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
ESPNP	284729	broad.mit.edu	37	1	17026476	17026476	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:17026476C>T	uc001azn.1	-	6	1210	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CGGCTGGAGTCCTGCCTCCGT	0.736												
KIAA0090	23065	broad.mit.edu	37	1	19557342	19557342	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:19557342C>T	uc001bbo.3	-	16	2103	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	KIAA0090_uc001bbp.3_Missense_Mutation_p.R686Q|KIAA0090_uc001bbq.3_Missense_Mutation_p.R686Q|KIAA0090_uc001bbr.3_Missense_Mutation_p.R665Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	687						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		TCCTACCTTTCGAAGCCGATA	0.502												
HRNR	388697	broad.mit.edu	37	1	152185734	152185734	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:152185734C>T	uc001ezt.1	-	2	8447	c.8371G>A	c.(8371-8373)Ggc>Agc	p.G2791S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2791					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)			TGTCCTGAGCCAGACCCATGT	0.557												
SOX13	9580	broad.mit.edu	37	1	204092264	204092265	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:204092264_204092265CC>AA	uc001ham.3	+	10	1754_1755	c.1159_1160CC>AA	c.(1159-1161)cca>AAa	p.P387K	SOX13_uc010pqp.2_Missense_Mutation_p.P386K|SOX13_uc010pqq.2_Missense_Mutation_p.P254K	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	387					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGACTCATCCCCAGCCAAGGAG	0.634												
REN	5972	broad.mit.edu	37	1	204125330	204125330	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:204125330C>A	uc001haq.2	-	7	980	c.936G>T	c.(934-936)ttG>ttT	p.L312F		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	312					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)	TCTTGGCTCCCAAGGCCTCCA	0.567												
PTEN	5728	broad.mit.edu	37	10	89720855	89720856	+	Frame_Shift_Ins	INS	-	-	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr10:89720855_89720856insA	uc001kfb.3	+	7	2038_2039	c.1006_1007insA	c.(1006-1008)tacfs	p.Y336fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	336	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R335*(25)|p.Y336*(6)|p.R55fs*1(5)|p.R335fs*8(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*4(2)|p.R335fs*7(2)|p.W274_F341del(2)|p.Y336F(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335G(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGCCAACCGATACTTTTCTCCA	0.337		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
USH1C	10083	broad.mit.edu	37	11	17519716	17519716	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr11:17519716T>C	uc001mnf.3	-	18	1692	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R	USH1C_uc001mne.3_Missense_Mutation_p.Q828R|USH1C_uc009yhb.3_Missense_Mutation_p.Q509R|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.Q492R	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	528	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TACCCCGCCCTGATTCCAGGC	0.577												
SLC43A3	5553	broad.mit.edu	37	11	57155245	57155245	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr11:57155245C>T	uc001nkc.3	-	4	666	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	SLC43A3_uc001nkd.3_Missense_Mutation_p.V187M|SLC43A3_uc001nke.3_Missense_Mutation_p.V478M	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CACAGGGCCACGCAGTGACCA	0.617												
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
AQP2	359	broad.mit.edu	37	12	50344911	50344911	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:50344911G>A	uc001rvn.3	+	0	388	c.298G>A	c.(298-300)Gga>Aga	p.G100R		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	100			G -> R (in ANDI).|G -> V (in ANDI; dbSNP:rs28929477).		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						GGCTGTGGCCGGAGCCGCTCT	0.647												
NACA	4666	broad.mit.edu	37	12	57108166	57108166	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:57108166T>C	uc001sly.2	-	3	537	c.214A>G	c.(214-216)Agt>Ggt	p.S72G	NACA_uc021qze.1_Missense_Mutation_p.S1935G|NACA_uc001slz.2_Missense_Mutation_p.S72G|NACA_uc001sma.2_Missense_Mutation_p.S782G|NACA_uc001smc.2_Missense_Mutation_p.S72G|NACA_uc010squ.1_Intron	NM_001113202	NP_001106673	Q13765	NACA_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit (NACA), transcript variant 4, mRNA.	72	NAC-A/B.|Required for DNA-binding (By similarity).				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCTTTTCACTCCGACTCTGT	0.393			T	BCL6	NHL							
