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
NBPF1	55672	broad.mit.edu	37	1	16893838	16893838	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:16893838C>T	uc009vos.1	-	24	3563	c.2675G>A	c.(2674-2676)aGg>aAg	p.R892K	NBPF1_uc009vot.1_Missense_Mutation_p.R350K|NBPF1_uc001ayz.1_Missense_Mutation_p.R350K|NBPF1_uc010oce.1_Missense_Mutation_p.R621K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	892	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGCAGCTCCCTGCTGAGCCT	0.473												
PLK3	1263	broad.mit.edu	37	1	45271002	45271002	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:45271002T>C	uc001cmn.3	+	13	1800	c.1700T>C	c.(1699-1701)gTc>gCc	p.V567A		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	567	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTGCAGTGGGTCAAGACGGAT	0.602												
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413												
PIK3C2B	5287	broad.mit.edu	37	1	204438072	204438072	+	Frame_Shift_Del	DEL	G	G	-	rs115574296	by1000genomes	TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:204438072delG	uc001haw.3	-	2	1338	c.859delC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_uc010pqv.2_Frame_Shift_Del_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(2)		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)			GCATAGGTGCGGGGGGGCACC	0.622												
LGALS8	3964	broad.mit.edu	37	1	236700824	236700824	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:236700824G>A	uc001hxz.2	+	3	454	c.73G>A	c.(73-75)Gat>Aat	p.D25N	LGALS8_uc001hxw.2_Missense_Mutation_p.D25N|LGALS8_uc001hxy.2_Missense_Mutation_p.D25N|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.D25N|LGALS8_uc001hyc.2_Missense_Mutation_p.D25N	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	25	Galectin 1.					cytoplasm|extracellular space	sugar binding	p.P24P(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACCATTCCTGATCAGCTGGA	0.393												
APBB1IP	54518	broad.mit.edu	37	10	26849669	26849672	+	Frame_Shift_Del	DEL	CTCT	CTCT	-	rs145279460		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:26849669_26849672delCTCT	uc001iss.3	+	12	1586_1589	c.1265_1268delCTCT	c.(1264-1269)actctcfs	p.T422fs		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	422					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TATGGGAAGACTCTCTATGATAAC	0.461												
SYT15	83849	broad.mit.edu	37	10	46965845	46965845	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:46965845G>T	uc001jea.3	-	4	845	c.692C>A	c.(691-693)tCc>tAc	p.S231Y	SYT15_uc001jdz.2_Missense_Mutation_p.S231Y|SYT15_uc001jeb.3_Missense_Mutation_p.S109Y|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	231	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GTGGTAGACGGAGAACTTCAG	0.622												
PTEN	5728	broad.mit.edu	37	10	89692911	89692911	+	Missense_Mutation	SNP	G	G	A	rs121909241		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:89692911G>A	uc001kfb.3	+	4	1427	c.395G>A	c.(394-396)gGt>gAt	p.G132D	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	132	Phosphatase tensin-type.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).		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.G132D(9)|p.?(5)|p.R55fs*1(5)|p.G132V(3)|p.G132S(3)|p.T131fs*3(3)|p.A121_F145del(2)|p.Y27fs*1(2)|p.T131fs*42(2)|p.Y27_N212>Y(2)|p.T131fs*50(1)|p.T131I(1)|p.G132fs*2(1)|p.R130fs*2(1)|p.T131N(1)|p.T131P(1)|p.T131A(1)|p.G132R(1)|p.F56fs*2(1)|p.K128fs*47(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)		GGACGAACTGGTGTAATGATA	0.398		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)		
PSD	5662	broad.mit.edu	37	10	104171572	104171572	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:104171572A>G	uc001kvg.1	-	7	2361	c.1834T>C	c.(1834-1836)Ttt>Ctt	p.F612L	PSD_uc001kvh.1_Missense_Mutation_p.F233L|PSD_uc009xxd.1_Missense_Mutation_p.F612L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	612	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCTTCAGAAACACCCTGGAG	0.582												
OR8K3	219473	broad.mit.edu	37	11	56086192	56086192	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:56086192C>T	uc010rjf.2	+	0	410	c.410C>T	c.(409-411)tCa>tTa	p.S137L		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S137*(2)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTAATCATGTCACGAAGGGTA	0.413												
OR5B3	441608	broad.mit.edu	37	11	58170525	58170525	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:58170525G>A	uc010rkf.2	-	0	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTGCATAGCGGTCATAGGCC	0.468												
