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
CLCN6	1185	broad.mit.edu	37	1	11897139	11897139	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:11897139C>T	uc001ate.4	+	18	2177	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	CLCN6_uc010oat.2_Silent_p.N404N|CLCN6_uc010oau.2_Silent_p.N666N	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	688					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTACGGAACATGTGTGATG	0.632												
PADI3	51702	broad.mit.edu	37	1	17609431	17609431	+	Missense_Mutation	SNP	C	C	T	rs144763474	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:17609431C>T	uc001bai.3	+	15	1892	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	618			R -> Q (in dbSNP:rs35624745).		peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGAGAAGGTGCGGTCCCTGCT	0.602												
CNR2	1269	broad.mit.edu	37	1	24202118	24202118	+	Translation_Start_Site	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:24202118C>A	uc021oij.1	-						CNR2_uc001bif.3_5'UTR	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.						behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGGGTGGGCCCTTCAGATTCC	0.458												
TMEM57	55219	broad.mit.edu	37	1	25784890	25784890	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:25784890G>A	uc001bkk.3	+	5	863	c.661G>A	c.(661-663)Gga>Aga	p.G221R	TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	221						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGCCAAAGGATTACCTGA	0.378												
SRSF11	9295	broad.mit.edu	37	1	70716405	70716405	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:70716405G>T	uc001des.3	+	12	1496	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	SRSF11_uc001det.3_Nonsense_Mutation_p.E457*|SRSF11_uc001dev.3_Nonsense_Mutation_p.E268*|SRSF11_uc001dew.3_Nonsense_Mutation_p.E398*	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	458					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						ATGTTCTGTGGAAAAGGGAAC	0.398												
C1orf173	127254	broad.mit.edu	37	1	75037396	75037396	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:75037396C>T	uc001dgg.3	-	13	4217	c.3998G>A	c.(3997-3999)gGa>gAa	p.G1333E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1333	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCCTCCTCCCATGCCCTC	0.562												
FNDC7	163479	broad.mit.edu	37	1	109270578	109270578	+	Silent	SNP	G	G	A	rs151239518	by1000genomes	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:109270578G>A	uc001dvx.3	+	6	1260	c.1260G>A	c.(1258-1260)gcG>gcA	p.A420A	FNDC7_uc010ova.2_Silent_p.A187A	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	421	Fibronectin type-III 5.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTACTCCTGCGTGCACCCTTT	0.483												
FLG	2312	broad.mit.edu	37	1	152276186	152276186	+	Missense_Mutation	SNP	G	G	A	rs145171931	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:152276186G>A	uc001ezu.1	-	2	11212	c.11176C>T	c.(11176-11178)Cgg>Tgg	p.R3726W		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3726	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAGCCCGTCCATGGGCA	0.607									Ichthyosis			
NUF2	83540	broad.mit.edu	37	1	163306614	163306614	+	Silent	SNP	G	G	A	rs148215962		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:163306614G>A	uc001gcq.1	+	5	711	c.411G>A	c.(409-411)acG>acA	p.T137T	NUF2_uc001gcr.1_Silent_p.T137T	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	137	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GCCGTGAAACGTATATGGAAT	0.313												
PAPPA2	60676	broad.mit.edu	37	1	176734853	176734853	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:176734853T>C	uc001gkz.3	+	14	5367	c.4203T>C	c.(4201-4203)ctT>ctC	p.L1401L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1401	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATTGCTGCTTGATCATGCTG	0.507												
SLC45A3	85414	broad.mit.edu	37	1	205632180	205632180	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:205632180G>A	uc001hda.1	-	2	1078	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.R81C|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	247					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AAAGCCAAGCGGGCCCGGCAT	0.716			T	"""ETV1, ETV5, ELK4, ERG"""	prostate							
