAACTCCGCCCTTCCGGCTG	0.662000														52			15		0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122541	153122541	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:153122541G>A	uc021ozu.1	-	0	46	c.46C>T	c.(46-48)Cct>Tct	p.P16S	SPRR2G_uc009wod.2_Missense_Mutation_p.P16S	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	16					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCACACAGGAGGTGGCTGG	0.572000														176			25		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17120113	17120113	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:17120113C>T	uc002nfb.3	-	6	677	c.645_splice	c.e6+1	p.L215_splice		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	168						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCCACTCACCAGGATGTAGG	0.552000														125			31		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043849	20043849	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:20043849G>A	uc002dgu.1	-	1	432	c.270C>T	c.(268-270)ttC>ttT	p.F90F	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	90						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGTTCAAGATGAAATCTTCCA	0.463000														42			11		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217651	150217651	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:150217651G>A	uc003whk.3	+	1	719	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	GIMAP7_uc022apu.1_Missense_Mutation_p.E197K	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	197							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)		GCAGTGCAACGAAGGGGCTTA	0.443000														33			51		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134354664	134354664	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:134354664C>T	uc004can.4	+	17	4839	c.4784C>T	c.(4783-4785)tCc>tTc	p.S1595F	PRRC2B_uc004cao.4_Missense_Mutation_p.S953F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1595							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CGAGGCCTTTCCTCCCGTATT	0.527000														21			22		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10780308	10780308	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:10780308C>T	uc001qys.2	-	6	1170	c.649G>A	c.(649-651)Gat>Aat	p.D217N		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	217	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGAAGACCATCCATAGTCATC	0.398000										HNSCC(73;0.22)				47			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075928	9075928	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9075928G>A	uc002mkp.3	-	2	11722	c.11518C>T	c.(11518-11520)Cca>Tca	p.P3840S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3841	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						GCTGTGTGTGGGATCACATCC	0.502000														76			28		0	0	1	0	0
FCGR1C	100132417	broad.mit.edu	37	1	149375130	149375130	+	RNA	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:149375130T>C	uc010pbh.2	+	3		c.490T>C			FCGR1C_uc009wkz.1_Non-coding_Transcript					Homo sapiens Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene (FCGR1C), non-coding RNA.																		TTTAAGTTTTTCCACTGGAAT	0.453000														226			18		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56477726	56477726	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:56477726G>A	uc002qmh.3	+	4	2432	c.2361G>A	c.(2359-2361)cgG>cgA	p.R787R	NLRP8_uc010etg.3_Silent_p.R787R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	787						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)		GATCCCCCCGGTGCCGTCTGC	0.537000														50			9		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622307	18622307	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:18622307G>A	uc003zne.4	+	4	693	c.541G>A	c.(541-543)Gat>Aat	p.D181N	ADAMTSL1_uc003znb.3_Missense_Mutation_p.D181N|ADAMTSL1_uc003znc.4_Missense_Mutation_p.D181N	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	181						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.G180*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGCAACGGAGATGGGTCCAC	0.517000														39			18		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45717486	45717486	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:45717486G>A	uc003tne.4	+	8	1642	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	542					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)	ATTAAGAACAGCCTCGGAAAA	0.493000														134			20		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834386	101834386	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:101834386G>A	uc003knn.3	-	0	335	c.163C>T	c.(163-165)Cca>Tca	p.P55S	SLCO6A1_uc003kno.3_Missense_Mutation_p.P55S|SLCO6A1_uc003knp.3_Missense_Mutation_p.P55S|SLCO6A1_uc003knq.3_Missense_Mutation_p.P55S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	55						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAGGCCTCTGGAAGTAGTCTC	0.572000														227			58		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101606722	101606722	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:101606722C>T	uc010yvt.1	+	17	2029	c.2027C>T	c.(2026-2028)cCa>cTa	p.P676L	NPAS2_uc002tap.1_Missense_Mutation_p.P611L|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	611					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCAGGGTCCAAAGCCAATG	0.567000														97			22		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1424418	1424418	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:1424418G>A	uc010nct.2	+	12	1445	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.E375K|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Missense_Mutation_p.E375K|CSF2RA_uc004cpo.2_Missense_Mutation_p.E375K|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.E242K|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Missense_Mutation_p.E409K|CSF2RA_uc004cpr.2_3'UTR	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	375						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	GGTGGAAGACGAGGTAGGCAG	0.567000														63			21		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207874875	207874875	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:207874875G>A	uc001hga.4	+	8	1361	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	414	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TAAATCATGTGAAACTCCTCC	0.443000														106			21		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927886	22927886	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:22927886C>T	uc001bfx.1	+	15	2948	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	941	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTGGACTCCATCCGCATGG	0.687000														86			22		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19420509	19420509	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:19420509G>A	uc001bbi.3	-	94	13875	c.13871C>T	c.(13870-13872)tCc>tTc	p.S4624F	UBR4_uc010ocv.2_Missense_Mutation_p.S147F|UBR4_uc009vph.3_Missense_Mutation_p.S258F|UBR4_uc010ocw.2_Missense_Mutation_p.S288F|UBR4_uc001bbg.3_Missense_Mutation_p.S335F|UBR4_uc001bbh.3_Missense_Mutation_p.S333F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4624					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCTCCAAAGGAAAGGTACGG	0.458000														18			5		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57864713	57864713	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:57864713G>A	uc001snx.3	+	11	2284	c.2190G>A	c.(2188-2190)ctG>ctA	p.L730L	GLI1_uc021qzi.1_Silent_p.L689L|GLI1_uc009zpq.3_Silent_p.L602L	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	730					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTGATACTCTGGGATATGGGG	0.592000														106			24		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7523420	7523420	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:7523420C>T	uc002mgi.3	+	8	1893	c.1640C>T	c.(1639-1641)tCg>tTg	p.S547L	ARHGEF18_uc010xjm.1_Missense_Mutation_p.S389L|ARHGEF18_uc002mgh.3_Missense_Mutation_p.S389L|ARHGEF18_uc002mgj.1_Missense_Mutation_p.S190L	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	547	PH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCGTCATCTCGTTACAAAAG	0.552000														53			9		0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111414666	111414666	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:111414666G>A	uc001plr.1	+	2	464	c.128G>A	c.(127-129)gGa>gAa	p.G43E	LAYN_uc001plp.1_Missense_Mutation_p.G35E|LAYN_uc010rwg.1_5'UTR|LAYN_uc010rwh.2_5'UTR	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	Homo sapiens layilin (LAYN), mRNA.	43						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GTCTGCCGGGGAGGGACACAG	0.493000														36			17		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10647997	10647997	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:10647997G>A	uc010rcc.1	-	8	1270	c.884C>T	c.(883-885)cCc>cTc	p.P295L	MRVI1_uc010rcb.1_Missense_Mutation_p.P287L|MRVI1_uc001miw.2_Missense_Mutation_p.P286L|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.P204L|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	268					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GTACTGGAGGGGATCGAAGTT	0.547000														31			6		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22204957	22204957	+	Silent	SNP	G	A	A	rs143110975	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:22204957G>A	uc009vqd.3	-	19	2629	c.2589C>T	c.(2587-2589)ccC>ccT	p.P863P	HSPG2_uc001bfj.3_Silent_p.P862P	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	862	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGGGCTGGATGGGGTTGCCCT	0.682000														14			5		0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151081	105151081	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:105151081G>A	uc001tkz.3	+	2	1057	c.559G>A	c.(559-561)Gag>Aag	p.E187K	CHST11_uc001tky.3_Missense_Mutation_p.E182K	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	187					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity	p.R186L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GTTTGTCCGGGAGCCCTTCGA	0.537000														62			14		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31598888	31598888	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:31598888C>T	uc002wyj.3	+	2	362	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	56						extracellular region	lipid binding										TCCCTCATTTCCTGGACTGGA	0.622000														101			23		0	0	1	0	0
MIR205HG	642587	broad.mit.edu	37	1	209603798	209603798	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:209603798G>A	uc009xcn.3	+	2	523	c.140G>A	c.(139-141)tGg>tAg	p.W47*	MIR205HG_uc010psk.2_5'Flank	NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		TACCCATCTTGGAGGGTACGG	0.502000														143			18		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36748260	36748261	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:36748260_36748261CC>TT	uc001cae.4	+	2	320_321	c.96_97CC>TT	c.(94-99)tcccga>tcTTga	p.R33*	THRAP3_uc001caf.4_Nonsense_Mutation_p.R33*|THRAP3_uc001cag.1_Nonsense_Mutation_p.R33*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	33	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTCTCGGTCCCGAAGCCGATC	0.460000			T	USP6	aneurysmal bone cysts									52			20		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74277017	74277017	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:74277017G>A	uc002jrd.1	-	8	3963	c.3783C>T	c.(3781-3783)ggC>ggT	p.G1261G	QRICH2_uc010dgw.1_Silent_p.G105G	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1261							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCTGCACACGGCCCAGCAGCT	0.617000														39			11		0	0	1	0	0
OR2A7	401427	broad.mit.edu	37	7	143956672	143956672	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:143956672G>A	uc011kuc.2	-	0	50	c.50C>T	c.(49-51)cCc>cTc	p.P17L	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P17S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TGGGCCAACGGGAAATCCCAG	0.498000														270			59		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35619164	35619164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:35619164C>T	uc021rid.1	+	2	1141	c.607C>T	c.(607-609)Cga>Tga	p.R203*	NBEA_uc021ric.1_Nonsense_Mutation_p.R203*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	203						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGCATGCTTCGAGGAGAAAG	0.408000														17			5		0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232390018	232390018	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:232390018G>A	uc002vry.4	-	2	1127	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	339					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGCCGGAGATGACGTGCACGT	0.642000														91			25		0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72364489	72364489	+	Missense_Mutation	SNP	A	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:72364489A>T	uc003kcl.3	+	18	1578	c.1462A>T	c.(1462-1464)Agc>Tgc	p.S488C	FCHO2_uc011csl.2_Missense_Mutation_p.S455C|FCHO2_uc010izb.3_5'UTR|FCHO2_uc011csn.2_5'UTR	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	488	Ser-rich.									cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CAGGCCATTCAGCCCACCTGT	0.403000														44			15		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803068	185803068	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:185803068G>A	uc002uph.3	+	3	3539	c.2945G>A	c.(2944-2946)gGa>gAa	p.G982E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	982						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTTCCACAAGGAAAGATGAAT	0.418000														93			22		0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68788229	68788229	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:68788229C>T	uc021xag.1	-	4	901	c.408G>A	c.(406-408)acG>acA	p.T136T	FAM19A4_uc021xah.1_Silent_p.T136T	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	136						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TACTTGCCTTCGTAGTTTTGA	0.408000														77			25		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71005895	71005895	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:71005895G>A	uc001jpf.4	+	7	1069	c.936G>A	c.(934-936)aaG>aaA	p.K312K	HKDC1_uc010qje.2_Silent_p.K175K	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	312					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCTTGCTGAAGATGGCCAAGG	0.542000														71			28		0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41740650	41740650	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:41740650G>A	uc003orc.1	-	4	545	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	101	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGATCCTGAAGGAGGTTGAAG	0.522000														44			15		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424312	56424312	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:56424312C>T	uc010ygg.2	-	4	896	c.871G>A	c.(871-873)Gat>Aat	p.D291N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	291	NACHT.						ATP binding	p.D291N(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCATCAAAATCGGGCCAATCC	0.398000														68			21		0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136476275	136476275	+	Missense_Mutation	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:136476275A>G	uc003lbo.3	-	2	532	c.341T>C	c.(340-342)cTc>cCc	p.L114P	SPOCK1_uc003lbp.3_Missense_Mutation_p.L114P	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	114					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTACCTGGGGAGCAGGTGCTT	0.612000														20			7		0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24502822	24502822	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:24502822C>T	uc003nef.3	+	1	454	c.426C>T	c.(424-426)atC>atT	p.I142I	ALDH5A1_uc003neg.3_Silent_p.I142I	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	142					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CCAGAATAATCACAGCTGAAA	0.403000														26			3		0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26409900	26409900	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:26409900G>A	uc003nhv.3	+	4	1223	c.855G>A	c.(853-855)aaG>aaA	p.K285K	BTN3A1_uc011dkj.2_Silent_p.K285K|BTN3A1_uc010jqj.3_Silent_p.K285K|BTN3A1_uc011dkk.2_Silent_p.K233K	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	285					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GAAAGAAAAAGAGAGAGCAAG	0.502000														134			24		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47944602	47944602	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:47944602C>T	uc010ele.3	-	3	1875	c.1859G>A	c.(1858-1860)gGg>gAg	p.G620E	SLC8A2_uc002pgx.3_Missense_Mutation_p.G620E|SLC8A2_uc010xyq.2_Missense_Mutation_p.G376E|SLC8A2_uc010xyr.2_Missense_Mutation_p.G83E			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	620					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACCTGAAATCCCTCGCTTAAG	0.517000														31			10		0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155217906	155217906	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:155217906G>A	uc001fjm.3	-	10	2374	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	FAM189B_uc009wql.3_Missense_Mutation_p.R392C|FAM189B_uc001fjn.3_Missense_Mutation_p.R494C|FAM189B_uc001fjo.3_Missense_Mutation_p.R572C|FAM189B_uc001fjp.3_Non-coding_Transcript	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	590						integral to membrane	WW domain binding	p.R590C(2)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGGAGGAAACGAGTGACCAGG	0.607000														50			9		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79351564	79351564	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:79351564G>A	uc003hlb.2	+	36	5402	c.4962G>A	c.