CLPB	81570	broad.mit.edu	37	11	72114088	72114088	+	Nonsense_Mutation	SNP	G	G	C			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:72114088G>C	uc001osj.3	-	2	514	c.464C>G	c.(463-465)tCa>tGa	p.S155*	CLPB_uc010rqx.2_Nonsense_Mutation_p.S110*|CLPB_uc010rqy.2_Intron|CLPB_uc001osk.3_Nonsense_Mutation_p.S155*|CLPB_uc010rqz.2_Intron	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	155					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGCACCTTCTGACAACAGCCT	0.458												
MMP1	4312	broad.mit.edu	37	11	102665949	102665949	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:102665949A>T	uc001phi.2	-	5	998	c.855T>A	c.(853-855)gaT>gaA	p.D285E	LOC100288077_uc001phh.1_Non-coding_Transcript|MMP1_uc010ruv.1_Missense_Mutation_p.D219E	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	285	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TAGTTATAGCATCAAAGGTTA	0.403												
DSCAML1	57453	broad.mit.edu	37	11	117329509	117329509	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:117329509C>T	uc001prh.1	-	18	3711	c.3709G>A	c.(3709-3711)Gta>Ata	p.V1237I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1177	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.G1236G(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGCTGCGTACGCCGTCCCCA	0.652												
KIAA1467	57613	broad.mit.edu	37	12	13215874	13215874	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:13215874C>G	uc001rbi.3	+	4	840	c.817C>G	c.(817-819)Cga>Gga	p.R273G	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	273						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGACGGTGTTCGAGACCTTGT	0.448												
PIK3C2G	5288	broad.mit.edu	37	12	18435551	18435551	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:18435551A>G	uc001rdt.3	+	1	652	c.536A>G	c.(535-537)aAt>aGt	p.N179S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.N179S|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	179					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CCTCCAACAAATTCATCCTTC	0.343												
TMEM132D	121256	broad.mit.edu	37	12	129559351	129559351	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:129559351G>A	uc009zyl.1	-	8	2697	c.2369C>T	c.(2368-2370)aCg>aTg	p.T790M	TMEM132D_uc001uia.2_Missense_Mutation_p.T328M	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	790						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GATGTTTGCCGTTCCAACAGC	0.483												
ADCY4	196883	broad.mit.edu	37	14	24787905	24787905	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr14:24787905G>A	uc001wow.3	-	23	3455	c.3036C>T	c.(3034-3036)aaC>aaT	p.N1012N	ADCY4_uc010toh.2_Silent_p.N698N|ADCY4_uc001wox.3_Silent_p.N1012N|ADCY4_uc001woy.3_Silent_p.N1012N	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	1012					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	adenylate cyclase activity|ATP binding|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)		GGCTGGCCACGTTCACTGTGT	0.537												
SERPINA1	5265	broad.mit.edu	37	14	94849557	94849557	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr14:94849557C>T	uc001ycy.4	-	3	572	c.18G>A	c.(16-18)tcG>tcA	p.S6S	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.S6S|SERPINA1_uc010auy.3_Silent_p.S6S|SERPINA1_uc001ycz.4_Silent_p.S6S|SERPINA1_uc010auz.3_Silent_p.S6S|SERPINA1_uc010ava.3_Silent_p.S6S|SERPINA1_uc001ydb.4_Silent_p.S6S|SERPINA1_uc010avb.3_Silent_p.S6S|SERPINA1_uc001ydc.4_Silent_p.S6S|SERPINA1_uc010auw.3_Silent_p.S6S|SERPINA1_uc010aux.3_Silent_p.S6S|SERPINA1_uc001yda.1_Silent_p.S6S	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.	6					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)	GGATGCCCCACGAGACAGAAG	0.612												
RYR3	6263	broad.mit.edu	37	15	34064164	34064164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr15:34064164C>T	uc001zhi.3	+	62	8930	c.8860C>T	c.(8860-8862)Cga>Tga	p.R2954*	RYR3_uc010bar.3_Nonsense_Mutation_p.R2954*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2954					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)		GGCTGGGTTACGAGCATTCTT	0.448												
ODF4	146852	broad.mit.edu	37	17	8243551	8243551	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:8243551G>A	uc002gle.1	+	0	364	c.182G>A	c.(181-183)cGc>cAc	p.R61H		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	61					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R61S(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						TTGGGCCAGCGCCAGAACTCT	0.587												