LEFTY2	7044	broad.mit.edu	37	1	226125177	226125177	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:226125177C>T	uc001hpt.2	-	3	1308	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	LEFTY2_uc010pvk.2_Silent_p.S321S|LEFTY2_uc009xek.2_3'UTR	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	355					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCGCCCCATCCGAGGCACAGC	0.602												
OR2M1P	388762	broad.mit.edu	37	1	248285934	248285934	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:248285934G>A	uc001idy.1	+	0	497	c.497G>A	c.(496-498)cGt>cAt	p.R166H						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		GGAGAGGGTCGTCGCAAAGCT	0.468												
OR2M2	391194	broad.mit.edu	37	1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:248343988G>A	uc010pzf.2	+	0	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234H(4)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468												
OR2T27	403239	broad.mit.edu	37	1	248813409	248813409	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:248813409G>A	uc010pzo.2	-	0	777	c.777C>T	c.(775-777)taC>taT	p.Y259Y		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGCAGCACGTATGTGTACA	0.532												
MYO3A	53904	broad.mit.edu	37	10	26315330	26315330	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:26315330delG	uc001isn.2	+	9	1182	c.822delG	c.(820-822)aagfs	p.K274fs	MYO3A_uc009xko.1_Frame_Shift_Del_p.K274fs|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Frame_Shift_Del_p.K274fs	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	274	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTATGAAAAGCGTCCAACAG	0.328												
PTEN	5728	broad.mit.edu	37	10	89725130	89725130	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:89725130delC	uc001kfb.3	+	8	2145	c.1113delC	c.(1111-1113)gacfs	p.D371fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	371					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.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(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)		ATGTTAGTGACAATGAACCTG	0.388		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)		
HTR7	3363	broad.mit.edu	37	10	92508680	92508680	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:92508680C>T	uc001kha.3	-	1	1454	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	HTR7_uc001kgz.3_Missense_Mutation_p.R404Q|HTR7_uc001khb.3_Missense_Mutation_p.R404Q	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	404					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	p.R404R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GTTGATATTCCGGTACTGGCA	0.507												
OR4D10	390197	broad.mit.edu	37	11	59245250	59245250	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr11:59245250G>A	uc001nnz.1	+	0	348	c.348G>A	c.(346-348)tcG>tcA	p.S116S		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTCTTTCGGTGATGGCAT	0.473												
ATM	472	broad.mit.edu	37	11	108199882	108199882	+	Frame_Shift_Del	DEL	G	G	-	rs145747513	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr11:108199882delG	uc001pkb.1	+	48	7609	c.7224delG	c.(7222-7224)tcgfs	p.S2408fs	ATM_uc009yxr.1_Frame_Shift_Del_p.S2408fs|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Frame_Shift_Del_p.S1060fs|ATM_uc001pkg.1_Frame_Shift_Del_p.S765fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2408	FAT.		S -> L (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.S2408L(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGAAATCATCGGAATTTGAAA	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)		
LOC642846	642846	broad.mit.edu	37	12	9447432	9447432	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:9447432C>G	uc010sgq.1	+	4	513	c.422C>G	c.(421-423)aCa>aGa	p.T141R	LOC642846_uc010sgp.1_Non-coding_Transcript|LOC642846_uc009zgn.1_5'UTR|LOC642846_uc001qvo.2_5'UTR					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.									p.T167R(1)									GAAGAAGAAACAGAGAATCTC	0.632												
ST8SIA1	6489	broad.mit.edu	37	12	22354787	22354787	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:22354787C>T	uc001rfo.4	-	4	1252	c.770G>A	c.(769-771)cGt>cAt	p.R257H	ST8SIA1_uc009zix.3_Missense_Mutation_p.R114H	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	257					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.R257C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TCCAATGCTACGCAGAAAGTT	0.478												