(4960-4962)atG>atA	p.M1654I	FRAS1_uc003hkw.3_Missense_Mutation_p.M1654I|FRAS1_uc010ijj.2_Missense_Mutation_p.M74I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1653					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						GAAGGCCGATGGCCACAGGTA	0.502000														17			5		0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651148	75651149	+	Splice_Site	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:75651148_75651149CC>TT	uc002bah.3	-	19	2210	c.2193_splice	c.e19-1	p.R731_splice	MAN2C1_uc010bkk.3_Splice_Site_p.R615_splice|MAN2C1_uc002baf.3_Splice_Site_p.R714_splice|MAN2C1_uc002bag.3_Splice_Site_p.R714_splice			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	714					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCAATGGCCTCCCTGGAAGGAC	0.574000														13			4		0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38645006	38645006	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:38645006C>T	uc010cxb.3	-	2	819	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	219	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.S218L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GAGAGACCCTCTGAGGGGGGC	0.652000														65			18		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433643	69433643	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:69433643C>T	uc021xov.1	-	0	603	c.560G>A	c.(559-561)gGa>gAa	p.G187E		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	187					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GAACAGAAATCCTCCACCATT	0.398000														129			23		0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75513071	75513071	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:75513071C>T	uc003udw.1	+	2	726	c.642C>T	c.(640-642)ctC>ctT	p.L214L	RHBDD2_uc003udv.1_Silent_p.L73L	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	214						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CACTGAAGCTCGATCAGACCT	0.557000														123			92		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67508588	67508588	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:67508588G>A	uc002lkl.3	+	7	1162	c.965G>A	c.(964-966)gGa>gAa	p.G322E		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	322							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGCAGCTATGGATTCAGCTAC	0.552000														62			12		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409738	19409738	+	RNA	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:19409738C>T	uc010tcj.1	-	0		c.36372G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTGACATATCCTCTCTTCTAC	0.373000														71			22		0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153574062	153574062	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:153574062C>T	uc003imw.2	-	1	314	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	Homo sapiens transmembrane protein 154 (TMEM154), mRNA.	28						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCTGAGTTTTCTAATTCCTCA	0.313000														15			8		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326817	152326817	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152326817C>T	uc001ezw.4	-	2	3518	c.3445G>A	c.(3445-3447)Ggt>Agt	p.G1149S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1149	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTGACCTGATCTGTAC	0.517000														177			168		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321255	79321255	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:79321255C>T	uc010mpk.3	-	7	6059	c.5935G>A	c.(5935-5937)Gaa>Aaa	p.E1979K	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.E1801K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1979					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAACTATTTTCCTCTGCGTGA	0.433000														58			47		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34042940	34042940	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:34042940G>A	uc001bxm.1	-	48	7709	c.7532C>T	c.(7531-7533)cCc>cTc	p.P2511L	CSMD2_uc001bxn.1_Missense_Mutation_p.P2513L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2513	Sushi 14.					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)				GTAGCCCTGGGGGTGCCGGGT	0.622000														83			24		0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49142438	49142438	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:49142438C>T	uc004dnh.2	+	3	1313	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	PPP1R3F_uc004dni.3_Missense_Mutation_p.S83F|PPP1R3F_uc011mnd.2_Missense_Mutation_p.S100F|PPP1R3F_uc004dnj.2_Missense_Mutation_p.S83F	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	429						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTGGGTGGCTCCCCCAGAGAC	0.667000														14			3		0	0	1	0	0
TWF1	5756	broad.mit.edu	37	12	44193227	44193227	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:44193227C>T	uc001roa.3	-	4	587	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	TWF1_uc001rnz.3_Missense_Mutation_p.E55K|TWF1_uc001rob.3_Missense_Mutation_p.E153K|TWF1_uc001roc.3_Missense_Mutation_p.E55K	NM_002822	NP_002813	Q12792	TWF1_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila) (TWF1), transcript variant 2, mRNA.	153	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TGTCGTAGTTCTTCCTCAGCT	0.338000														11			3		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655306	46655306	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:46655306C>T	uc003bhh.3	-	0	3914	c.3914G>A	c.(3913-3915)cGa>cAa	p.R1305Q		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1305	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCTAGGCGATCGACCCTCGTT	0.453000														71			52		0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209880365	209880365	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:209880365C>T	uc001hhj.3	+	4	541	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	HSD11B1_uc021pin.1_Missense_Mutation_p.R137C|HSD11B1_uc001hhk.3_Missense_Mutation_p.R137C	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	137					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	TCACCATGTGCGCAAAAGCAT	0.453000														146			19		0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177690242	177690242	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:177690242C>T	uc021yiz.1	-	8	964	c.606G>A	c.(604-606)ggG>ggA	p.G202G	COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_Missense_Mutation_p.G50E	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	202	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGCCATCTTTCCCAGTGTCGC	0.647000														34			9		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138645190	138645190	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:138645190G>A	uc003qhu.3	+	30	5071	c.4900G>A	c.(4900-4902)Gag>Aag	p.E1634K		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1634					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCGGCACGGAGAGCTTCAG	0.652000														49			21		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141777598	141777598	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:141777598C>T	uc002tvj.1	-	11	2835	c.1863G>A	c.(1861-1863)agG>agA	p.R621R	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	621					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)		TAATGGTTTTCCTATGGCCAT	0.418000										TSP Lung(27;0.18)				83			27		0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406423	39406423	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:39406423C>T	uc002hwi.3	+	0	485	c.451C>T	c.(451-453)Cct>Tct	p.P151S		NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA.	151	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCTGTCAGCCTTTTTGCTG	0.527000														131			29		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655581	48655581	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:48655581C>T	uc002irk.1	+	8	2329	c.1957C>T	c.(1957-1959)Cct>Tct	p.P653S	CACNA1G_uc002iri.1_Missense_Mutation_p.P653S|CACNA1G_uc002irj.1_Missense_Mutation_p.P653S|CACNA1G_uc002irl.1_Missense_Mutation_p.P653S|CACNA1G_uc002irm.1_Missense_Mutation_p.P653S|CACNA1G_uc002irn.1_Missense_Mutation_p.P653S|CACNA1G_uc002iro.1_Missense_Mutation_p.P653S|CACNA1G_uc002irp.1_Missense_Mutation_p.P653S|CACNA1G_uc002irq.1_Missense_Mutation_p.P653S|CACNA1G_uc002irr.1_Missense_Mutation_p.P653S|CACNA1G_uc002irs.1_Missense_Mutation_p.P653S|CACNA1G_uc002irt.1_Missense_Mutation_p.P653S|CACNA1G_uc002iru.1_Missense_Mutation_p.P653S|CACNA1G_uc002irv.1_Missense_Mutation_p.P653S|CACNA1G_uc002irw.1_Missense_Mutation_p.P653S|CACNA1G_uc002irx.1_Missense_Mutation_p.P566S|CACNA1G_uc002iry.1_Missense_Mutation_p.P566S|CACNA1G_uc002isg.1_Missense_Mutation_p.P566S|CACNA1G_uc002ish.1_Missense_Mutation_p.P566S|CACNA1G_uc002isi.1_Missense_Mutation_p.P566S|CACNA1G_uc002irz.1_Missense_Mutation_p.P566S|CACNA1G_uc002isa.1_Missense_Mutation_p.P566S|CACNA1G_uc002isd.1_Missense_Mutation_p.P566S|CACNA1G_uc002isb.1_Missense_Mutation_p.P566S|CACNA1G_uc002isc.1_Missense_Mutation_p.P566S|CACNA1G_uc002ise.1_Missense_Mutation_p.P566S|CACNA1G_uc002isf.1_Missense_Mutation_p.P566S	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	653					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GATCTCCAGCCCTTGCTTGAA	0.622000														90			14		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38509565	38509565	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:38509565G>A	uc003auy.1	-	14	2267	c.2131C>T	c.(2131-2133)Ccc>Tcc	p.P711S	PLA2G6_uc003auz.1_Missense_Mutation_p.P657S|PLA2G6_uc003ava.1_Missense_Mutation_p.P711S|PLA2G6_uc003avb.2_Missense_Mutation_p.P657S|PLA2G6_uc010gxk.1_Non-coding_Transcript|BAIAP2L2_uc003auw.3_5'Flank|PLA2G6_uc003aux.1_Missense_Mutation_p.S102F	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	711					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGTTGCTGGGACGGAAGACA	0.602000														146			24		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130021485	130021485	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:130021485G>A	uc003vpx.3	+	2	234	c.162G>A	c.(160-162)cgG>cgA	p.R54R	CPA1_uc011kpf.1_Intron|CPA1_uc003vpw.2_Silent_p.R54R	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	54					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACTTCTGGCGGGGGCCTGCCC	0.682000														88			13		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794543	15794543	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:15794543G>A	uc002nbl.3	+	6	1007	c.888G>A	c.(886-888)ttG>ttA	p.L296L		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCAAGACTTTGGATTTCATTG	0.443000														133			38		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197391068	197391068	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:197391068G>A	uc001gtz.3	+	5	2319	c.2110G>A	c.(2110-2112)Ggc>Agc	p.G704S	CRB1_uc010poz.2_Missense_Mutation_p.G635S|CRB1_uc009wza.3_Missense_Mutation_p.G592S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G704S|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.G185S|CRB1_uc001gub.1_Missense_Mutation_p.G353S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	704	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						GCCCTATGAAGGCCCCAACTG	0.517000														54			35		0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219561836	219561836	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:219561836G>A	uc002viu.3	+	22	2940	c.2661G>A	c.(2659-2661)atG>atA	p.M887I	STK36_uc002viv.3_Missense_Mutation_p.M866I|STK36_uc002vix.3_5'UTR	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	887					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GCTTCTCCATGGTCCTGAGGC	0.557000														160			44		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31918096	31918096	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31918096G>A	uc003nyj.4	+	11	1818	c.1540G>A	c.(1540-1542)Gct>Act	p.A514T	CFB_uc011dor.2_Missense_Mutation_p.A1016T|CFB_uc003nyi.2_Missense_Mutation_p.A514T	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	514	Peptidase S1.				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						CTGTATGGGGGCTGTGGTGTC	0.488000														38			32		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2418402	2418402	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:2418402C>T	uc001aji.1	+	5	1144	c.870C>T	c.(868-870)tgC>tgT	p.C290C	PLCH2_uc010nyz.2_Silent_p.C79C|PLCH2_uc009vle.1_Silent_p.C79C|PLCH2_uc001ajj.1_Silent_p.C79C|PLCH2_uc001ajk.1_Silent_p.C79C	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	291					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TTGAGCCATGCCCAGAAAACA	0.632000														16			5		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022168	107022168	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:107022168G>A	uc001kyi.1	+	25	3750	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1175						integral to membrane	neuropeptide receptor activity	p.E1175K(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGCCAAAGTGAAAACGCCCC	0.507000														35			32		0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131840213	131840213	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:131840213G>A	uc002tsd.3	-	1	236	c.7C>T	c.(7-9)Cct>Tct	p.P3S		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	3										endometrium(3)|lung(2)	5						CTATAAACAGGATTCATGATT	0.358000														11			5		0	0	1	0	0
E2F2	1870	broad.mit.edu	37	1	23848336	23848337	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:23848336_23848337GG>AA	uc001bhe.2	-	2	997_998	c.570_571CC>TT	c.(568-573)atccag>atTTag	p.Q191*		NM_004091	NP_004082	Q14209	E2F2_HUMAN	Homo sapiens E2F transcription factor 2 (E2F2), mRNA.	191					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CACACCCACTGGATGTTGTTCT	0.614000														43			19		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381462	156381462	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:156381462C>T	uc003lwh.2	-	1	421	c.364G>A	c.(364-366)Gat>Aat	p.D122N	TIMD4_uc010jii.2_Missense_Mutation_p.D122N	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	122	Ig-like V-type.					integral to membrane		p.N121N(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCTTTACATCGTTGAACCAG	0.507000														46			18		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6206387	6206387	+	Missense_Mutation	SNP	C	T	T	rs150733401	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:6206387C>T	uc001amb.2	-	10	1798	c.1687G>A	c.(1687-1689)Ggc>Agc	p.G563S	CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	563					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCGCTCTTGCCGTCTTCATCC	0.547000														48			13		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172163026	172163026	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:172163026G>A	uc003fib.2	-	1	1069	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	FJ355932_uc021xhj.1_5'Flank	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	342					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.P342P(4)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCTGGGAGAAGGGTTCGAATC	0.478000														93			25		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66465411	66465411	+	Missense_Mutation	SNP	G	A	A	rs147639877		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:66465411G>A	uc003dmx.3	-	4	594	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	LRIG1_uc010hnz.3_5'UTR|LRIG1_uc010hoa.3_Missense_Mutation_p.R194C	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	194						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)		TTGCTCAGGCGAAGAGTTAGC	0.478000														65			20		0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59420337	59420337	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:59420337G>A	uc001noe.4	-	9	1419	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	PATL1_uc009yms.1_Missense_Mutation_p.P396S|PATL1_uc010rkw.2_Missense_Mutation_p.P131S	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	426	Region H.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TCCAGGTAGGGATCAGTGCTT	0.408000														32			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179648464	179648464	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:179648464G>A	uc021vsy.1	-	16	3049	c.2824C>T	c.(2824-2826)Cca>Tca	p.P942S	TTN_uc021vsz.1_Missense_Mutation_p.P896S|TTN_uc021vta.1_Missense_Mutation_p.P896S|TTN_uc021vtb.1_Missense_Mutation_p.P896S|TTN_uc002unb.2_Missense_Mutation_p.P942S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	942							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)			AAAGTTGGTGGAGTAACAGGA	0.353000														29			10		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10430053	10430053	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10430053C>T	uc010coi.3	-	29	4178	c.4050G>A	c.(4048-4050)cgG>cgA	p.R1350R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1350R|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.	1350					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						CATACTGTTCCCGCAGCAGGT	0.557000														90			21		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31328554	31328554	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:31328554C>T	uc003aje.1	-	23	3903	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	909							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ACAAGCAGGTCGATGGTCTCG	0.582000														72			8		0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377328	125377328	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:125377328C>T	uc011lyy.2	+	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTTATTTCTTCATTTGCTTCG	0.468000														106			75		0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26883577	26883577	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:26883577C>T	uc001bmr.1	+	12	1233	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	RPS6KA1_uc010ofe.1_Missense_Mutation_p.S265F|RPS6KA1_uc010off.1_Missense_Mutation_p.S341F|RPS6KA1_uc001bms.1_Missense_Mutation_p.S366F|RPS6KA1_uc009vsl.1_Missense_Mutation_p.S200F	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	357	AGC-kinase C-terminal.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GAGTTCACGTCCCGCACACCC	0.577000														61			20		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899030	205899030	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:205899030G>A	uc001hdp.3	-	5	821	c.707C>T	c.(706-708)tCc>tTc	p.S236F	SLC26A9_uc001hdo.3_5'Flank|SLC26A9_uc001hdq.3_Missense_Mutation_p.S236F	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	236						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AAAGACGATGGACCCTGGGCC	0.567000														67			8		0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032625	55032625	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:55032625C>T	uc010rid.2	+	1	380	c.294C>T	c.(292-294)ctC>ctT	p.L98L		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	82						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAGCCAGTCTCTGGCTATTCC	0.453000														54			18		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94476464	94476464	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:94476464G>A	uc001dqh.3	-	39	5710	c.5606C>T	c.(5605-5607)cCg>cTg	p.P1869L	ABCA4_uc001dqi.1_5'UTR|ABCA4_uc009wdp.1_Missense_Mutation_p.P137L	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1869					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)		CCAGTGGAACGGATTTGCAGA	0.592000														52			12		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996005	57996005	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:57996005C>T	uc010rkd.2	-	0	386	c.343G>A	c.(343-345)Gac>Aac	p.D115N		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGGAAACAGTCCGTGCTGCCG	0.557000														42			10		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402120	89402120	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:89402120G>A	uc010upo.1	+	11	6678	c.6304G>A	c.(6304-6306)Gag>Aag	p.E2102K	ACAN_uc010upp.1_Missense_Mutation_p.E2102K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2102					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ATCTAGCAGTGAGACGTCCGC	0.572000														42			10		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52848312	52848312	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:52848312G>A	uc011bem.2	-	21	2582	c.2554C>T	c.(2554-2556)Ctg>Ttg	p.L852L	AX746575_uc003dfw.1_5'Flank|ITIH4_uc011bel.2_Silent_p.L561L|ITIH4_uc003dfy.3_Silent_p.L642L|ITIH4_uc003dfz.3_Silent_p.L847L|ITIH4_uc011ben.2_Silent_p.L817L	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	847					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAGAACAACAGGCCGATGGTC	0.597000														62			13		0	0	1	0	0