PPP1R1B	84152	broad.mit.edu	37	17	37791907	37791907	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:37791907C>T	uc002hrz.3	+	5	962	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	PPP1R1B_uc010cvx.3_Missense_Mutation_p.R132C|PPP1R1B_uc002hsb.3_Missense_Mutation_p.R129C|PPP1R1B_uc002hsc.3_Missense_Mutation_p.R129C|STARD3_uc010weg.2_5'Flank|STARD3_uc010wei.2_5'Flank|STARD3_uc002hsd.3_5'Flank|STARD3_uc002hse.3_5'Flank|STARD3_uc010weh.2_5'Flank	NM_032192	NP_852606	Q9UD71	PPR1B_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA.	165					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	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)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCCTGGGAGCGCCCACCCCC	0.582												
INTS2	57508	broad.mit.edu	37	17	59952385	59952385	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:59952385G>A	uc002izn.3	-	18	2571	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M	INTS2_uc002izm.3_Missense_Mutation_p.T824M	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	832					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGCATTAACCGTCATTACCCA	0.343												
TANC2	26115	broad.mit.edu	37	17	61271350	61271350	+	Splice_Site	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:61271350A>G	uc002jal.4	+	4	235	c.212_splice	c.e4-2	p.G71_splice	TANC2_uc010wpe.2_5'Flank	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	71							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						TTCTTGTTACAGGTGATGCTG	0.423												
PCYT2	5833	broad.mit.edu	37	17	79864762	79864762	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:79864762G>A	uc002kcf.2	-	6	659	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	PCYT2_uc010wvb.2_Missense_Mutation_p.R152W|PCYT2_uc002kce.2_Missense_Mutation_p.R106W|PCYT2_uc002kch.2_Missense_Mutation_p.R202W|PCYT2_uc002kci.2_Missense_Mutation_p.R143W|PCYT2_uc010wvc.2_Missense_Mutation_p.R106W	NM_002861	NP_002852	Q99447	PCY2_HUMAN	Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA.	184	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CAGGGGTTCCGCCCACCAGGG	0.622												
DSC3	1825	broad.mit.edu	37	18	28605880	28605880	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr18:28605880A>G	uc002kwj.4	-	5	630	c.475_splice	c.e5-1	p.V159_splice	DSC3_uc002kwi.4_Splice_Site_p.V159_splice	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	159	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATCAGATTCAACCTAAAAGTA	0.264												
DSG4	147409	broad.mit.edu	37	18	28991295	28991295	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr18:28991295G>A	uc002kwr.2	+	13	2431	c.2296G>A	c.(2296-2298)Gca>Aca	p.A766T	DSG4_uc002kwq.2_Missense_Mutation_p.A747T	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	747					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.A747T(1)|p.A766T(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTCATggccgcaggggccgc	0.612												
POLRMT	5442	broad.mit.edu	37	19	618520	618522	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:618520_618522delGGA	uc002lpf.1	-	16	3444_3446	c.3388_3390delTCC	c.(3388-3390)tccdel	p.S1130del		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	1130	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		GCATCATGTGGGAGGAGTCCAGC	0.660												
ZNF681	148213	broad.mit.edu	37	19	23927954	23927954	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:23927954C>T	uc002nrk.4	-	3	540	c.398G>A	c.(397-399)tGt>tAt	p.C133Y	ZNF681_uc002nrl.4_Missense_Mutation_p.C64Y|ZNF681_uc002nrj.4_Missense_Mutation_p.C64Y	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTTGGCAAACATTGGTTAAG	0.313												
PRODH2	58510	broad.mit.edu	37	19	36293096	36293096	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:36293096G>A	uc002obx.1	-	9	1441	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	475					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACATACCCAGTGCTAGAGAG	0.577												
PSG7	5676	broad.mit.edu	37	19	43439731	43439731	+	Silent	SNP	G	G	A	rs140238439	by1000genomes	TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:43439731G>A	uc002ovl.4	-	1	357	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	85	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				TTATTTGACCGTCTACTATAT	0.418												
PVR	5817	broad.mit.edu	37	19	45153193	45153193	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:45153193C>T	uc002ozm.3	+	2	839	c.540C>T	c.(538-540)caC>caT	p.H180H	PVR_uc010ejs.3_Silent_p.H180H|PVR_uc010xxb.2_Silent_p.H180H|PVR_uc010xxc.2_Silent_p.H180H|PVR_uc002ozn.3_Silent_p.H125H	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	180	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCACCTGGCACTCAGACCTGG	0.632												