SRGAP1	57522	broad.mit.edu	37	12	64502748	64502748	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:64502748G>A	uc010ssp.1	+	15	1906	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	SRGAP1_uc001srv.2_Missense_Mutation_p.R554H	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	617	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCACATCCGCAAACTCCTC	0.463												
GRIP1	23426	broad.mit.edu	37	12	66765507	66765507	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:66765507C>T	uc001stk.3	-	21	3064	c.2823G>A	c.(2821-2823)gaG>gaA	p.E941E	GRIP1_uc010sta.1_Silent_p.E885E|GRIP1_uc001stj.3_Silent_p.E708E|GRIP1_uc001stm.3_Silent_p.E926E|GRIP1_uc001stl.1_Silent_p.E818E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	993					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GAGACATGATCTCCTTTATTT	0.493												
C12orf43	64897	broad.mit.edu	37	12	121444130	121444130	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:121444130C>T	uc009zxa.1	-	3	471	c.448G>A	c.(448-450)Gat>Aat	p.D150N	C12orf43_uc001tzh.1_Missense_Mutation_p.D119N|C12orf43_uc010szo.1_Missense_Mutation_p.D77N|C12orf43_uc010szp.1_Missense_Mutation_p.D119N|C12orf43_uc001tzi.1_Missense_Mutation_p.D119N	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	119	Poly-Ser.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCACCATCATCCTCCAAAGCG	0.403												
RNF17	56163	broad.mit.edu	37	13	25419167	25419167	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr13:25419167T>A	uc001upr.3	+	21	3092	c.3051T>A	c.(3049-3051)aaT>aaA	p.N1017K	RNF17_uc010tdd.1_Missense_Mutation_p.N876K|RNF17_uc010tde.2_Missense_Mutation_p.N1017K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.N956K|RNF17_uc010aac.3_Missense_Mutation_p.N215K|RNF17_uc010aad.3_Missense_Mutation_p.N69K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1017	Tudor 2.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTGAAGAAAATCTAAAGACAA	0.308												
TEP1	7011	broad.mit.edu	37	14	20873722	20873722	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:20873722C>G	uc001vxe.3	-	3	798	c.758G>C	c.(757-759)tGc>tCc	p.C253S	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.C253S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	253	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGAGTAGAGCACAGCAAGCT	0.468												
TEP1	7011	broad.mit.edu	37	14	20873724	20873724	+	Silent	SNP	C	C	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:20873724C>G	uc001vxe.3	-	3	796	c.756G>C	c.(754-756)ctG>ctC	p.L252L	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.L252L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	252	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGTAGAGCACAGCAAGCTCA	0.463												
NOVA1	4857	broad.mit.edu	37	14	26941562	26941562	+	Silent	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:26941562A>C	uc001wqa.3	-	4	903	c.117T>G	c.(115-117)tcT>tcG	p.S39S	NOVA1_uc001wpy.3_Silent_p.S161S|NOVA1_uc001wpz.3_Intron|NOVA1_uc001wqb.3_Silent_p.S161S	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	164					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GATCAGATGGAGAGGACTTGG	0.428												
RTN1	6252	broad.mit.edu	37	14	60212931	60212931	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:60212931C>G	uc001xen.1	-	1	719	c.510G>C	c.(508-510)atG>atC	p.M170I		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	170					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGCAGGAGTCATCTCTATTC	0.512												
RTN1	6252	broad.mit.edu	37	14	60213169	60213169	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:60213169T>C	uc001xen.1	-	1	481	c.272A>G	c.(271-273)cAc>cGc	p.H91R		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	91					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGAGAAGGTGTGGTCCATGGC	0.478												
SYNE2	23224	broad.mit.edu	37	14	64430685	64430685	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:64430685T>C	uc001xgl.3	+	9	1187	c.957T>C	c.(955-957)gaT>gaC	p.D319D	SYNE2_uc001xgm.3_Silent_p.D319D|SYNE2_uc021ruh.1_Silent_p.D319D	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	319					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCTAAAGGATTCAGAGAATG	0.308												