BOP1	23246	broad.mit.edu	37	8	145512977	145512977	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:145512977G>A	uc003zbr.1	-	1	176	c.108C>T	c.(106-108)ctC>ctT	p.L36L	HSF1_uc003zbt.4_5'Flank|HSF1_uc003zbu.4_5'Flank	NM_015201	NP_056016	Q14137	BOP1_HUMAN	Homo sapiens block of proliferation 1 (BOP1), mRNA.	36					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|nucleoplasm	protein binding			lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-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;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			AGGTGCAGAGGAGGGGGGGCT	0.632000														21			9		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132400953	132400953	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:132400953C>T	uc001uje.3	+	19	2157	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	630					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCTGTGCCCTCCTTTGACTTC	0.687000														110			23		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45701664	45701664	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:45701664C>T	uc003tne.4	+	7	1474	c.1456C>T	c.(1456-1458)Cca>Tca	p.P486S	ADCY1_uc003tnd.3_Missense_Mutation_p.P261S	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	486					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	p.P486S(2)		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)	ACAGATATTTCCAGGCCTGAT	0.488000														41			19		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4389719	4389719	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:4389719C>T	uc002fxt.3	+	10	1335	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	SPNS3_uc002fxu.3_Silent_p.L304L|AX748345_uc002fxw.1_Non-coding_Transcript	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	431					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTCTAGTGTCCTGCGGGCCAG	0.657000														35			9		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876151	2876151	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:2876151G>A	uc022aqr.1	-	51	8267	c.7877C>T	c.(7876-7878)tCc>tTc	p.S2626F	CSMD1_uc011kwj.2_Missense_Mutation_p.S1956F|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2627	Sushi 17.					integral to membrane		p.S2355F(1)|p.S2626F(1)		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)		TGGGGGAAAGGAAAGGCTTCC	0.423000														70			26		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43634451	43634451	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:43634451G>A	uc004dfz.4	-	11	1382	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	MAOB_uc011mkx.2_Intron|MAOB_uc011mky.2_Silent_p.F386F	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	402					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCCCAGGGGGGAAATAAGTTG	0.453000														5			4		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540733	55540733	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:55540733G>A	uc003xsd.1	+	3	4439	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1431					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1431K(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTTCAGGATGAAAATGCATA	0.373000														49			4		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112329617	112329617	+	Silent	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:112329617A>G	uc001ebu.1	-	2	1698	c.1218T>C	c.(1216-1218)ttT>ttC	p.F406F	KCND3_uc001ebv.1_Silent_p.F406F	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	406						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AAATCCGGCTAAAGTTGGAAA	0.547000														60			24		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29853296	29853296	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:29853296C>T	uc002dui.3	+	9	1649	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S	BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Silent_p.S499S|MVP_uc010vea.2_Silent_p.S93S	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	499					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CAGTGTTGTCCCTCTCAGCTG	0.647000														33			9		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129107	152129107	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:152129107G>A	uc001ezs.1	-	2	533	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	156	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GACCATGGTGGGAATCTCTGT	0.512000														331			398		0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106064220	106064220	+	Missense_Mutation	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:106064220A>G	uc004emo.3	+	2	520	c.355A>G	c.(355-357)Ata>Gta	p.I119V	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Missense_Mutation_p.I119V|TBC1D8B_uc004emn.3_Missense_Mutation_p.I119V	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	119						intracellular	Rab GTPase activator activity|calcium ion binding	p.K118E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACAAGGAAAAATAAGAGTAAG	0.338000														16			14		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35985753	35985753	+	Missense_Mutation	SNP	C	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:35985753C>G	uc004ddj.3	+	9	1684	c.1618C>G	c.(1618-1620)Cgt>Ggt	p.R540G	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	540										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GCCTTCGATCCGTAATCCCAC	0.338000														13			11		0	0	1	0	0
SSR2	6746	broad.mit.edu	37	1	155981610	155981610	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:155981610G>A	uc001fmx.3	-	4	512	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SSR2_uc001fmv.3_Non-coding_Transcript|SSR2_uc010pgw.2_3'UTR	NM_003145	NP_003136	P43308	SSRB_HUMAN	Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA.	144					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAAAATGAGGGGAGAATCGCC	0.468000														239			45		0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57876598	57876598	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:57876598C>T	uc002yap.3	+	1	555	c.186C>T	c.(184-186)ggC>ggT	p.G62G	EDN3_uc002yao.1_Silent_p.G62G|EDN3_uc002yaq.3_Silent_p.G62G|EDN3_uc002yar.3_Silent_p.G62G|EDN3_uc002yas.3_Silent_p.G62G	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	62					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)					CTGGCCCTGGCGAGGGGACTG	0.716000														54			10		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269244	150269244	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:150269244C>T	uc003whl.3	+	2	168	c.86C>T	c.(85-87)tCc>tTc	p.S29F	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Missense_Mutation_p.S43F	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	29							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)		CCCAGAAATTCCCAATTGAGA	0.463000														99			15		0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129676500	129676500	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:129676500G>A	uc001lka.1	-	2	757	c.594C>T	c.(592-594)atC>atT	p.I198I	CLRN3_uc001ljz.1_Silent_p.I130I	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	198						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				GGTAGAAAATGATGATGGTTA	0.453000														122			26		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114293157	114293157	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:114293157C>T	uc004bff.2	+	2	639	c.415C>T	c.(415-417)Cca>Tca	p.P139S	ZNF483_uc011lwq.2_Missense_Mutation_p.P139S|ZNF483_uc004bfg.2_Missense_Mutation_p.P139S	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	139					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TTTCCTAGATCCAGTCTCTCA	0.338000														35			31		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39921213	39921213	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:39921213G>A	uc002hxq.2	-	5	1293	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.S339F|JUP_uc002hxs.2_Missense_Mutation_p.S339F	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	339					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGGACACACGGATAGCACCTT	0.592000														120			67		0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4245657	4245657	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:4245657G>A	uc002cvz.4	-	4	520	c.507C>T	c.(505-507)ttC>ttT	p.F169F	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	628	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GCTTCTCTAGGAAATTCTGGC	0.517000														76			27		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169623541	169623541	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:169623541C>T	uc003qwt.3	-	18	3051	c.2803G>A	c.(2803-2805)Gat>Aat	p.D935N		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	935					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTGTCAAAATCATCTTTACAA	0.418000														43			17		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891447	18891447	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:18891447G>A	uc001rdy.3	+	0	403	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	82					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GGCGACTACCGATTTTTTGAC	0.418000														54			16		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27456642	27456642	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:27456642C>T	uc002rji.3	+	20	3527	c.3365C>T	c.(3364-3366)cCc>cTc	p.P1122L	CAD_uc010eyw.3_Missense_Mutation_p.P1059L	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1122	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAAGAGCATCCCGTGGTCATC	0.592000														46			11		0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	34003558	34003558	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:34003558G>A	uc002nur.4	-	1	275	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	PEPD_uc010xrs.2_Silent_p.L48L|PEPD_uc010xrr.2_Silent_p.L48L	NM_000285	NP_000276	P12955	PEPD_HUMAN	Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.	48					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCGCCCTGCAGGACCACGATG	0.662000														32			14		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185215	127185215	+	Missense_Mutation	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:127185215T>C	uc004eum.3	-	0	1168	c.971A>G	c.(970-972)aAa>aGa	p.K324R		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	324						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGGAGTACCTTTGGAAGCCAG	0.498000														22			31		0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32910037	32910037	+	Silent	SNP	A	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:32910037A>C	uc003tdb.2	-	3	1451	c.792T>G	c.(790-792)acT>acG	p.T264T	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	264										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TTTCCTCTTTAGTCATCCCAA	0.408000														35			29		0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158059362	158059362	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:158059362G>A	uc001frn.4	+	8	1519	c.1115G>A	c.(1114-1116)cGg>cAg	p.R372Q	KIRREL_uc010pib.2_Missense_Mutation_p.R272Q|KIRREL_uc009wsq.3_Missense_Mutation_p.R208Q|KIRREL_uc001fro.4_Missense_Mutation_p.R186Q	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	372	Ig-like C2-type 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACACCTGCCGGGCCATCGTG	0.657000														100			26		0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7082956	7082956	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:7082956C>T	uc002mga.3	+	7	979	c.494C>T	c.(493-495)tCt>tTt	p.S165F	ZNF557_uc002mgb.3_Missense_Mutation_p.S158F|ZNF557_uc002mgc.3_Missense_Mutation_p.S165F	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AGCACAAAATCTTCCCTTACA	0.403000														51			14		0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135776203	135776204	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:135776203_135776204GG>AA	uc004cca.2	-	19	2757_2758	c.2523_2524CC>TT	c.(2521-2526)gtccag>gtTTag	p.Q842*	TSC1_uc004ccb.3_Nonsense_Mutation_p.Q841*|TSC1_uc011mcq.1_Nonsense_Mutation_p.Q791*|TSC1_uc011mcr.2_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	842					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATCTGCTGCTGGACCGACTCAC	0.446000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					86			13		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884069	24884069	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:24884069G>A	uc001isb.2	-	19	4250	c.3763C>T	c.(3763-3765)Cgt>Tgt	p.R1255C	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1254	Rho-GAP.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTTTCAGACGATCTAGAGGA	0.303000														24			6		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81637125	81637125	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:81637125C>T	uc021ssk.1	-	12	1500	c.1500G>A	c.(1498-1500)tgG>tgA	p.W500*	TMC3_uc021ssj.1_Nonsense_Mutation_p.W500*|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Nonsense_Mutation_p.W500*	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	500						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CGTATGTCTCCCAGCACTGGT	0.498000														35			12		0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820708	55820708	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:55820708G>A	uc010spm.2	+	0	671	c.671G>A	c.(670-672)aGa>aAa	p.R224K		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACTATTCTGAGAATCCCCTCA	0.373000														25			8		0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316497	203316497	+	Missense_Mutation	SNP	G	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:203316497G>T	uc001gzr.3	-	1	1038	c.902C>A	c.(901-903)tCc>tAc	p.S301Y		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	301					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTGGTTGTAGGAGAGGTCTAG	0.547000														95			98		9.98717e-52	1.00988e-51	1	1	0
MED12L	116931	broad.mit.edu	37	3	151107868	151107868	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:151107868C>T	uc003eyp.3	+	35	5577	c.5448C>T	c.(5446-5448)ctC>ctT	p.L1816L	MED12L_uc011bnz.2_Silent_p.L1676L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1816					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.L1816H(1)		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)			GTTACAACCTCGTGGGCCAGC	0.498000														187			41		0	0	1	0	0
C21orf128	150147	broad.mit.edu	37	21	43523900	43523900	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr21:43523900C>T	uc002zak.2	-	1	485	c.333G>A	c.(331-333)tgG>tgA	p.W111*	UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Intron|UMODL1_uc002zaf.1_Intron|UMODL1_uc002zag.1_Intron|UMODL1_uc010gow.1_Intron|UMODL1_uc002zai.1_Intron|UMODL1_uc010gox.1_Intron|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Intron|UMODL1_uc010goz.1_Intron					Homo sapiens chromosome 21 open reading frame 128 (C21orf128), non-coding RNA.											lung(4)	4						CAAGCACCATCCATCGGTCAC	0.542000														6			6		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14859208	14859208	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:14859208G>A	uc003zlm.3	-	4	1420	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	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.	202					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.Q202*(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)		CTGTGTGGCTGATCTCCACGA	0.517000														24			19		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46288494	46288494	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr13:46288494C>T	uc001van.1	+	2	1414	c.1334C>T	c.(1333-1335)cCt>cTt	p.P445L	SPERT_uc001vao.2_Missense_Mutation_p.P409L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	445						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCAAGAAGCCTAGCAGGGTC	0.622000														6			5		0	0	1	0	0