VSTM1	284415	broad.mit.edu	37	19	54567025	54567025	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:54567025C>T	uc002qcw.4	-	0	183	c.7G>A	c.(7-9)Gca>Aca	p.A3T	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_5'UTR|VSTM1_uc002qcx.4_Missense_Mutation_p.A3T|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Missense_Mutation_p.A3T	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	3						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGGAATTCTGCGGTCATAGCG	0.627												
GPR17	2840	broad.mit.edu	37	2	128408657	128408657	+	Silent	SNP	C	C	T	rs61749508		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:128408657C>T	uc010yzn.2	+	3	1043	c.432C>T	c.(430-432)taC>taT	p.Y144Y	LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Silent_p.Y144Y|GPR17_uc010yzo.2_Silent_p.Y116Y|GPR17_uc002tpd.3_Silent_p.Y116Y	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	144						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCAACATGTACGCCAGCATCT	0.602												
TTN	7273	broad.mit.edu	37	2	179548796	179548796	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:179548796C>T	uc021vsy.1	-	129	29229	c.29004G>A	c.(29002-29004)ccG>ccA	p.P9668P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P6329P|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10595	Ig-like 78.						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)			CAGCTCTCTTCGGTTCCTCTG	0.368												
ASIC4	55515	broad.mit.edu	37	2	220379838	220379838	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:220379838C>T	uc002vlz.3	+	0	947	c.773C>T	c.(772-774)gCc>gTc	p.A258V	ASIC4_uc010fwi.2_Missense_Mutation_p.A258V|ASIC4_uc010fwj.2_Missense_Mutation_p.A258V|ASIC4_uc002vly.2_Missense_Mutation_p.A258V|ASIC4_uc002vma.3_Missense_Mutation_p.A258V|ASIC4_uc002vmb.3_5'Flank	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	258						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CTCAGCGATGCCGACATCTTC	0.657												
SLCO4A1	28231	broad.mit.edu	37	20	61297841	61297841	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr20:61297841C>T	uc002ydb.1	+	6	1591	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	LOC100127888_uc002ydd.3_Non-coding_Transcript|SLCO4A1_uc002yde.1_5'Flank	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	462					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TGTTCTGCACCGTTGTCAGCC	0.652												
OSM	5008	broad.mit.edu	37	22	30660354	30660354	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr22:30660354G>A	uc003ahb.3	-	2	318	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	93					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	p.R93R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			AGGAAGCCCCGCCTGCCCAGC	0.642												
CX3CR1	1524	broad.mit.edu	37	3	39307959	39307959	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:39307959G>A	uc021wwc.1	-	1	178	c.138C>T	c.(136-138)taC>taT	p.Y46Y	CX3CR1_uc021wwa.1_Silent_p.Y14Y|CX3CR1_uc021wwb.1_Silent_p.Y14Y|CX3CR1_uc003cjl.3_Silent_p.Y14Y|CX3CR1_uc021wwd.1_Silent_p.Y14Y	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	14					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCAAATCATCGTACTCAAAGT	0.443												
WDR82	80335	broad.mit.edu	37	3	52292683	52292683	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:52292683C>T	uc003ddl.2	-	7	1063	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	WDR82_uc003ddk.2_Missense_Mutation_p.G186S	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	Homo sapiens WD repeat domain 82 (WDR82), mRNA.	261					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGGATCTTGCCATCCTCTGAA	0.438												
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:129695840G>A	uc003enc.3	+	2	1071	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(2)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642												
GFM1	85476	broad.mit.edu	37	3	158378683	158378683	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:158378683C>T	uc003fce.3	+	9	1349	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	GFM1_uc003fcd.3_Silent_p.A414A|GFM1_uc003fcg.3_Silent_p.A345A	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	414					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AAGTATATGCCGGAGACATCT	0.353												
FGG	2266	broad.mit.edu	37	4	155528019	155528019	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr4:155528019C>T	uc003ioj.3	-	7	1108	c.967G>A	c.(967-969)Gat>Aat	p.D323N	FGG_uc003iog.3_Missense_Mutation_p.D323N	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	323	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTAGGATCATCGCCAAAATCA	0.468												