OR4K2	390431	broad.mit.edu	37	14	20345324	20345324	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:20345324A>G	uc001vwh.1	+	0	898	c.898A>G	c.(898-900)Aaa>Gaa	p.K300E		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R299S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCCATGAGGAAACTGAAAAA	0.348												
TTC5	91875	broad.mit.edu	37	14	20760171	20760171	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:20760171G>A	uc001vwt.3	-	8	1231	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	TTC5_uc001vwu.3_Missense_Mutation_p.R249W	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	392					DNA repair	cytoplasm|nucleus	binding	p.R392Q(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CGGTGAAGCCGCAGGTTGGGC	0.453												
LTB4R2	56413	broad.mit.edu	37	14	24779987	24779987	+	Silent	SNP	C	C	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:24779987C>A	uc021rrp.1	+	0	117	c.117C>A	c.(115-117)ggC>ggA	p.G39G	CIDEB_uc001won.3_5'Flank|CIDEB_uc001woo.3_5'UTR|CIDEB_uc001wop.3_5'UTR|LTB4R2_uc010alo.3_Silent_p.G39G|LTB4R2_uc001wor.3_Silent_p.G39G|LTB4R_uc001wos.3_5'Flank|LTB4R_uc010alp.3_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.	70					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CTGGCAACGGCTTCGTGGTGT	0.726												
BAZ1A	11177	broad.mit.edu	37	14	35331298	35331298	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:35331298C>T	uc001wsk.3	-	2	912	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	BAZ1A_uc001wsl.3_Missense_Mutation_p.R115Q|BAZ1A_uc001wsm.1_Missense_Mutation_p.R115Q	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	115	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GACAAAATATCGATCCTTGAC	0.358												
GJD2	57369	broad.mit.edu	37	15	35045056	35045056	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:35045056G>A	uc001zis.1	-	1	589	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	197					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATGTAGAAGCGGGAGATGCCT	0.483												
BAHD1	22893	broad.mit.edu	37	15	40750942	40750942	+	Silent	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:40750942G>A	uc001zlu.2	+	1	350	c.279G>A	c.(277-279)ccG>ccA	p.P93P	BAHD1_uc001zlt.2_Silent_p.P93P|BAHD1_uc010bbp.1_Silent_p.P93P|BAHD1_uc001zlv.2_Silent_p.P93P	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	93					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ATGAGCTACCGCCTGACCTGC	0.662												
STRC	161497	broad.mit.edu	37	15	43893602	43893602	+	Missense_Mutation	SNP	T	T	C	rs141809944		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:43893602T>C	uc001zsf.3	-	23	4771	c.4693A>G	c.(4693-4695)Acc>Gcc	p.T1565A	STRC_uc010bdl.3_Missense_Mutation_p.T792A|STRC_uc001zse.3_Missense_Mutation_p.T83A	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1565					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACCTGAGTGGTGCTCCAGCCA	0.522												
SEC14L5	9717	broad.mit.edu	37	16	5058451	5058451	+	Silent	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr16:5058451G>A	uc002cye.2	+	13	1782	c.1602G>A	c.(1600-1602)tcG>tcA	p.S534S		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	534	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AAGGAGAGTCGGTCATCACCT	0.642												
APPBP2	10513	broad.mit.edu	37	17	58603208	58603208	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr17:58603208G>A	uc002iys.1	-	0	373	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	APPBP2_uc010ddl.1_5'UTR	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	29					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ATGTCTCGGCGGGAGCGGATG	0.592												
CD300LD	100131439	broad.mit.edu	37	17	72576247	72576247	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr17:72576247G>A	uc002jkz.2	-	3	508	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA.	160						integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCTCTTGAGCGGGGACCTGTG	0.572												