LOC100499484	100499484	broad.mit.edu	37	9	100053789	100053789	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:100053789C>T	uc011luu.2	+	5	610	c.540C>T	c.(538-540)atC>atT	p.I180I	C9orf174_uc011lur.2_Intron|C9orf174_uc011lut.2_Intron|C9orf174_uc004axe.2_Intron|C9orf174_uc011lus.2_Intron|C9orf174_uc010msm.1_Intron					Homo sapiens SUGT1-1300002K09Rik pseudogene (LOC100499484), non-coding RNA.																		GGGCGGGTATCCTGTCATTGA	0.562000														41			16		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78444685	78444685	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:78444685C>T	uc001syp.3	+	10	2447	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	NAV3_uc001syo.3_Silent_p.S758S|NAV3_uc010sub.2_Silent_p.S258S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	758						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S758Y(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGCTCCCTCCCTGGGTGCTG	0.582000										HNSCC(70;0.22)				32			15		0	0	1	0	0
TMEM56	148534	broad.mit.edu	37	1	95639398	95639398	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:95639398G>A	uc021oqe.1	+	5	802	c.426G>A	c.(424-426)ggG>ggA	p.G142G	TMEM56_uc001drd.4_Silent_p.G142G|AK090700_uc001dre.1_Intron|TMEM56_uc001drb.3_Silent_p.G142G	NM_001199679	NP_001186608	Q96MV1	TMM56_HUMAN	Homo sapiens transmembrane protein 56 (TMEM56), transcript variant 1, mRNA.	142	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CATACATTGGGAATTTTCGCC	0.353000														65			12		0	0	1	0	0
HBA1	3039	broad.mit.edu	37	16	227324	227324	+	Missense_Mutation	SNP	C	T	T	rs63751114		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:227324C>T	uc002cfx.1	+	2	380	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S		NM_000558	NP_000549	P69905	HBA_HUMAN	Homo sapiens hemoglobin, alpha 1 (HBA1), mRNA.	115			P -> L (in Nouakchott).|P -> R (in Chiapas).|P -> S (in Melusine).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			lung(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	CGCCCACCTCCCCGCCGAGTT	0.677000											OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		25			6		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729662	88729662	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:88729662G>A	uc001xwm.3	-	1	408	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	KCNK10_uc001xwn.3_Missense_Mutation_p.R96W|KCNK10_uc001xwo.3_Missense_Mutation_p.R91W	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	91					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R96W(1)|p.R91W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCCAATGCCCGGAAGACAAGA	0.572000														64			13		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955852	51955852	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51955852G>A	uc002pwt.3	-	6	1348	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	SIGLEC8_uc010yda.2_Silent_p.P318P|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Silent_p.P334P	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	427					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTTCTTCAGGGGGTTGCCAT	0.592000														35			12		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160104985	160104985	+	Missense_Mutation	SNP	C	T	T	rs145701604		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:160104985C>T	uc001fvc.3	+	14	2147	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	ATP1A2_uc001fvb.2_Missense_Mutation_p.S672L|ATP1A2_uc001fvd.3_Missense_Mutation_p.S408L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	672					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GACATGACATCGGAGCAGCTC	0.577000														56			75		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537058	65537058	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:65537058G>A	uc003xvj.2	-	1	365	c.161C>T	c.(160-162)cCt>cTt	p.P54L		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	54					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCCAAGATAAGGAAGCCAACC	0.373000														82			35		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111430824	111430824	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:111430824C>T	uc003iab.4	+	4	1397	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	352					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.I351T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATCGCTATTCCAGATTTTGGC	0.393000														56			20		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75558041	75558041	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:75558041G>A	uc001jvj.3	+	19	4246	c.3991G>A	c.(3991-3993)Gat>Aat	p.D1331N	KIAA0913_uc001jve.3_Missense_Mutation_p.D1336N|KIAA0913_uc009xrl.3_Missense_Mutation_p.D1331N|KIAA0913_uc001jvf.3_Missense_Mutation_p.D1331N|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.D766N|KIAA0913_uc010qkr.2_Missense_Mutation_p.D754N|KIAA0913_uc009xrn.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1331							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					AGAATGCTGGGATGGGCACCT	0.602000														37			8		0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67271590	67271590	+	Missense_Mutation	SNP	G	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:67271590G>T	uc002esl.3	-	6	836	c.724C>A	c.(724-726)Cgt>Agt	p.R242S	FHOD1_uc010ced.3_Missense_Mutation_p.R49S|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	242	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TTCACTGCACGGATGAACAGC	0.572000														49			24		1.77063e-15	1.78599e-15	1	1	0
DCLK3	85443	broad.mit.edu	37	3	36778804	36778804	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:36778804G>A	uc003cgi.2	-	1	1838	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	449	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGGCTCCGGGAACTTCACAC	0.512000														46			15		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559336	140559336	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140559336C>T	uc011dai.2	+	0	1966	c.1721C>T	c.(1720-1722)aCc>aTc	p.T574I	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	574	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCCCTGCACCGAGCTGGTG	0.701000														185			10		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119129970	119129970	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:119129970C>T	uc004bjn.3	+	18	4923	c.4542C>T	c.(4540-4542)atC>atT	p.I1514I	PAPPA_uc011lxq.2_Silent_p.I889I	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1514	Sushi 5.				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						GCGAGTCCATCATCCTGCCAA	0.607000														22			7		0	0	1	0	0
SLC25A28	81894	broad.mit.edu	37	10	101370931	101370931	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:101370931C>T	uc001kpx.2	-	3	899	c.770G>A	c.(769-771)aGa>aAa	p.R257K	SLC25A28_uc021pwy.1_Missense_Mutation_p.R69K|SLC25A28_uc021pwz.1_Missense_Mutation_p.R102K|SLC25A28_uc001kpy.2_Missense_Mutation_p.R70K	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	Homo sapiens solute carrier family 25, member 28 (SLC25A28), mRNA.	257					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GTTGTACCGTCTCTGGGGGTT	0.542000														63			18		0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47289519	47289520	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:47289519_47289520GG>AA	uc010hjp.3	-	11	1720_1721	c.1116_1117CC>TT	c.(1114-1119)atccat>atTTat	p.H373Y	KIF9_uc003cqx.3_Missense_Mutation_p.H373Y|KIF9_uc003cqy.3_Missense_Mutation_p.H373Y|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	373					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGGCTGTCATGGATAGCCAGCT	0.574000														193			33		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36211905	36211905	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:36211905C>T	uc021usv.1	+	2	1656	c.1656C>T	c.(1654-1656)ccC>ccT	p.P552P	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	679	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AAGACCCCCCCAAACCCCCAA	0.592000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				10			6		0	0	1	0	0
KIAA1383	54627	broad.mit.edu	37	1	232942095	232942095	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:232942095C>T	uc001hvh.2	+	0	1458	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	300										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				ATATATTTTGCCCTCCTCCTT	0.443000														154			193		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038955	17038955	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:17038955G>A	uc002nfb.3	-	24	3407	c.3375C>T	c.(3373-3375)tcC>tcT	p.S1125S		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1078						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCCAGCCGGTGGAAAAGCCAA	0.597000														76			17		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631945	9631945	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:9631945C>T	uc010cod.3	+	14	3010	c.3010C>T	c.(3010-3012)Cgg>Tgg	p.R1004W	USP43_uc002gma.4_Missense_Mutation_p.R693W|USP43_uc010vva.2_Missense_Mutation_p.R999W|USP43_uc010coe.3_Missense_Mutation_p.R801W|USP43_uc002gmc.4_Missense_Mutation_p.R516W	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	1004					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTCCGTGTTTCGGAAGAAGGA	0.602000														36			7		0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66845596	66845596	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:66845596C>T	uc002aqc.3	-	9	1055	c.923_splice	c.e9-1	p.G308_splice	LCTL_uc002aqd.4_Splice_Site_p.G135_splice|LCTL_uc010bhw.3_Splice_Site_p.G6_splice	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	308					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTCTTTCTTCCTTTTGAGAG	0.428000														95			29		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43924767	43924767	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:43924767G>A	uc003bdy.2	-	31	4786	c.4472C>T	c.(4471-4473)tCc>tTc	p.S1491F	EFCAB6_uc003bdz.2_Missense_Mutation_p.S1339F|EFCAB6_uc010gzi.2_Missense_Mutation_p.S1339F	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1491	EF-hand 17.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTCGTTGTAGGAGATTTTTGA	0.498000														97			69		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142120278	142120278	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142120278C>T	uc022anf.1	-	0	73	c.44G>A	c.(43-45)gGg>gAg	p.G15E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Missense_Mutation_p.G15E					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCACCTGTCCCTAGGAAACC	0.488000														139			81		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256633	140256633	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140256633G>A	uc003lic.2	+	0	1703	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	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_uc011daf.2_Missense_Mutation_p.E526K	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	540	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)			GCTAGACCACGAGGAGCTGGA	0.692000														165			45		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989708	47989708	+	Missense_Mutation	SNP	A	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr20:47989708A>T	uc002xur.1	-	1	2555	c.2389T>A	c.(2389-2391)Ttt>Att	p.F797I	KCNB1_uc002xus.1_Missense_Mutation_p.F797I	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	797					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGCTTTCAAAGTGGTTTTTC	0.532000														278			61		0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38288067	38288067	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:38288067C>T	uc001cce.1	-	8	1634	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	MTF1_uc009vvj.1_Missense_Mutation_p.G189E	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	498						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AACAGAAAGTCCTGGTACAAT	0.572000														27			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249970	140249970	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140249970G>A	uc003lia.2	+	0	2140	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	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.D428N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	443	Cadherin 4.				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)			GACTGCGCGGGATGGGGGTTC	0.622000														189			44		0	0	1	0	0
AK300121	0	broad.mit.edu	37	12	52648148	52648148	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:52648148C>T	uc010snr.1	-	4	484	c.136_splice	c.e4-1	p.D46_splice	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		CAGTCCACATCCTAAAGGGGA	0.562000														38			10		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284287	159284287	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:159284287G>A	uc010piu.2	-	0	163	c.163C>T	c.(163-165)Cat>Tat	p.H55Y		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H55Y(2)|p.H55D(2)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTGTGAAGATGATGGTCCAGG	0.468000														136			134		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48387042	48387042	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:48387042C>T	uc002phr.2	-	2	277	c.137_splice	c.e2-1	p.G46_splice		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	46					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CCAGTTTGTTCCTGGAAAAAG	0.507000														31			4		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196227451	196227451	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:196227451G>A	uc001gtd.1	-	25	3144	c.3084C>T	c.(3082-3084)caC>caT	p.H1028H	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.H961H|KCNT2_uc001gtf.1_Silent_p.H1004H|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Silent_p.H532H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1028						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						TTTTACCAGAGTGTTTTGGGC	0.478000														76			11		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450125	105450125	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:105450125G>A	uc022cca.1	+	0	700	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	MUM1L1_uc004emg.2_Missense_Mutation_p.E234K|MUM1L1_uc004emf.2_Missense_Mutation_p.E234K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	234										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTTAAAGATGAAAAGTTTGC	0.408000														15			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048527	9048527	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:9048527G>A	uc002mkp.3	-	4	33308	c.33104C>T	c.(33103-33105)tCa>tTa	p.S11035L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11037	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						TACCTCAGGTGAAACAGTTGG	0.483000														72			22		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025044	130025044	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:130025044C>T	uc003vpx.3	+	7	917	c.845C>T	c.(844-846)tCc>tTc	p.S282F	CPA1_uc003vpw.2_Missense_Mutation_p.S116F	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	282					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TTTGCCAATTCCGAAGTGGAG	0.562000														98			23		0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73916502	73916502	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:73916502G>A	uc002jqc.3	-	16	1912	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.L537L|FBF1_uc002jqd.1_Silent_p.L547L|FBF1_uc002jqb.3_5'Flank|FBF1_uc010dgr.2_5'UTR	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	546										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGGACTCTGGGAGCAGGGGCT	0.632000														10			10		0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31493300	31493300	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:31493300C>T	uc003ajl.2	+	15	2376	c.2135C>T	c.(2134-2136)tCc>tTc	p.S712F	SMTN_uc003ajk.2_Missense_Mutation_p.S712F|SMTN_uc003ajm.2_Missense_Mutation_p.S712F|SMTN_uc011ale.2_Missense_Mutation_p.S797F|SMTN_uc011alf.2_Missense_Mutation_p.S768F|SMTN_uc003ajn.2_Missense_Mutation_p.S735F|SMTN_uc011alg.2_Missense_Mutation_p.S168F|SMTN_uc003ajo.2_Missense_Mutation_p.S235F|SMTN_uc010gwe.2_Missense_Mutation_p.S92F	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	712	Poly-Ser.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TTCTCCTCTTCCTCCTCATCC	0.557000														80			92		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90322045	90322045	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:90322045C>T	uc004apc.3	+	25	4197	c.4059C>T	c.(4057-4059)ttC>ttT	p.F1353F	DAPK1_uc004apd.3_Silent_p.F1353F|DAPK1_uc011ltg.2_Silent_p.F1287F|DAPK1_uc011lth.2_Silent_p.F1090F|DAPK1_uc004apg.2_Silent_p.F330F	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	1353	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAAGGATTTCCTCCCCAGCC	0.637000									Chronic Lymphocytic Leukemia, Familial Clustering of					45			42		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462079	5462079	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:5462079C>T	uc010qze.2	-	0	705	c.666G>A	c.(664-666)ttG>ttA	p.L222L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCAGGATCAATGCGTAGG	0.468000														28			5		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192462	66192462	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:66192462G>A	uc001ohx.1	+	6	2277	c.2101G>A	c.(2101-2103)Gat>Aat	p.D701N	NPAS4_uc010rpc.1_Missense_Mutation_p.D491N	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	701					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGCTGACCCTGATAACATGTT	0.592000														118			31		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144750811	144750811	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:144750811C>T	uc003qkt.3	+	7	881	c.789C>T	c.