IRX4	50805	broad.mit.edu	37	5	1880903	1880903	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:1880903G>A	uc003jcz.2	-	2	462	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	IRX4_uc011cmf.1_5'UTR	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	115					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCTGGTGCCAGGCCCCCATGC	0.622												
TRPC7	57113	broad.mit.edu	37	5	135692954	135692954	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:135692954G>A	uc003lbn.2	-	1	344	c.122C>T	c.(121-123)aCg>aTg	p.T41M	TRPC7_uc010jef.2_Missense_Mutation_p.T32M|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.T41M|TRPC7_uc010jei.2_Missense_Mutation_p.T41M	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	41					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCTCGGGCGTCAGACTGGT	0.602												
PCDHGC5	56109	broad.mit.edu	37	5	140754770	140754770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:140754770C>T	uc003ljy.2	+	0	1120	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	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_uc011dau.2_Nonsense_Mutation_p.R374*	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	377	Cadherin 4.				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)			AGTGTTCGATCGAGACTCTGG	0.428												
FBXO38	81545	broad.mit.edu	37	5	147807296	147807296	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:147807296C>T	uc003lpf.1	+	14	2559	c.2439C>T	c.(2437-2439)tcC>tcT	p.S813S	FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	813						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACGAGATCCGCCTTTTCCT	0.567												
FAM54A	113115	broad.mit.edu	37	6	136554632	136554632	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr6:136554632G>A	uc010kgp.1	-	6	1265	c.875C>T	c.(874-876)cCt>cTt	p.P292L	FAM54A_uc003qgt.1_Missense_Mutation_p.P292L|FAM54A_uc003qgu.1_Missense_Mutation_p.P249L	NM_001099286	NP_612428	Q6P444	FA54A_HUMAN	Homo sapiens family with sequence similarity 54, member A (FAM54A), transcript variant 1, mRNA.	292										endometrium(2)|kidney(1)|large_intestine(5)|lung(1)|skin(2)	11	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)		TCTACCGCCAGGTGACCtatt	0.318												
SDK1	221935	broad.mit.edu	37	7	3991529	3991529	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:3991529C>T	uc003smx.3	+	6	1266	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	376	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCGGCCAGGGCGACGGCCTTT	0.577												
CALCR	799	broad.mit.edu	37	7	93055883	93055883	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:93055883G>A	uc003umv.2	-	15	1612	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R404C|CALCR_uc003umw.2_Missense_Mutation_p.R404C	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	420					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.R438C(1)|p.R404C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCCCATTGGCGCTTCACGGTG	0.537												
KIAA1549	57670	broad.mit.edu	37	7	138593736	138593736	+	Splice_Site	SNP	C	C	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:138593736C>A	uc011kql.2	-	5	3325	c.3276_splice	c.e5+1	p.Q1092_splice	KIAA1549_uc011kqj.2_Splice_Site_p.Q1092_splice	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1092						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GATATTCTCACCTGCACCGTG	0.468			O	BRAF	pilocytic astrocytoma							
PRKAG2	51422	broad.mit.edu	37	7	151261177	151261177	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:151261177A>T	uc003wkk.3	-	13	2182	c.1571T>A	c.(1570-1572)aTa>aAa	p.I524K	PRKAG2_uc003wki.3_Missense_Mutation_p.I283K|PRKAG2_uc011kvl.2_Missense_Mutation_p.I399K|PRKAG2_uc003wkj.3_Missense_Mutation_p.I480K|PRKAG2_uc003wkl.2_Missense_Mutation_p.I72K	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	524	CBS 4.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AGCTCTTACTATTCTGTCCAC	0.517												
FRMD3	257019	broad.mit.edu	37	9	85913683	85913683	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr9:85913683C>T	uc004ams.2	-	11	1252	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	FRMD3_uc004amr.1_Silent_p.R350R|FRMD3_uc022bja.1_Silent_p.R306R|FRMD3_uc022biz.1_Silent_p.R156R	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	350						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CAGGAGGCTCCCTCTGGATCT	0.493												
LRRC8A	56262	broad.mit.edu	37	9	131669841	131669841	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr9:131669841C>T	uc004bwl.4	+	2	652	c.398C>T	c.(397-399)aCg>aTg	p.T133M	LRRC8A_uc010myp.3_Missense_Mutation_p.T133M|LRRC8A_uc010myq.3_Missense_Mutation_p.T133M	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	133					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTTCTGCACACGCTCATCTTC	0.557