NEDD4	4734	broad.mit.edu	37	15	56132880	56132880	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr15:56132880G>A	uc002adj.3	-	15	3441	c.3141C>T	c.(3139-3141)aaC>aaT	p.N1047N	NEDD4_uc002adl.3_Silent_p.N628N|NEDD4_uc002adi.3_Silent_p.N975N|NEDD4_uc010ugj.2_Silent_p.N1031N|NEDD4_uc010bfm.3_Silent_p.N1030N|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	1047	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGTGATCTTCGTTACACAATC	0.338												
HS3ST6	64711	broad.mit.edu	37	16	1962204	1962204	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr16:1962204C>A	uc002cnf.3	-	1	323	c.323G>T	c.(322-324)aGt>aTt	p.S108I	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	108										endometrium(2)|lung(2)	4						GGGCATCAGACTCCTGCGGGA	0.706												
PHF12	57649	broad.mit.edu	37	17	27240276	27240276	+	Missense_Mutation	SNP	G	G	A	rs141809044		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:27240276G>A	uc002hdg.1	-	8	1843	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V	PHF12_uc010wbb.1_Missense_Mutation_p.A420V|PHF12_uc002hdi.1_Missense_Mutation_p.A434V|PHF12_uc002hdj.1_Missense_Mutation_p.A438V|PHF12_uc010crw.1_Missense_Mutation_p.A141V|PHF12_uc002hdh.1_Missense_Mutation_p.A221V	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	438	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	p.A438A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCACTGGAGCGCAACAACACT	0.532												
ACACA	31	broad.mit.edu	37	17	35633950	35633950	+	Silent	SNP	A	A	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:35633950A>G	uc002hnm.3	-	6	858	c.667T>C	c.(667-669)Ttg>Ctg	p.L223L	ACACA_uc002hnk.3_Silent_p.L145L|ACACA_uc002hnl.3_Silent_p.L165L|ACACA_uc002hnn.3_Silent_p.L223L|ACACA_uc002hno.3_Silent_p.L260L|ACACA_uc010cuz.3_Silent_p.L223L|ACACA_uc002hnq.2_Silent_p.L145L	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	223	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCATTTTTCAAGAGAAGTTCC	0.403												
KRTAP4-7	100132476	broad.mit.edu	37	17	39240673	39240673	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:39240673C>T	uc010wfn.2	+	0	215	c.215C>T	c.(214-216)aCg>aTg	p.T72M		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGCTGTGAGACGACctgctgc	0.652												
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:39261693A>T	uc010wfp.2	+	0	53	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	18						keratin filament		p.D18V(2)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627												
COL1A1	1277	broad.mit.edu	37	17	48263379	48263379	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:48263379G>A	uc002iqm.3	-	49	4134	c.4008C>T	c.(4006-4008)ttC>ttT	p.F1336F	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1336	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGCCATACTCGAACTGCAGGG	0.637			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta					
ABCC3	8714	broad.mit.edu	37	17	48757178	48757178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:48757178G>A	uc002isl.3	+	25	3805	c.3725G>A	c.(3724-3726)tGg>tAg	p.W1242*	ABCC3_uc002isn.3_5'UTR	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1242	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTCTGAACTGGATGATACGA	0.517												
SOX9	6662	broad.mit.edu	37	17	70120351	70120351	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:70120351C>T	uc002jiw.3	+	2	1725	c.1353C>T	c.(1351-1353)taC>taT	p.Y451Y		NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	451					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCAGCTCCTACTACAGCCACG	0.637												
SEPT9	10801	broad.mit.edu	37	17	75398771	75398771	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:75398771C>T	uc002jts.4	+	2	833	c.707C>T	c.(706-708)cCc>cTc	p.P236L	SEPT9_uc010wtk.2_Missense_Mutation_p.P217L|SEPT9_uc002jtt.4_Missense_Mutation_p.P72L|SEPT9_uc002jtu.4_Missense_Mutation_p.P218L|SEPT9_uc002jtv.3_Missense_Mutation_p.P229L|SEPT9_uc002jtw.3_Missense_Mutation_p.P72L|SEPT9_uc002jtx.1_Missense_Mutation_p.P72L|SEPT9_uc010wtl.2_5'Flank	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	236					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	p.A235V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GAGGCTACACCCCGGAGCCAG	0.627												
GAA	2548	broad.mit.edu	37	17	78083809	78083809	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:78083809G>A	uc002jxp.3	+	8	1759	c.1392G>A	c.(1390-1392)agG>agA	p.R464R	GAA_uc002jxo.3_Silent_p.R464R|GAA_uc002jxq.3_Silent_p.R464R	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	464					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GTCTGCGGAGGGGGGTTTTCA	0.657												