(787-789)atC>atT	p.I263I	UTRN_uc010khq.1_Silent_p.I263I	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	263					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TAGACGCCATCCGTGAGGTAG	0.373000														32			18		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401166	10401166	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10401166G>A	uc002gmo.3	-	30	4344	c.4250C>T	c.(4249-4251)tCc>tTc	p.S1417F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1417						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						CTTCTCAAGGGAAGCACATTT	0.478000														65			21		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516761	195516761	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:195516761G>A	uc021xjp.1	-	1	1846	c.1690C>T	c.(1690-1692)Cag>Tag	p.Q564*	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Nonsense_Mutation_p.Q446*	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	569					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.Q564K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CATTGTGTCTGGGCGCCTGCC	0.552000														239			68		0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029610	219029610	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:219029610G>A	uc021vwq.1	-	0	325	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	CXCR1_uc002vhc.3_Silent_p.L109L	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	109					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						ACCTTGCACAGGAATGTGCCA	0.557000														63			24		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182852725	182852725	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:182852725C>T	uc001gpr.3	+	25	3390	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	DHX9_uc001gps.3_Missense_Mutation_p.S858F|DHX9_uc001gpt.3_Missense_Mutation_p.S351F|DHX9_uc009wyd.3_Missense_Mutation_p.S37F	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1072					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CTCTTTGCCTCCAAGAAAGTC	0.413000														173			18		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501930	150501930	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:150501930G>A	uc003whx.1	+	6	760	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K		NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	228						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACCAGAAGGAAATGTTGGA	0.522000														89			52		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653852	159653852	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:159653852C>T	uc010kjv.3	+	10	2508	c.2308C>T	c.(2308-2310)Cat>Tat	p.H770Y	FNDC1_uc010kjw.1_Missense_Mutation_p.H655Y	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	770	Ser-rich.					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)		CGTCTCTTCTCATCTCTCGTC	0.627000														29			10		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164764781	164764781	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:164764781G>A	uc003fei.3	-	15	1798	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	579	Isomaltase.				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)	CTCTTATTAGGAAAAACTTTT	0.303000										HNSCC(35;0.089)				19			7		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50094366	50094366	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:50094366C>T	uc004dox.4	+	11	4385	c.4087C>T	c.(4087-4089)Cac>Tac	p.H1363Y	CCNB3_uc004doy.3_Missense_Mutation_p.H1363Y|CCNB3_uc004doz.3_Missense_Mutation_p.H259Y|CCNB3_uc010njq.3_Missense_Mutation_p.H255Y|CCNB3_uc004dpa.3_Missense_Mutation_p.H202Y	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1363					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAAGTATTCTCACCCGTAAGT	0.433000														68			59		0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16470905	16470906	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:16470905_16470906GG>AA	uc021trd.1	-	1	758_759	c.140_141CC>TT	c.(139-141)acc>aTT	p.T47I	ZNF287_uc002gqi.2_Missense_Mutation_p.T47I	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	40	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCTGTCGACAGGTCTCAGTGTC	0.475000														81			18		0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189731	58189731	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:58189731C>T	uc002qpu.3	+	4	1457	c.760C>T	c.(760-762)Cag>Tag	p.Q254*		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	254					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCTAGATCTCAGGAAGGGTC	0.507000														41			15		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322300	79322300	+	Silent	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:79322300A>G	uc010mpk.3	-	7	5014	c.4890T>C	c.(4888-4890)gaT>gaC	p.D1630D	PRUNE2_uc022bih.1_Silent_p.D1452D	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1630					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGGAATCACCATCAACTGAGT	0.378000														16			15		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28378750	28378750	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:28378750G>A	uc001iua.1	-	13	1377	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R325C|MPP7_uc009xla.2_Missense_Mutation_p.R325C|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	325					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTACTAAGACGAAAACTTTTT	0.318000														45			12		0	0	1	0	0
TMEM89	440955	broad.mit.edu	37	3	48659055	48659055	+	Silent	SNP	C	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:48659055C>A	uc011bbo.2	-	0	135	c.135G>T	c.(133-135)gtG>gtT	p.V45V		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	Homo sapiens transmembrane protein 89 (TMEM89), mRNA.	45						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)		TACAGCCCTCCACACTCTTTG	0.657000														47			13		0.00244969	0.00245573	1	1	0
PRKD1	5587	broad.mit.edu	37	14	30095735	30095735	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:30095735G>A	uc001wqh.3	-	11	1934	c.1753C>T	c.(1753-1755)Cct>Tct	p.P585S	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	585	Protein kinase.		P -> S (in a metastatic melanoma sample; somatic mutation).		cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.P585S(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACTTCATCAGGAAAAATCTGA	0.313000														53			11		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31962437	31962437	+	Missense_Mutation	SNP	T	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:31962437T>G	uc011doy.2	+	20	2806	c.2755T>G	c.(2755-2757)Ttc>Gtc	p.F919V	C4B_uc011doz.2_Missense_Mutation_p.F919V	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	919					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TCGAGGGTCCTTCGAATTCCC	0.627000														134			7		0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75583414	75583414	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:75583414C>T	uc003udy.3	+	1	186	c.104C>T	c.(103-105)tCg>tTg	p.S35L		NM_000941	NP_000932	P16435	NCPR_HUMAN	Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA.	32					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	NADPH-hemoprotein reductase activity|iron ion binding			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ATTCTGTTTTCGCTCATCGTG	0.502000														18			4		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94224666	94224666	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:94224666C>T	uc003kkx.2	-	11	1851	c.1851G>A	c.(1849-1851)agG>agA	p.R617R	MCTP1_uc003kkv.2_Silent_p.R396R|MCTP1_uc003kkw.2_Silent_p.R350R|MCTP1_uc003kkz.2_Silent_p.R278R|MCTP1_uc003kku.2_Silent_p.R133R	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	617	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R617S(4)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTGAAATATCCTCAATGGGC	0.423000														53			16		0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37879460	37879460	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:37879460G>A	uc010efk.1	+	4	620	c.509G>A	c.(508-510)aGa>aAa	p.R170K	ZNF527_uc002ogf.3_Missense_Mutation_p.R138K|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCTGGGAGAAGCATACCC	0.373000														56			16		0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155632257	155632257	+	Silent	SNP	A	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:155632257A>T	uc003faq.3	+	7	1271	c.936A>T	c.(934-936)atA>atT	p.I312I	GMPS_uc011bom.2_Silent_p.I213I	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	312					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCTACCAATATCAGATGAAG	0.353000			T	MLL	AML									72			18		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409245	105409245	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:105409245G>A	uc010axc.1	-	6	12663	c.12543C>T	c.(12541-12543)ctC>ctT	p.L4181L	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L4081L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4181						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTGAATGCTGAGGTCAGTGG	0.652000														247			68		0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23959838	23959838	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:23959838G>A	uc002zxf.3	-	6	741	c.443C>T	c.(442-444)tCt>tTt	p.S148F		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	148	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GTTGTCCTCAGAAGAACCTGG	0.473000														50			23		0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25364920	25364920	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:25364920C>T	uc003xep.1	+	14	3215	c.2738C>T	c.(2737-2739)cCt>cTt	p.P913L	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.P898L|CDCA2_uc003xer.1_Missense_Mutation_p.P576L	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	913					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTTCCACTTCCTTCCACTTCC	0.408000														148			59		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29410813	29410813	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:29410813G>A	uc002kxc.4	-	28	4577	c.4213C>T	c.(4213-4215)Cct>Tct	p.P1405S	TRAPPC8_uc002kxb.4_Missense_Mutation_p.P1351S|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	1405					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATACCCTAGGAGTTCCAAGG	0.413000														44			13		0	0	1	0	0
PSMC6	5706	broad.mit.edu	37	14	53185031	53185031	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:53185031C>T	uc010tqx.2	+	8	718	c.718C>T	c.(718-720)Caa>Taa	p.Q240*	PSMC6_uc010tqw.2_3'UTR	NM_002806	NP_002797	P62333	PRS10_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 6 (PSMC6), mRNA.	226					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 complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TAGAGATCATCAACCATGCAT	0.303000														48			7		0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59059032	59059032	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:59059032G>A	uc002qtg.1	+	4	1080	c.791G>A	c.(790-792)gGg>gAg	p.G264E	TRIM28_uc010eut.1_Missense_Mutation_p.G182E|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	264	Leucine zipper alpha helical coiled-coil region.|RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AAGCGCCTTGGGGACAAACAT	0.572000														48			19		0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146157628	146157628	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:146157628G>A	uc003zet.3	-	3	732	c.545C>T	c.(544-546)cCa>cTa	p.P182L	ZNF16_uc003zeu.3_Missense_Mutation_p.P182L	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	182					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)		CATGTCATATGGATGTGGCCT	0.507000														135			66		0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36551576	36551576	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:36551576C>T	uc002hqa.3	+	7	1625	c.1504C>T	c.(1504-1506)Cct>Tct	p.P502S	SOCS7_uc010cvl.3_Missense_Mutation_p.P468S|SOCS7_uc002hqb.3_Intron	NM_014598	NP_055413	O14512	SOCS7_HUMAN	Homo sapiens suppressor of cytokine signaling 7 (SOCS7), mRNA.	502	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	SH3 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GCCACCAACTCCTGTCCAGCT	0.468000														38			13		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69046463	69046463	+	Silent	SNP	G	A	A	rs140035238	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:69046463G>A	uc003xxv.1	+	31	3963	c.3936G>A	c.(3934-3936)gcG>gcA	p.A1312A		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1312					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCAGATAGCGAATGCAGGTG	0.483000														65			12		0	0	1	0	0
KIAA1383	54627	broad.mit.edu	37	1	232943714	232943714	+	Missense_Mutation	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:232943714T>C	uc001hvh.2	+	0	3077	c.2945T>C	c.(2944-2946)tTa>tCa	p.L982S		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	840										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				TGGAAATCTTTAGAAAAAAGC	0.368000														113			127		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1049425	1049425	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:1049425G>A	uc002lqw.4	+	17	2772	c.2541G>A	c.(2539-2541)aaG>aaA	p.K847K	ABCA7_uc010dsb.1_Silent_p.K709K	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	847	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.G846C(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCGGCAAGACCACCACCC	0.716000														38			14		0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46987054	46987054	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:46987054C>T	uc021vgx.1	+	0	1385	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	SOCS5_uc002rvf.3_Missense_Mutation_p.P462L|SOCS5_uc002rvg.3_Missense_Mutation_p.P462L	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	462	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TATAAAGATCCCAGTTCGTGC	0.433000														84			16		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86087990	86087990	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:86087990G>A	uc021rxf.1	+	0	132	c.132G>A	c.(130-132)agG>agA	p.R44R	FLRT2_uc001xvr.3_Silent_p.R44R|FLRT2_uc010atd.3_Silent_p.R44R	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	44	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.D43N(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCTGCGACAGGAACTTTGTCT	0.507000														111			32		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003792	122003792	+	Silent	SNP	C	T	T	rs142305357		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:122003792C>T	uc003eew.4	+	6	3459	c.3021C>T	c.(3019-3021)tcC>tcT	p.S1007S	CASR_uc003eev.4_Silent_p.S997S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	997					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	p.S997S(1)		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)	ACCAGAACTCCCTGGAGGCCC	0.567000														47			13		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348413	140348413	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140348413C>T	uc003lii.3	+	0	2667	c.2062C>T	c.(2062-2064)Ctc>Ttc	p.L688F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.L688F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	688	Cadherin 6.				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)			TTCCAAAATCCTCCCTGACAC	0.438000														45			11		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331620	85331620	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:85331620G>A	uc001dkl.2	-	0	223	c.184C>T	c.(184-186)Cat>Tat	p.H62Y	LPAR3_uc009wcj.1_Missense_Mutation_p.H62Y	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	62					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGGGGAAATGAAATTTTCTG	0.393000														98			28		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114031317	114031317	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:114031317C>T	uc003ynu.3	-	5	1168	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	CSMD3_uc003ynt.3_Missense_Mutation_p.G297R|CSMD3_uc011lhx.2_Missense_Mutation_p.G337R|CSMD3_uc010mcx.1_Missense_Mutation_p.G337R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	337	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCACTAAATCCACGGTATCGA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				73			30		0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12243715	12243715	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:12243715C>T	uc002mtg.2	-	7	1868	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	ZNF20_uc002mte.2_Missense_Mutation_p.G394E|ZNF20_uc002mtf.2_Missense_Mutation_p.G429E|ZNF20_uc021upm.1_Missense_Mutation_p.G426E	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GAATGCTTTTCCACATTGCTT	0.403000														43			11		0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569579	248569579	+	Missense_Mutation	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:248569579T>C	uc010pzm.2	+	0	284	c.284T>C	c.(283-285)aTg>aCg	p.M95T		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATGGGGTTATGATCTTCCTG	0.428000														97			105		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56702267	56702267	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:56702267C>T	uc010ygh.2	-	2	678	c.678G>A	c.(676-678)aaG>aaA	p.K226K		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	226					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCCTGTTTTCCTTCAGATCCT	0.512000														55			20		0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99183532	99183532	+	Missense_Mutation	SNP	C	T	T	rs143969442	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:99183532C>T	uc001yfz.2	+	3	718	c.299C>T	c.(298-300)tCg>tTg	p.S100L		NM_182560	NP_872366	Q52M58	CN177_HUMAN	Homo sapiens chromosome 14 open reading frame 177 (C14orf177), mRNA.	100								p.A99G(1)|p.A99V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				ATGTCTGCTTCGACCATCTCT	0.413000														58			11		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884054	205884054	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:205884054G>A	uc001hdp.3	-	21	2744	c.2630C>T	c.