SERPINB7	8710	broad.mit.edu	37	18	61471645	61471645	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr18:61471645C>T	uc002ljl.3	+	7	1015	c.919C>T	c.(919-921)Ctc>Ttc	p.L307F	SERPINB7_uc002ljm.3_Missense_Mutation_p.L307F|SERPINB7_uc010xet.2_Missense_Mutation_p.L290F|SERPINB7_uc010dqg.3_Missense_Mutation_p.L307F	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	307					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)				CAAAGCAGATCTCTCTGGGAT	0.433												
ATP9B	374868	broad.mit.edu	37	18	77037059	77037059	+	Missense_Mutation	SNP	G	G	A	rs149013492		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr18:77037059G>A	uc002lmx.3	+	12	1288	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.R425H|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_Missense_Mutation_p.R119H	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	425					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GGCAGTTTGCGTGTGAACTTG	0.493												
S1PR2	9294	broad.mit.edu	37	19	10335447	10335447	+	Silent	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:10335447G>A	uc002mnl.2	-	1	246	c.135C>T	c.(133-135)tgC>tgT	p.C45C	S1PR2_uc021uos.1_Silent_p.C45C	NM_004230	NP_004221	O95136	S1PR2_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.	45					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCACAATGGCGCAACAGAGGA	0.567												
CILP2	148113	broad.mit.edu	37	19	19655680	19655680	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:19655680C>T	uc002nmw.4	+	7	2429	c.2344C>T	c.(2344-2346)Cgt>Tgt	p.R782C	CILP2_uc002nmv.4_Missense_Mutation_p.R776C	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	776						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCCAACCCCCGTGCCTGGGG	0.711												
LILRB3	11026	broad.mit.edu	37	19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:54803127C>T	uc002qfd.3	-	3	642	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	183	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.V184M(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.567												
NLRP4	147945	broad.mit.edu	37	19	56382302	56382302	+	Missense_Mutation	SNP	G	G	A	rs140263319	by1000genomes	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:56382302G>A	uc002qmd.4	+	6	2886	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	NLRP4_uc002qmf.3_Missense_Mutation_p.E747K|NLRP4_uc010etf.3_Missense_Mutation_p.E597K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	822							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCTGAAGGACGAAGGACTGAA	0.512												
GLI2	2736	broad.mit.edu	37	2	121748070	121748070	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr2:121748070G>T	uc010flp.3	+	12	4610	c.4580G>T	c.(4579-4581)gGt>gTt	p.G1527V	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.G1199V|GLI2_uc002tmu.4_Missense_Mutation_p.G1182V	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1527					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTGTTCTCGGGTGCTCTGAGC	0.622												
RBCK1	10616	broad.mit.edu	37	20	390566	390566	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr20:390566G>A	uc002wdp.4	+	1	757	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	RBCK1_uc010zpl.1_Missense_Mutation_p.G22R|RBCK1_uc010zpm.1_Non-coding_Transcript|RBCK1_uc002wdq.4_Intron|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Intron|RBCK1_uc002wdo.3_Non-coding_Transcript	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	22	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGTGGCGGGCGGGGATGAACA	0.582												
COL18A1	80781	broad.mit.edu	37	21	46897864	46897864	+	Frame_Shift_Del	DEL	A	A	-			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr21:46897864delA	uc002zhi.3	+	6	1767	c.1746delA	c.(1744-1746)ggafs	p.G582fs	COL18A1_uc002zhg.3_Frame_Shift_Del_p.G402fs	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	817	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCACCCCTGGAAGGGACGGCG	0.726												
SEMA3G	56920	broad.mit.edu	37	3	52475334	52475334	+	Silent	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr3:52475334C>T	uc003dea.1	-	6	759	c.759G>A	c.(757-759)tcG>tcA	p.S253S		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	253	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CACCATCGGGCGAGGGGACCG	0.617												
UGT2B4	7363	broad.mit.edu	37	4	70346533	70346533	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr4:70346533C>T	uc003hek.4	-	5	1453	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	UGT2B4_uc011cap.2_Missense_Mutation_p.R333H|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	469					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						TCCTTTATGGCGCATGACAAA	0.473												