SMCHD1	23347	broad.mit.edu	37	18	2700844	2700844	+	Missense_Mutation	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr18:2700844A>C	uc002klm.4	+	11	1764	c.1575A>C	c.(1573-1575)aaA>aaC	p.K525N	SMCHD1_uc002klk.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	525					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCACAAATAAATTGACGTTTA	0.338												
CIDEA	1149	broad.mit.edu	37	18	12274238	12274238	+	Silent	SNP	C	C	T	rs143526030	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr18:12274238C>T	uc002kqt.4	+	3	542	c.477C>T	c.(475-477)taC>taT	p.Y159Y	CIDEA_uc002kqu.4_Silent_p.Y193Y|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	159					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CCGTGTCCTACGACATCCGGT	0.587												
TICAM1	148022	broad.mit.edu	37	19	4817811	4817811	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:4817811G>A	uc002mbi.3	-	1	830	c.579C>T	c.(577-579)tcC>tcT	p.S193S	TICAM1_uc021unj.1_Silent_p.S193S	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	193					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGGATCGCAGGGAGCACCCTT	0.652												
MUC16	94025	broad.mit.edu	37	19	9058146	9058146	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:9058146T>C	uc002mkp.3	-	2	29504	c.29300A>G	c.(29299-29301)aAg>aGg	p.K9767R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9769	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGTAGTCTTCACCAGGCC	0.493												
MUC16	94025	broad.mit.edu	37	19	9084687	9084687	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:9084687G>A	uc002mkp.3	-	0	7332	c.7128C>T	c.(7126-7128)acC>acT	p.T2376T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2376	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGCTATGGAGGTGTTGATCA	0.438												
IL28B	282617	broad.mit.edu	37	19	39734655	39734655	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:39734655C>T	uc010xut.2	-	2	403	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	IL28B_uc010xuu.2_Missense_Mutation_p.R134Q	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	134					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CACACAGGCCCGGAGCTGGGA	0.667												
KLC3	147700	broad.mit.edu	37	19	45853908	45853908	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:45853908C>T	uc002pbg.1	+	9	1424	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	KLC3_uc002pbf.1_Missense_Mutation_p.R428C|KLC3_uc010ejy.1_Missense_Mutation_p.R427C	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	Homo sapiens kinesin light chain 3 (KLC3), mRNA.	428						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCCTTCGCCGCAGCAGCTC	0.692												
TMEM143	55260	broad.mit.edu	37	19	48845929	48845929	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:48845929C>T	uc002pix.1	-	5	842	c.833G>A	c.(832-834)cGc>cAc	p.R278H	TMEM143_uc002piw.1_Intron|TMEM143_uc010xzn.1_Missense_Mutation_p.R213H|TMEM143_uc010elw.1_Missense_Mutation_p.R178H|TMEM143_uc010xzo.1_Missense_Mutation_p.R68H|TMEM143_uc002piy.1_Missense_Mutation_p.R243H|Mir_324_uc021uws.1_5'Flank	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	278						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GAGCAGGGCGCGCTGCAGGGT	0.637												
TMEM150B	284417	broad.mit.edu	37	19	55828201	55828201	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:55828201G>A	uc010esw.1	-	6	631	c.458C>T	c.(457-459)cCc>cTc	p.P153L	TMEM150B_uc010yfu.1_Missense_Mutation_p.P153L|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	153						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CAGGCGGAGGGGCCCAATCCA	0.617												
DCTN1	1639	broad.mit.edu	37	2	74598790	74598790	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:74598790C>T	uc002skx.3	-	7	837	c.519G>A	c.(517-519)gcG>gcA	p.A173A	DCTN1_uc002skv.3_Silent_p.A39A|DCTN1_uc002sku.3_Silent_p.A39A|DCTN1_uc002skw.2_Silent_p.A166A|DCTN1_uc010ffd.3_Silent_p.A153A|DCTN1_uc002sky.3_Silent_p.A136A	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	173	Ser-rich.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CACCTGCTGACGCTGAGCCAG	0.652												