(2629-2631)tCg>tTg	p.S877L	SLC26A9_uc001hdm.3_Missense_Mutation_p.S124L|SLC26A9_uc001hdn.3_Missense_Mutation_p.S124L|SLC26A9_uc001hdo.3_3'UTR|SLC26A9_uc001hdq.3_3'UTR	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	0						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ATCTGACACCGAGCCGTGTGG	0.527000														210			24		0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23242856	23242856	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:23242856C>T	uc001wgr.4	-	9	1637	c.1499G>A	c.(1498-1500)gGa>gAa	p.G500E	SLC7A7_uc001wgs.4_Missense_Mutation_p.G500E|SLC7A7_uc001wgt.4_Missense_Mutation_p.G500E|SLC7A7_uc001wgu.4_Missense_Mutation_p.G500E|SLC7A7_uc001wgv.4_Missense_Mutation_p.G500E	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	500					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GGGCATCTCTCCTCCATCTTC	0.473000														52			12		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435015	10435015	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:10435015C>T	uc010coi.3	-	21	2760	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E878K|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.	878					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E878G(1)		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						TCTTCCAGTTCCTTCCTTTTT	0.423000														76			16		0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51462448	51462448	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:51462448C>T	uc002puh.3	-	4	799	c.734G>A	c.(733-735)tGg>tAg	p.W245*	KLK6_uc010eoj.3_Missense_Mutation_p.G108R|KLK6_uc002pui.3_Nonsense_Mutation_p.W236*|KLK6_uc002puj.3_Nonsense_Mutation_p.W129*|KLK6_uc010ycn.2_Nonsense_Mutation_p.W129*|KLK6_uc002pul.3_Nonsense_Mutation_p.W236*|KLK6_uc002pum.3_Nonsense_Mutation_p.W129*	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	236					amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTTTTGGATCCAGTTCGTGTA	0.542000														107			36		0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155632259	155632259	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:155632259C>T	uc003faq.3	+	7	1273	c.938C>T	c.(937-939)tCa>tTa	p.S313L	GMPS_uc011bom.2_Missense_Mutation_p.S214L	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	313					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTACCAATATCAGATGAAGAT	0.353000			T	MLL	AML									71			18		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609888	117609888	+	Missense_Mutation	SNP	C	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:117609888C>G	uc003pxp.1	-	42	7010	c.6811G>C	c.(6811-6813)Ggg>Cgg	p.G2271R	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2271					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E2270K(1)|p.G2271E(1)	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)		TAGTTTAACCCTTCTCGGTTC	0.408000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									33			16		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830697	61830697	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:61830697G>A	uc001jky.3	-	36	10280	c.9942C>T	c.(9940-9942)gtC>gtT	p.V3314V	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.	3314					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						TTGAATCACTGACGTCTGCCC	0.438000														94			21		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216647	170216647	+	Missense_Mutation	SNP	G	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:170216647G>T	uc003fgz.2	-	3	884	c.568C>A	c.(568-570)Ctt>Att	p.L190I	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	190						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGAGCCAGAAGGTCTGGGTAT	0.493000														55			19		1.01871e-10	1.02628e-10	1	1	0
CD1E	913	broad.mit.edu	37	1	158323802	158323802	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:158323802C>T	uc001fse.3	+	0	317	c.24C>T	c.(22-24)ttC>ttT	p.F8F	CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_Silent_p.F8F|CD1E_uc001fsh.3_Silent_p.F8F|CD1E_uc001fry.3_Silent_p.F8F|CD1E_uc001fsf.3_Silent_p.F8F|CD1E_uc001fsg.3_Silent_p.F8F|CD1E_uc009wsv.3_Silent_p.F8F|CD1E_uc001fsj.3_Silent_p.F8F|CD1E_uc001fsk.3_Silent_p.F8F|CD1E_uc001fsa.3_Silent_p.F8F|CD1E_uc001fsd.3_Silent_p.F8F|CD1E_uc001frz.3_Silent_p.F8F|CD1E_uc010pig.2_Silent_p.F8F|CD1E_uc001fsc.3_Silent_p.F8F|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.	8					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.F8L(2)		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)					TCCTCCTCTTCGAGGGTCTCT	0.522000														63			34		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155212306	155212306	+	Splice_Site	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:155212306C>T	uc021xge.1	-	15	2136	c.1859_splice	c.e15-1	p.G620_splice	PLCH1_uc021xgd.1_Splice_Site_p.G620_splice|PLCH1_uc021xgf.1_Splice_Site_p.G602_splice	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	620	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCTGTGGTTCCTGGCAGTTT	0.363000														40			12		0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76399844	76399844	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:76399844C>T	uc002jvm.3	+	6	1088	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Missense_Mutation_p.P72L|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_Missense_Mutation_p.P72L	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	359					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CAGATGAAGCCCTTCGAGATT	0.537000														96			21		0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454085	6454085	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:6454085G>A	uc002mex.1	-	6	952	c.810C>T	c.(808-810)atC>atT	p.I270I	SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_Silent_p.I87I	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	270					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GCTGCCCCAGGATGGCCCTCT	0.582000														23			8		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139696702	139696702	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:139696702C>T	uc003yvd.3	-	38	3425	c.2978G>A	c.(2977-2979)gGa>gAa	p.G993E	COL22A1_uc011ljo.2_Missense_Mutation_p.G293E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	993	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCAGGTGATCCACGGAGTCC	0.512000										HNSCC(7;0.00092)				99			50		0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18070826	18070826	+	Silent	SNP	C	T	T	rs140762646	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:18070826C>T	uc002zmp.1	+	8	1205	c.711C>T	c.(709-711)gtC>gtT	p.V237V	SLC25A18_uc010gqx.3_Silent_p.V237V|SLC25A18_uc002zmq.1_Silent_p.V237V	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA.	237						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	TAGCTGCGGTCGCAGTGACGC	0.507000														68			13		0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110146467	110146467	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:110146467G>A	uc003ptt.2	+	22	2938	c.2723G>A	c.(2722-2724)tGa>tAa	p.*908*	FIG4_uc011eau.1_Silent_p.*602*	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	0					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CGCTACCTGTGAAAAGAGCGC	0.488000														30			9		0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114308958	114308958	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:114308958G>A	uc001edq.3	-	6	2089	c.2053C>T	c.(2053-2055)Cag>Tag	p.Q685*	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	685						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)		GTTTTGAACTGATGAATGACA	0.428000														91			28		0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110763674	110763674	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:110763674C>T	uc003hzv.3	+	5	804	c.770C>T	c.(769-771)tCc>tTc	p.S257F		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	257					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TCCCCTTATTCCATCGTGTGC	0.398000														98			23		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38674644	38674644	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:38674644G>A	uc021wvo.1	-	0	207	c.155C>T	c.(154-156)cCc>cTc	p.P52L	SCN5A_uc021wvk.1_Missense_Mutation_p.P52L|SCN5A_uc021wvl.1_Missense_Mutation_p.P52L|SCN5A_uc021wvm.1_Missense_Mutation_p.P52L|SCN5A_uc021wvn.1_Missense_Mutation_p.P52L|SCN5A_uc021wvp.1_Missense_Mutation_p.P52L|SCN5A_uc021wvq.1_Missense_Mutation_p.P52L|SCN5A_uc021wvr.1_Missense_Mutation_p.P52L|SCN5A_uc021wvs.1_Missense_Mutation_p.P52L|SCN5A_uc021wvt.1_Missense_Mutation_p.P52L|SCN5A_uc021wvu.1_Missense_Mutation_p.P52L|SCN5A_uc021wvv.1_Missense_Mutation_p.P52L|SCN5A_uc021wvx.1_Missense_Mutation_p.P55S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	52					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGGGCCGGGGAGCCTCCTC	0.657000														20			5		0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14681702	14681703	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:14681702_14681703CC>TT	uc003jfk.3	+	3	606_607	c.454_455CC>TT	c.(454-456)ccg>TTg	p.P152L		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	Homo sapiens family with sequence similarity 105, member B (FAM105B), mRNA.	152										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					GCTGCAGGACCCGGAGCTCATG	0.545000														26			5		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74307761	74307761	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:74307761G>A	uc010wtb.1	-	9	932	c.711C>T	c.(709-711)gtC>gtT	p.V237V	PRPSAP1_uc010wta.1_Silent_p.V340V	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	311					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CCTCATGAGGGACAGTATTCG	0.438000														74			14		0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	484802	484802	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:484802G>A	uc003jbe.2	-	4	877	c.765C>T	c.(763-765)ttC>ttT	p.F255F	SLC9A3_uc011clx.1_Silent_p.F255F	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	255						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCTCACCACGAAGAAGGACA	0.682000														74			22		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691222	26691222	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:26691222C>T	uc001bmg.1	-	3	933	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	ZNF683_uc001bmh.1_Missense_Mutation_p.R272Q|ZNF683_uc009vsj.1_Missense_Mutation_p.R272Q	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ACCTGGATTTCGGGCCTGGGA	0.652000														67			18		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10940873	10940874	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10940873_10940874AC>TT	uc002mpt.2	+	19	2552_2553	c.2362_2363AC>TT	c.(2362-2364)act>TTt	p.T788F	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.T788F|DNM2_uc010dxl.2_Missense_Mutation_p.T788F|DNM2_uc002mpu.2_Missense_Mutation_p.T784F|DNM2_uc002mpv.2_Missense_Mutation_p.T784F|DNM2_uc002mpw.3_Missense_Mutation_p.T517F|DNM2_uc002mpx.1_Missense_Mutation_p.T144F	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	788	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAGGGGCCCCACTCCAGGGCCC	0.693000			"""F, N, Splice, Mis, O"""		ETP ALL									89			34		0	0	1	0	0
DCTN5	84516	broad.mit.edu	37	16	23672551	23672551	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr16:23672551C>T	uc002dly.2	+	3	474	c.297C>T	c.(295-297)gtC>gtT	p.V99V	DCTN5_uc021tfi.1_Silent_p.V57V|DCTN5_uc021tfj.1_Silent_p.V99V	NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN	Homo sapiens dynactin 5 (p25) (DCTN5), transcript variant 1, mRNA.	99						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		ATTGTGTGGTCAACGCAGCAC	0.418000														46			10		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718841	42718841	+	Missense_Mutation	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:42718841T>C	uc021xxv.1	+	9	1390	c.1253T>C	c.(1252-1254)gTt>gCt	p.V418A	GHR_uc003jmt.3_Missense_Mutation_p.V411A|GHR_uc003jmu.3_Missense_Mutation_p.V411A|GHR_uc003jmv.2_Missense_Mutation_p.V411A|GHR_uc021xxw.1_Missense_Mutation_p.V411A|GHR_uc021xxx.1_Missense_Mutation_p.V411A|GHR_uc021xxy.1_Missense_Mutation_p.V411A|GHR_uc021xxz.1_Missense_Mutation_p.V411A|GHR_uc021xya.1_Missense_Mutation_p.V411A|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.V224A|GHR_uc021xyd.1_Missense_Mutation_p.V389A	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	411					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACCTCAGAGGTTGCTCAGCCA	0.478000														84			27		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256039	140256039	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:140256039C>T	uc003lic.2	+	0	1109	c.982C>T	c.(982-984)Cct>Tct	p.P328S	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_uc011daf.2_Missense_Mutation_p.P328S	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	343	Cadherin 3.				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)			TAAAGGGATTCCTTCCATGGC	0.423000														62			19		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866214	131866214	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:131866214G>A	uc003vra.4	-	17	3647	c.3418C>T	c.(3418-3420)Ccc>Tcc	p.P1140S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1140						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						ACCGGGTTGGGATAGTAGGTG	0.587000														252			29		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917949	48917949	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:48917949G>A	uc002isv.4	+	1	1994	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	WFIKKN2_uc010dbu.3_Missense_Mutation_p.E341K	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	434	BPTI/Kunitz inhibitor 2.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCCTGTGAGGAGTCGTGCCC	0.617000														93			17		0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186901996	186901996	+	Missense_Mutation	SNP	T	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:186901996T>G	uc001gsc.3	+	7	865	c.660T>G	c.(658-660)tgT>tgG	p.C220W	PLA2G4A_uc010pos.2_Missense_Mutation_p.C160W	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	220	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TTCTGGATTGTGCTACCTACG	0.408000														185			20		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17599902	17599903	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:17599902_17599903GG>AA	uc001bai.3	+	9	1155_1156	c.1115_1116GG>AA	c.(1114-1116)agg>aAA	p.R372K		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	372					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GACTCCCCAAGGAATGGGGAAC	0.609000														25			6		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996029	140996029	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrX:140996029C>T	uc004fbt.3	+	3	3163	c.2839C>T	c.(2839-2841)Cct>Tct	p.P947S	MAGEC1_uc010nsl.2_Missense_Mutation_p.P14S|MAGEC1_uc022cfi.1_Missense_Mutation_p.P606S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	947	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTACTTTCCTGTGATCTT	0.463000										HNSCC(15;0.026)				67			57		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91686132	91686132	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:91686132G>A	uc004aqf.2	-	4	1072	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	255	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCCCAGAGGCGAAGGAGATGG	0.502000														37			6		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220479908	220479908	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:220479908C>T	uc002vml.3	+	23	3038	c.2995C>T	c.(2995-2997)Cct>Tct	p.P999S		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	999					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGCCCTCTCCTCCAGCAGC	0.657000														11			3		0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203452395	203452395	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:203452395C>T	uc001gzs.3	+	1	283	c.83C>T	c.(82-84)cCc>cTc	p.P28L	PRELP_uc001gzt.3_Missense_Mutation_p.P28L	NM_002725	NP_958505	P51888	PRELP_HUMAN	Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA.	28					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.P28H(4)|p.P28P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGACCAAGACCCGGGACTGGG	0.647000														109			105		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108496545	108496545	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:108496545C>T	uc010ywk.2	+	20	5128	c.5046C>T	c.(5044-5046)gtC>gtT	p.V1682V	RGPD4_uc002tdu.3_Silent_p.V869V|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1682					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CCAGTGCAGTCCTTATGGAGC	0.438000														142			35		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57334191	57334191	+	Nonsense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:57334191C>T	uc002qnu.2	-	2	846	c.495G>A	c.(493-495)tgG>tgA	p.W165*	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Nonsense_Mutation_p.W40*|PEG3_uc010etp.2_Nonsense_Mutation_p.W40*|PEG3_uc010ygs.1_Nonsense_Mutation_p.W40*|PEG3_uc002qnq.2_Nonsense_Mutation_p.W40*|PEG3_uc002qnt.2_Nonsense_Mutation_p.W166*|PEG3_uc002qnv.2_Nonsense_Mutation_p.W165*|PEG3_uc002qnw.2_Nonsense_Mutation_p.W40*|PEG3_uc002qnx.2_Nonsense_Mutation_p.W39*|PEG3_uc010etr.2_Nonsense_Mutation_p.W165*	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	165					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCCTCCGGTCCCAGTCCCGGT	0.537000														19			4		0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852478	15852478	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:15852478C>T	uc010xoq.2	+	0	276	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCCATCGTTCCATCACCTTTG	0.498000														238			62		0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120914603	120914604	+	Silent	DNP	GG	AA	AA	rs144336585	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:120914603_120914604GG>AA	uc001leb.3	-	10	747_748	c.702_703CC>TT	c.