NPR3	4883	broad.mit.edu	37	5	32774858	32774858	+	Silent	SNP	C	C	T	rs140897654	by1000genomes	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:32774858C>T	uc003jhv.3	+	3	1549	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	NPR3_uc010iuo.3_Silent_p.Y152Y|NPR3_uc003jhw.2_Silent_p.Y152Y|NPR3_uc003jhu.3_Silent_p.Y368Y	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.	368					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	p.Y368Y(2)		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)	TCCTCCTCTACGTCTTGGCTC	0.443												
STK32A	202374	broad.mit.edu	37	5	146750222	146750222	+	Silent	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:146750222G>A	uc011dbw.1	+	8	946	c.666G>A	c.(664-666)ccG>ccA	p.P222P	STK32A_uc003lom.2_Silent_p.P222P|STK32A_uc010jgn.1_Silent_p.P222P	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	Homo sapiens serine/threonine kinase 32A (STK32A), transcript variant 1, mRNA.	222	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAGACCGTATCATATTC	0.378												
ABLIM3	22885	broad.mit.edu	37	5	148619445	148619445	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:148619445C>T	uc003lpy.2	+	12	1449	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	ABLIM3_uc003lpz.1_Missense_Mutation_p.R400C|ABLIM3_uc003lqa.1_Missense_Mutation_p.R346C|ABLIM3_uc003lqb.3_Missense_Mutation_p.R338C|ABLIM3_uc003lqc.1_Missense_Mutation_p.R400C|ABLIM3_uc003lqd.1_Missense_Mutation_p.R338C|ABLIM3_uc003lqe.1_Missense_Mutation_p.R338C|ABLIM3_uc003lqf.3_Missense_Mutation_p.R338C	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	400					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTACTACCGCTCTGGTAA	0.647												
HLA-G	3136	broad.mit.edu	37	6	29855999	29855999	+	Missense_Mutation	SNP	G	G	A	rs113415054	by1000genomes	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr6:29855999G>A	uc010jro.3	+	1	493	c.347G>A	c.(346-348)gGc>gAc	p.G116D	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Intron|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	114	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CAGAGCGAGGGCGGTGAGTGA	0.667												
MYO6	4646	broad.mit.edu	37	6	76566831	76566834	+	Frame_Shift_Del	DEL	AGCA	AGCA	-			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr6:76566831_76566834delAGCA	uc003pih.1	+	12	1520_1523	c.1241_1244delAGCA	c.(1240-1245)gagcaafs	p.E414fs	MYO6_uc003pig.1_Frame_Shift_Del_p.E414fs|MYO6_uc003pii.1_Frame_Shift_Del_p.E414fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	414	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTGAAAGTGGAGCAAGCAAACAAT	0.377												
PKD1L1	168507	broad.mit.edu	37	7	47869692	47869692	+	Silent	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:47869692C>T	uc003tny.2	-	42	6538	c.6504G>A	c.(6502-6504)ctG>ctA	p.L2168L	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2168					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						ACAGCAGGTGCAGCCACTGCA	0.577												
ZP3	7784	broad.mit.edu	37	7	76054396	76054396	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:76054396G>A	uc003ufd.4	+	0	125	c.115G>A	c.(115-117)Gta>Ata	p.V39I	ZP3_uc003ufc.4_5'UTR	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	39					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TGAGACGTCCGTACAGCCCGT	0.592												
RBM28	55131	broad.mit.edu	37	7	127954955	127954956	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:127954955_127954956GG>TT	uc003vmp.2	-	16	2021_2022	c.1906_1907CC>AA	c.(1906-1908)cca>AAa	p.P636K	RBM28_uc011koj.1_Missense_Mutation_p.P495K	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	636					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTCTGCTCTGGGGGCACCTTG	0.564												
MLL3	58508	broad.mit.edu	37	7	151945253	151945253	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:151945253C>T	uc003wla.3	-	13	2485	c.2266G>A	c.(2266-2268)Gga>Aga	p.G756R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	756					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.G756A(1)		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)		GATTTGCCTCCTTGGTATGAA	0.393			N		medulloblastoma							