(700-705)gtcctg>gtTTtg	p.234_235VL>VL	SFXN4_uc001ldy.3_Silent_p.118_119VL>VL|SFXN4_uc001lea.3_Non-coding_Transcript	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	Homo sapiens sideroflexin 4 (SFXN4), mRNA.	234					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GAATGACCCAGGACATTGCCTT	0.465000														63			19		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183721336	183721337	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:183721336_183721337GG>AA	uc003ivd.1	+	26	8007_8008	c.7932_7933GG>AA	c.(7930-7935)gaggag>gaAAag	p.E2645K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2645					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCGACGGCGAGGAGGGCGCGCG	0.733000														16			4		0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196515	207196515	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:207196515G>A	uc001hfd.2	-	3	853	c.594C>T	c.(592-594)atC>atT	p.I198I	C1orf116_uc009xcb.1_5'UTR|C1orf116_uc021pii.1_5'Flank	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	198						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CTGGCGGAGGGATGAGCACCA	0.662000														209			128		0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45583412	45583412	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:45583412C>T	uc003cop.1	+	20	2681	c.2496C>T	c.(2494-2496)ttC>ttT	p.F832F	LARS2_uc010hit.1_Silent_p.F789F	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	832					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACCCGGAGTTCCTGCAGCAGC	0.612000														49			15		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47556871	47556871	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:47556871C>T	uc003gxk.1	+	10	1928	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	588					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCGACTTTTTCATTGCATTGG	0.403000														74			16		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086436	100086436	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:100086436G>A	uc003uvd.1	+	3	1251	c.1092G>A	c.(1090-1092)aaG>aaA	p.K364K	NYAP1_uc003uve.1_Silent_p.K146K	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	364	Pro-rich.																GCCACTCCAAGGAGCCAGCCG	0.682000														63			26		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942176	12942176	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:12942176C>T	uc001aun.2	-	2	445	c.374G>A	c.(373-375)gGg>gAg	p.G125E		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	125										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		GAGGAAGCACCCATGGGCCAT	0.493000														185			48		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	54256001	54256001	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:54256001C>T	uc003haa.3	+	5	544	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F	PDGFRA_uc003gzx.4_Missense_Mutation_p.L105F|PDGFRA_uc011bzt.1_Missense_Mutation_p.L120F|PDGFRA_uc003gzy.3_Missense_Mutation_p.L120F|PDGFRA_uc011bzu.2_Missense_Mutation_p.L105F|PDGFRA_uc003gzz.3_Missense_Mutation_p.L105F|PDGFRA_uc003hab.3_Missense_Mutation_p.L108F	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	0	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACCTGTAAATCTTAACATCAA	0.308000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				43			9		0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190106190	190106190	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:190106190C>T	uc003fsi.3	+	0	530	c.282C>T	c.(280-282)acC>acT	p.T94T	CLDN16_uc010hze.3_Silent_p.T94T	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Homo sapiens claudin 16 (CLDN16), mRNA.	94					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TTGTGGCCACCTGGACTGACT	0.478000														210			59		0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30494901	30494901	+	Missense_Mutation	SNP	C	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:30494901C>A	uc003tav.3	-	4	751	c.228G>T	c.(226-228)caG>caT	p.Q76H	NOD1_uc010kvs.2_Missense_Mutation_p.Q76H	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	76	CARD.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CGCCCTTGCTCTGTACCAGGT	0.592000														38			16		3.41278e-10	3.436e-10	1	1	0
SLC25A46	91137	broad.mit.edu	37	5	110097045	110097045	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:110097045C>T	uc003koz.3	+	7	887	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	SLC25A46_uc011cvi.2_Missense_Mutation_p.L183F	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	Homo sapiens solute carrier family 25, member 46 (SLC25A46), mRNA.	274					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TCATGGAGTTCTTCATTACAT	0.433000														75			21		0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1372852	1372852	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:1372852C>T	uc002fsp.3	-	24	2803	c.2583G>A	c.(2581-2583)cgG>cgA	p.R861R	MYO1C_uc002fsn.3_Silent_p.R842R|MYO1C_uc002fso.3_Silent_p.R826R|MYO1C_uc010vqj.1_Silent_p.R826R	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	861					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCTGATACTCCGGCAGTATT	0.587000														16			6		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50596939	50596939	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:50596939G>A	uc003tpg.4	-	4	738	c.537C>T	c.(535-537)atC>atT	p.I179I	DDC_uc022ade.1_Silent_p.I101I|DDC_uc003tpf.4_Silent_p.I179I|DDC_uc022adb.1_Silent_p.I141I|DDC_uc022adc.1_Silent_p.I179I|DDC_uc022add.1_Intron|DDC_uc022adf.1_Silent_p.I179I|LOC100129427_uc022adg.1_5'Flank	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	179					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCTTCTCCATGATAGCGGCCT	0.557000														85			52		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115351994	115351994	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:115351994G>A	uc001lal.3	-	38	4767	c.4603C>T	c.(4603-4605)Ccc>Tcc	p.P1535S	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.P1535S|NRAP_uc001lak.3_Missense_Mutation_p.P1500S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1535						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTCTGGAAGGGGATGGCATCC	0.517000														58			8		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33916057	33916058	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:33916057_33916058CC>GT	uc001zhi.3	+	19	2477_2478	c.2407_2408CC>GT	c.(2407-2409)ccc>GTc	p.P803V	RYR3_uc010bar.3_Missense_Mutation_p.P803V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	803					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTCCTGCCTCCCTCTGGCTAT	0.421000														75			18		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138711	126138711	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:126138711G>A	uc001uhe.1	+	8	2700	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	TMEM132B_uc001uhf.1_Missense_Mutation_p.E410K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	898						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AACGGACTTGGAGATTGGCAT	0.512000														55			25		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137707455	137707455	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:137707455C>T	uc004cfe.3	+	50	4430	c.4048C>T	c.(4048-4050)Ccc>Tcc	p.P1350S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1350	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCCTGGCCCCCCCGGAGAGCC	0.622000														18			12		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498495	61498495	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:61498495G>A	uc002jal.4	+	24	5175	c.5152G>A	c.(5152-5154)Gga>Aga	p.G1718R	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.G829R	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1718							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ACCACAGATCGGACGCAGCCA	0.532000														203			39		0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150645820	150645820	+	Missense_Mutation	SNP	A	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:150645820A>T	uc021xfs.1	-	3	932	c.641T>A	c.(640-642)cTg>cAg	p.L214Q	CLRN1-AS1_uc011bny.1_Intron|CLRN1_uc021xfq.1_Intron|CLRN1_uc021xfr.1_Intron|CLRN1_uc003eyj.3_Intron|CLRN1_uc003eyk.1_Missense_Mutation_p.L201Q	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	201					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAGCCCATTCAGAAAATGAAC	0.353000														43			19		0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132101139	132101139	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:132101139G>A	uc003kxr.2	-	1	351	c.113C>T	c.(112-114)tCg>tTg	p.S38L	SEPT8_uc003kxs.1_Missense_Mutation_p.S38L|SEPT8_uc003kxu.2_Missense_Mutation_p.S38L|SEPT8_uc011cxi.1_Missense_Mutation_p.S38L|SEPT8_uc003kxv.2_Missense_Mutation_p.S38L|SEPT8_uc003kxt.2_5'UTR	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA.	38					cell cycle	septin complex	GTP binding|protein binding	p.S38L(2)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGAGTGACCGACTTGCTGAC	0.617000														136			46		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127771326	127771326	+	Missense_Mutation	SNP	T	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:127771326T>G	uc011ebs.2	-	2	643	c.307A>C	c.(307-309)Aaa>Caa	p.K103Q	KIAA0408_uc003qbc.3_Missense_Mutation_p.K103Q|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qbb.3_5'UTR	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	103							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)		TTATTTTCTTTTCTCAGACCA	0.358000														38			20		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708988	96708988	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:96708988G>A	uc001kka.4	+	4	791	c.766G>A	c.(766-768)Gac>Aac	p.D256N	CYP2C9_uc009xut.3_Missense_Mutation_p.D256N	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	256					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGAATCAATGGACATGAACAA	0.328000														65			20		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173506150	173506150	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:173506150C>T	uc001giz.2	-	13	2009	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	SLC9C2_uc009wwe.2_Missense_Mutation_p.G87E|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	529					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTCAAGAATTCCATTGTTACG	0.313000														158			25		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10478868	10478868	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:10478868G>A	uc002moc.4	-	4	706	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	TYK2_uc010dxe.3_Intron|TYK2_uc002mod.2_Missense_Mutation_p.R110W	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	110	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGCCAGTTCCGGAAATAAAAC	0.587000														42			15		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chrGL000211.1:86162T>C	uc003bnz.1	+	5		c.910T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTGAGAATGTTAATGGATACA	0.443000														8			5		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754779	76754779	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:76754779G>A	uc002lmt.3	+	1	2788	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	SALL3_uc010dra.3_Missense_Mutation_p.E537K	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	930					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGAGCCCCAGGAAATCCCGCT	0.746000														13			8		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876471	35876471	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:35876471C>T	uc003jjs.3	+	7	1352	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	421					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)			CATTTTCTCTCCAATCTGGAA	0.512000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							42			15		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513678	99513678	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:99513678G>A	uc003dti.1	+	2	1064	c.936G>A	c.(934-936)ggG>ggA	p.G312G	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.G311G|COL8A1_uc003dth.1_Silent_p.G311G	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	311	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GACCTCCTGGGATACCCGGAA	0.657000														49			17		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101404	27101404	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:27101404C>T	uc001bmv.1	+	17	5059	c.4686C>T	c.(4684-4686)ccC>ccT	p.P1562P	ARID1A_uc001bmt.1_Silent_p.P1561P|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Silent_p.P1179P|ARID1A_uc001bmx.1_Silent_p.P408P|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1562					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTGTGCCCCCCATGACAA	0.617000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									36			19		0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115812183	115812183	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:115812183G>A	uc011lwz.1	-	1	175	c.147C>T	c.(145-147)ttC>ttT	p.F49F	ZFP37_uc004bgm.1_Intron|ZFP37_uc011lxa.1_Intron	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	44	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCACATGTTTGAATGTTACTG	0.403000														21			19		0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139265103	139265103	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:139265103C>T	uc022bpp.1	-	4	844	c.678G>A	c.(676-678)gtG>gtA	p.V226V	CARD9_uc004chg.3_Silent_p.V226V|CARD9_uc022bpo.1_Silent_p.V226V|CARD9_uc011mdx.1_Silent_p.V122V|CARD9_uc010nbj.2_3'UTR	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	226					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTTGCGCTCCACCTTGCAGT	0.657000														69			19		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47578885	47578885	+	Silent	SNP	C	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:47578885C>A	uc003gxk.1	+	18	3626	c.3462C>A	c.(3460-3462)ctC>ctA	p.L1154L	ATP10D_uc003gxl.1_Silent_p.L402L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1154					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCAACCTCCTCTTCACATCTG	0.438000														171			62		4.46356e-37	4.51066e-37	1	1	0
MERTK	10461	broad.mit.edu	37	2	112740536	112740536	+	Missense_Mutation	SNP	G	A	A	rs138908058	byFrequency	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:112740536G>A	uc002thk.1	+	7	1384	c.1262G>A	c.(1261-1263)cGg>cAg	p.R421Q	MERTK_uc002thl.1_Missense_Mutation_p.R245Q	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	421	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R421R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGGGCTACCGGATATCCCAC	0.453000														58			17		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525570	176525570	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:176525570G>A	uc001gkz.3	+	1	1276	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	PAPPA2_uc001gky.1_Missense_Mutation_p.E38K|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	38					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						GGTTGAGAGGGAACACCTGAA	0.527000														88			112		0	0	1	0	0
C2orf80	389073	broad.mit.edu	37	2	209045498	209045498	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:209045498C>T	uc002vcr.3	-	5	509	c.337G>A	c.(337-339)Gat>Aat	p.D113N		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.	113										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GCAGAAGAATCAGCCCCATAA	0.338000														54			20		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73270718	73270718	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:73270718C>T	uc001jrx.4	+	4	686	c.296C>T	c.(295-297)tCa>tTa	p.S99L	CDH23_uc001jrw.4_Missense_Mutation_p.S99L|CDH23_uc001jry.3_Missense_Mutation_p.S99L|CDH23_uc001jrz.3_Missense_Mutation_p.S99L|CDH23_uc021psl.1_Missense_Mutation_p.S99L|CDH23_uc001jrv.3_Missense_Mutation_p.S94L|CDH23_uc009xql.3_Missense_Mutation_p.S99L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	99	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGACCAAGTCAGAGTTCACC	0.612000														60			15		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100168359	100168359	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:100168359C>T	uc001pga.3	+	18	2821	c.2317C>T	c.(2317-2319)Ccg>Tcg	p.P773S	CNTN5_uc001pfz.3_Missense_Mutation_p.P773S|CNTN5_uc021qpb.1_Missense_Mutation_p.P773S|CNTN5_uc021qpc.1_Missense_Mutation_p.P699S|CNTN5_uc010ruk.2_Missense_Mutation_p.P44S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	773	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)		ATCCACAGTTCCGAAGACAGC	0.423000														12			3		0	0	1	0	0