PTPRN2	5799	broad.mit.edu	37	7	157985120	157985120	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:157985120C>T	uc003wno.3	-	4	569	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	PTPRN2_uc003wnp.3_Missense_Mutation_p.A133T|PTPRN2_uc003wnq.3_Missense_Mutation_p.A150T|PTPRN2_uc003wnr.3_Missense_Mutation_p.A112T|PTPRN2_uc011kwa.2_Missense_Mutation_p.A173T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	150						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGTCGGAGGGCGTTGGCCAGG	0.652												
VPS13B	157680	broad.mit.edu	37	8	100821739	100821739	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr8:100821739T>C	uc003yiv.3	+	43	8264	c.8153T>C	c.(8152-8154)cTc>cCc	p.L2718P	VPS13B_uc003yiw.3_Missense_Mutation_p.L2693P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2718					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTCAGCAACTCAATGGAGTA	0.383												
PRUNE2	158471	broad.mit.edu	37	9	79324782	79324782	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:79324782A>T	uc010mpk.3	-	7	2532	c.2408T>A	c.(2407-2409)tTt>tAt	p.F803Y	PRUNE2_uc022bih.1_Missense_Mutation_p.F625Y	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	803					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCTTTACCAAATGCACTCCA	0.517												
SVEP1	79987	broad.mit.edu	37	9	113171158	113171158	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:113171158G>A	uc010mtz.3	-	37	7059	c.6722C>T	c.(6721-6723)cCt>cTt	p.P2241L	SVEP1_uc010mty.3_Missense_Mutation_p.P167L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2241	Sushi 14.				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						GACAAATACAGGACTTCCGAC	0.507												
C9orf84	158401	broad.mit.edu	37	9	114475419	114475419	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:114475419C>G	uc004bfr.3	-	15	2392	c.2257G>C	c.(2257-2259)Gaa>Caa	p.E753Q	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.E714Q|C9orf84_uc010mug.3_Missense_Mutation_p.E664Q	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	753										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAATGTTTTTCACCGTCTGAG	0.259												
PAPPA	5069	broad.mit.edu	37	9	118982397	118982397	+	Silent	SNP	T	T	C			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:118982397T>C	uc004bjn.3	+	4	2481	c.2100T>C	c.(2098-2100)caT>caC	p.H700H	PAPPA_uc011lxp.1_Silent_p.H395H|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	700					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						TAGATGGCCATTTCTTTGAAA	0.547												
FAM47C	442444	broad.mit.edu	37	X	37027712	37027712	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:37027712G>A	uc004ddl.2	+	0	1281	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	410								p.R410L(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGCATATCTAAT	0.607												
DDX3X	1654	broad.mit.edu	37	X	41206682	41206683	+	In_Frame_Ins	INS	-	-	AGC			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:41206682_41206683insAGC	uc004dfe.3	+	15	2742_2743	c.1887_1888insAGC	c.(1885-1890)insAGC	p.631_632insS	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_In_Frame_Ins_p.630_631insS|DDX3X_uc011mkq.2_In_Frame_Ins_p.615_616insS|DDX3X_uc011mkr.2_In_Frame_Ins_p.501_502insS|DDX3X_uc004dfg.3_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	631	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.R632I(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						gtggccacggtagcagcagAGG	0.505										HNSCC(61;0.18)		
STAG2	10735	broad.mit.edu	37	X	123197784	123197784	+	Nonsense_Mutation	SNP	C	C	G			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:123197784C>G	uc004eua.3	+	19	2312	c.1908C>G	c.(1906-1908)taC>taG	p.Y636*	STAG2_uc004etz.4_Nonsense_Mutation_p.Y636*|STAG2_uc004eub.3_Nonsense_Mutation_p.Y636*|STAG2_uc004euc.3_Nonsense_Mutation_p.Y636*|STAG2_uc004eud.3_Nonsense_Mutation_p.Y636*|STAG2_uc004eue.3_Nonsense_Mutation_p.Y636*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	636					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTAAAACTTACCATGCACTCT	0.363												
FRMD7	90167	broad.mit.edu	37	X	131216403	131216403	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:131216403C>A	uc004ewn.3	-	8	1071	c.893G>T	c.(892-894)aGt>aTt	p.S298I	FRMD7_uc022cdy.1_Missense_Mutation_p.S178I|FRMD7_uc011muy.2_Missense_Mutation_p.S283I	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	298					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ATAGCGGAAACTGGAACCCTT	0.448