MIR1253	100302208	broad.mit.edu	37	17	2651398	2651398	+	RNA	SNP	G	A	A	rs139010443	by1000genomes	TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr17:2651398G>A	uc021tnr.1	-	0		c.79C>T								Homo sapiens microRNA 1253 (MIR1253), microRNA.																		AATCCCAAAGGGGAGAAGATC	0.478000														23			3		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68552399	68552399	+	Silent	SNP	A	G	G			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:68552399A>G	uc001oog.4	-	9	1217	c.1047T>C	c.(1045-1047)caT>caC	p.H349H	CPT1A_uc001oof.4_Silent_p.H349H	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	349					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCCGCCCATCATGGTAGAGCC	0.622000														43			10		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51504567	51504567	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:51504567C>T	uc001zyz.4	-	9	1464	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	CYP19A1_uc001zza.4_Missense_Mutation_p.E405K|CYP19A1_uc001zzb.2_Missense_Mutation_p.E405K	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	405					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GGGAAAAACTCGAGTCTGTGC	0.403000														81			15		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121136	38121136	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:38121136C>T	uc003atr.3	+	6	2844	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F	TRIOBP_uc003atu.3_Missense_Mutation_p.S686F|TRIOBP_uc003atq.1_Missense_Mutation_p.S858F|TRIOBP_uc003ats.1_Missense_Mutation_p.S686F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	858					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	p.S858F(1)		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)					CAGTCCTTTTCCTTTCAACGA	0.488000														208			33		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44833712	44833712	+	Missense_Mutation	SNP	G	A	A	rs144019017		TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:44833712G>A	uc010xwy.2	-	4	785	c.667C>T	c.(667-669)Cat>Tat	p.H223Y	ZFP112_uc010ejj.3_Missense_Mutation_p.H206Y|ZFP112_uc002ozc.4_Missense_Mutation_p.H200Y|ZFP112_uc010xwz.2_Missense_Mutation_p.H205Y	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H200Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TTACAGAAATGATTTTTCATG	0.393000														73			24		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7828363	7828363	+	Splice_Site	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:7828363G>A	uc010dvt.3	+	2	248	c.130_splice	c.e2+1	p.G44_splice	CLEC4M_uc010xjv.1_Splice_Site_p.V44_splice|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc002mih.3_Splice_Site_p.G44_splice|CLEC4M_uc010xjw.2_Splice_Site_p.V44_splice|CLEC4M_uc010dvs.3_Splice_Site_p.G43_splice|CLEC4M_uc010xjx.2_Intron|CLEC4M_uc002mhz.3_Splice_Site_p.G44_splice|CLEC4M_uc002mic.3_Intron|CLEC4M_uc002mia.3_Splice_Site_p.V44_splice	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	44					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGCTCTACAGGTAGGCAAGAG	0.512000														45			18		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182414409	182414409	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:182414409G>A	uc002unx.3	-	6	1026	c.925C>T	c.(925-927)Ctt>Ttt	p.L309F	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.L283F|CERKL_uc010zfm.2_Missense_Mutation_p.L265F|CERKL_uc002unz.3_Missense_Mutation_p.L31F|CERKL_uc002uoa.3_Missense_Mutation_p.L214F|CERKL_uc002uob.3_Missense_Mutation_p.L31F|CERKL_uc002uoc.3_Missense_Mutation_p.L170F|CERKL_uc021vth.1_Missense_Mutation_p.L78F|CERKL_uc021vti.1_Missense_Mutation_p.L31F|CERKL_uc021vtj.1_5'UTR|CERKL_uc021vtk.1_Missense_Mutation_p.L31F|CERKL_uc021vtl.1_5'UTR|CERKL_uc021vtm.1_Missense_Mutation_p.L78F|CERKL_uc002uod.2_Missense_Mutation_p.L78F|CERKL_uc002uoe.3_Missense_Mutation_p.L283F|CERKL_uc002unw.3_5'Flank	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	309	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACTCCATGAAGAGAATGTGCC	0.323000														54			12		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79366681	79366681	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:79366681C>T	uc003hlb.2	+	41	6111	c.5671C>T	c.(5671-5673)Cgt>Tgt	p.R1891C	FRAS1_uc003hkw.3_Missense_Mutation_p.R1891C|FRAS1_uc010ijj.2_Missense_Mutation_p.R311C	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1890					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						TGCAGGTGATCGTTTTGGCCC	0.393000														38			13		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211460236	211460236	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:211460236C>T	uc010fur.3	+	13	1389	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L	CPS1_uc002vee.4_Missense_Mutation_p.S430L|CPS1_uc010fus.3_5'UTR	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	430					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATTCTAGGATCAGGAGGTCTG	0.378000														92			30		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79391213	79391213	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:79391213G>A	uc003hlb.2	+	50	7779	c.7339G>A	c.(7339-7341)Gga>Aga	p.G2447R		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2446					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						CACCAACCTGGGACTCCAGTG	0.532000														26			13		0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70645791	70645791	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:70645791G>A	uc001jos.2	+	2	2326	c.2239G>A	c.(2239-2241)Gac>Aac	p.D747N	STOX1_uc001joq.3_Missense_Mutation_p.D637N|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.D637N	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	747						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGAGAATGACGACTTACGTCA	0.428000														56			22		0	0	1	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428785	142428785	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:142428785G>A	uc011ksk.1	+	1	162	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	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_Missense_Mutation_p.E4K					SubName: Full=V_segment translation product; Flags: Fragment;																		TATGGACCATGAAAATATGTT	0.433000														40			35		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	367134	367134	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:367134C>T	uc002lol.3	-	6	887	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	THEG_uc002lom.3_Missense_Mutation_p.E258K	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	282					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCACTCTTCCAAGAGGGTG	0.587000														116			29		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154026786	154026786	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:154026786C>T	uc001fdw.3	-	24	3473	c.3401G>A	c.(3400-3402)gGg>gAg	p.G1134E	NUP210L_uc009woq.3_Missense_Mutation_p.G43E|NUP210L_uc010peh.2_Missense_Mutation_p.G1134E	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1134						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AACAATCTTCCCTGTAACTTG	0.473000														85			66		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91795187	91795187	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr15:91795187G>A	uc002bqv.3	+	3	1481	c.590G>A	c.(589-591)gGa>gAa	p.G197E	SV2B_uc002bqt.3_Missense_Mutation_p.G197E|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.G46E	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	197					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)			TTCGTGCAGGGATATGGAGCC	0.577000														68			23		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040868	147040868	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:147040868C>T	uc010jgo.1	-	1	418	c.270G>A	c.(268-270)gaG>gaA	p.E90E	JAKMIP2_uc003loq.1_Silent_p.E90E|JAKMIP2_uc011dbx.1_Silent_p.E48E|JAKMIP2_uc003lor.1_Silent_p.E90E|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	90						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATAAGGTTCTCCCTCACAG	0.557000														178			45		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62463005	62463005	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr14:62463005C>T	uc001xfu.1	+	0	465	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	SYT16_uc010tsd.1_Missense_Mutation_p.H90Y	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	90										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGAAGTGGATCATTTCTCATG	0.398000														112			20		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159251	118159251	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:118159251G>A	uc003yoh.3	+	1	360	c.130G>A	c.(130-132)Gag>Aag	p.E44K	SLC30A8_uc010mcz.3_5'UTR|SLC30A8_uc003yog.3_5'UTR|SLC30A8_uc011lia.2_5'UTR|SLC30A8_uc022bab.1_5'UTR	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	44					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GAGACCAGAGGAGCTGGAGTC	0.507000														67			24		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397559	397559	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:397559C>T	uc021qbk.1	+	4	1039	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	PKP3_uc001lpc.3_Missense_Mutation_p.P322L	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	322					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATTGACCTGCCCTCAGCAGTC	0.612000														72			15		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13793828	13793828	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:13793828C>T	uc003jfd.2	-	48	8062	c.8020G>A	c.(8020-8022)Gag>Aag	p.E2674K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2674	AAA 3 (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)					CGCACTATCTCATTCGTAACC	0.423000									Kartagener syndrome					64			9		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087479	47087479	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:47087479C>T	uc001jee.3	+	2	1115	c.696C>T	c.(694-696)gtC>gtT	p.V232V	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.V232V|PPYR1_uc021ppu.1_Silent_p.V232V	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	232					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCATCCTGGTCTGTTATGCAC	0.602000														99			15		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440146	40440146	+	Silent	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr4:40440146G>A	uc003gvc.2	-	3	1475	c.765C>T	c.(763-765)atC>atT	p.I255I	RBM47_uc003gvd.2_Silent_p.I255I|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.I217I|RBM47_uc003gvg.1_Silent_p.I255I	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	255	RRM 3.					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						CGGTGGTCTCGATCATGAGGT	0.607000														78			20		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20940837	20940837	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr11:20940837G>A	uc009yid.3	+	7	953	c.800G>A	c.(799-801)gGa>gAa	p.G267E	NELL1_uc010rdp.2_5'UTR|NELL1_uc001mqe.3_Missense_Mutation_p.G239E|NELL1_uc001mqf.3_Missense_Mutation_p.G239E|NELL1_uc010rdo.2_Missense_Mutation_p.G182E	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	239					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGGTGCAAGGAATAATGGAT	0.303000														64			13		0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56866538	56866538	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:56866538G>A	uc003xsk.4	+	7	1067	c.785G>A	c.(784-786)tGg>tAg	p.W262*	LYN_uc003xsl.4_Nonsense_Mutation_p.W241*	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	262	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GGGGAAGTCTGGATGGGTAAG	0.542000														95			16		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158152067	158152067	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:158152067C>T	uc001frr.3	+	3	1073	c.574C>T	c.(574-576)Ctt>Ttt	p.L192F	CD1D_uc009wsr.1_Missense_Mutation_p.L192F|CD1D_uc009wss.3_Missense_Mutation_p.L192F|CD1D_uc009wst.1_Missense_Mutation_p.L88F	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	192	Ig-like.				T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAGTGGCCTCCTTGAGTCAGG	0.542000														288			22		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116429581	116429581	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr12:116429581G>A	uc001tvw.3	-	16	3233	c.3178C>T	c.(3178-3180)Ccc>Tcc	p.P1060S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1060					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCACCTCTGGGAGTTCTTGGG	0.607000														69			16		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99434119	99434119	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:99434119C>T	uc003ury.1	+	1	218	c.115C>T	c.(115-117)Cct>Tct	p.P39S	CYP3A43_uc003urx.1_Missense_Mutation_p.P39S|CYP3A43_uc003urz.1_Missense_Mutation_p.P39S|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.P39S|CYP3A43_uc003usb.1_Intron	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	39			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GCTGGGAATTCCTGGGCCAAC	0.388000														54			7		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215955487	215955487	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:215955487C>T	uc001hku.1	-	53	11024	c.10637G>A	c.(10636-10638)gGa>gAa	p.G3546E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3546	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R3545W(1)|p.R3545Q(1)		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)		CAGTGATGTTCCCCGAAAACG	0.393000										HNSCC(13;0.011)				43			67		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19351433	19351433	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr19:19351433G>A	uc002nlz.3	+	11	3530	c.3431G>A	c.(3430-3432)tGg>tAg	p.W1144*	NCAN_uc002nma.3_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1144	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GAAAACACGTGGATCGGCCTG	0.642000														69			24		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059101	11059101	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr3:11059101G>A	uc010hdq.3	+	2	615	c.204G>A	c.(202-204)tgG>tgA	p.W68*		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	68					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCAACGTCTGGAGGTTCCCCT	0.622000														67			17		0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712384	32712384	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr5:32712384G>A	uc003jhv.3	+	0	947	c.502G>A	c.(502-504)Gac>Aac	p.D168N	NPR3_uc010iuo.3_Intron|NPR3_uc003jhw.2_Intron|NPR3_uc003jhu.3_Missense_Mutation_p.D168N	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	168					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CCAGCACAAGGACTCTGAGTA	0.682000														114			36		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877373	38877373	+	Nonsense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr6:38877373G>A	uc021yzh.1	+	64	9702	c.9593G>A	c.(9592-9594)tGg>tAg	p.W3198*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.W2981*|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCAGCCGCTGGCCAAGGGAG	0.448000														74			18		0	0	1	0	0
VAPA	9218	broad.mit.edu	37	18	9954086	9954086	+	Missense_Mutation	SNP	G	A	A			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:9954086G>A	uc002kok.3	+	5	927	c.628G>A	c.(628-630)Gat>Aat	p.D210N	VAPA_uc002koj.3_Missense_Mutation_p.D255N	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa (VAPA), transcript variant 2, mRNA.	210					cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	p.S209R(1)		breast(1)|lung(2)|prostate(1)	4						AGCACATTCGGATAAACCTGG	0.393000														50			12		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000569	73000569	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:73000569C>T	uc002lly.3	+	1	3635	c.3072C>T	c.(3070-3072)atC>atT	p.I1024I	TSHZ1_uc021uln.1_Silent_p.I1024I	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	1069						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCACCTGATCTATGTGACTG	0.537000														104			15		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116930426	116930426	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr9:116930426C>T	uc011lxl.2	+	2	591	c.591C>T	c.(589-591)ttC>ttT	p.F197F	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Silent_p.F47F	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	197	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGGCTCCTTCCTCTTTGGGA	0.607000														26			23		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862928	67862928	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr10:67862928C>T	uc009xpn.1	-	13	2087	c.1964G>A	c.(1963-1965)gGg>gAg	p.G655E	CTNNA3_uc001jmw.2_Missense_Mutation_p.G655E	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	655					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATCAGTTTTCCCTTCGGTCTG	0.488000														40			11		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492506	74492506	+	Silent	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr1:74492506C>T	uc001dfy.4	-	7	2058	c.1866G>A	c.(1864-1866)ctG>ctA	p.L622L	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	622										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCATTTTATCAGTCCATTGG	0.289000														17			7		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749451	196749451	+	Missense_Mutation	SNP	C	T	T			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr2:196749451C>T	uc002utj.4	-	34	5722	c.5621G>A	c.(5620-5622)cGa>cAa	p.R1874Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1874					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						CATTAGTTCTCGAAGAATCTT	0.383000														39			13		0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr7:155531073_155531074delCA	uc010lqk.1	+	10	2081_2082	c.1713_1714delCA	c.(1711-1716)cccacafs	p.P571fs	RBM33_uc011kvv.1_Frame_Shift_Del_p.P380fs	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	571	Pro-rich.						RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.530													---	106	---	---	8	---					
MIR30B	407030	broad.mit.edu	37	8	135812799	135812799	+	RNA	DEL	A	-	-			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr8:135812799delA	uc011ljk.2	-	0		c.52delT								Homo sapiens microRNA 30b (MIR30B), microRNA.																		CCTCCCAGCCAATCCATGTAT	0.358													---	4	---	---	2	---					
ADNP2	22850	broad.mit.edu	37	18	77894260	77894261	+	Frame_Shift_Ins	INS	-	C	C			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr18:77894260_77894261insC	uc002lnw.3	+	3	1419_1420	c.964_965insC	c.(964-966)tccfs	p.S322fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGCT	0.644													---	118	---	---	7	---					
SCARF2	91179	broad.mit.edu	37	22	20791941	20791943	+	In_Frame_Del	DEL	AGC	-	-			TCGA-QB-A6FS-06A-11D-A30X-08	TCGA-QB-A6FS-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f847e731-a011-4574-ac71-8cfbf9c07d17	40e54493-bdf6-4cee-83d1-90f7bb38484d	g.chr22:20791941_20791943delAGC	uc002zsj.2	-	0	204_206	c.99_101delGCT	c.(97-102)ctgctc>ctc	p.33_34LL>L	SCARF2_uc002zsk.2_In_Frame_Del_p.33_34LL>L	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	33					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CAGCATCCAGagcagcagcagca	0.778													---	4	---	---	3	---