IL1RL2	8808	broad.mit.edu	37	2	102849423	102849423	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:102849423A>T	uc002tbs.3	+	10	1262	c.1136_splice	c.e10-1	p.D379_splice	IL1RL2_uc002tbt.3_Splice_Site_p.D261_splice	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	379					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCTTTTCAGATGGGAAGCTG	0.507												
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612												
TTN	7273	broad.mit.edu	37	2	179446667	179446667	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:179446667G>A	uc021vsy.1	-	263	58950	c.58725C>T	c.(58723-58725)gaC>gaT	p.D19575D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D13270D|TTN_uc021vta.1_Silent_p.D13203D|TTN_uc021vtb.1_Silent_p.D13078D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20502	Ig-like 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D13078D(1)|p.D13203D(1)|p.D19573D(1)|p.D13270D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGGATGCGTCACTGGGTT	0.438												
TTN	7273	broad.mit.edu	37	2	179666963	179666963	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:179666963G>A	uc021vsy.1	-	2	422	c.197C>T	c.(196-198)aCg>aTg	p.T66M	TTN_uc021vsz.1_Missense_Mutation_p.T66M|TTN_uc021vta.1_Missense_Mutation_p.T66M|TTN_uc021vtb.1_Missense_Mutation_p.T66M|TTN_uc002unb.2_Missense_Mutation_p.T66M|TTN_uc002und.3_Missense_Mutation_p.T66M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	66	Ig-like 1.						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)			GGCGGGGATCGTCAGTTTAGC	0.547												
SIRPD	128646	broad.mit.edu	37	20	1517818	1517818	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr20:1517818C>T	uc002wfi.3	-	2	604	c.560G>A	c.(559-561)cGg>cAg	p.R187Q		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	187						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TCCCAGCAGCCGGAGGCAGCA	0.612												
C20orf132	140699	broad.mit.edu	37	20	35776290	35776290	+	Missense_Mutation	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr20:35776290A>C	uc010zvu.2	-	10	1188	c.1097T>G	c.(1096-1098)cTt>cGt	p.L366R	C20orf132_uc002xgk.3_Missense_Mutation_p.L49R|C20orf132_uc002xgm.2_Missense_Mutation_p.L366R|C20orf132_uc002xgn.2_Missense_Mutation_p.L331R	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	251								p.R366R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TAGGTGTCCAAGTCTTTGGAA	0.478												
PLXNB2	23654	broad.mit.edu	37	22	50717405	50717405	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr22:50717405G>A	uc003bkv.4	-	27	4518	c.4425C>T	c.(4423-4425)gaC>gaT	p.D1475D	PLXNB2_uc003bkt.1_Silent_p.D267D|PLXNB2_uc003bku.1_Silent_p.D460D	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1475					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGGGATGGCGTCCACTCCCT	0.622												
DCLK3	85443	broad.mit.edu	37	3	36779980	36779980	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:36779980G>A	uc003cgi.2	-	1	662	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	57						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGGGGTCTCGGTCTCCCCAC	0.617												
GOLGA4	2803	broad.mit.edu	37	3	37360647	37360647	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:37360647C>T	uc003cgv.3	+	11	1867	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgw.3_Nonsense_Mutation_p.R525*|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Nonsense_Mutation_p.R384*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	503	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTTCAGACCCGAGAAAGGGA	0.378												
VIPR1	7433	broad.mit.edu	37	3	42567437	42567437	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:42567437G>A	uc003clf.2	+	3	475	c.351G>A	c.(349-351)ccG>ccA	p.P117P	VIPR1_uc021wwl.1_Silent_p.P76P|VIPR1_uc011azn.2_Silent_p.P90P|VIPR1_uc011azl.1_Silent_p.P70P|VIPR1_uc011azm.1_5'UTR	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	117					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		AGCCTGGCCCGTACCCCATTG	0.662												
GRM2	2912	broad.mit.edu	37	3	51746533	51746533	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:51746533C>T	uc010hlv.3	+	2	734	c.495C>T	c.(493-495)taC>taT	p.Y165Y	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	165					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AGATTAGCTACGCCTCTACCA	0.532												
TRAT1	50852	broad.mit.edu	37	3	108572525	108572525	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:108572525G>A	uc003dxi.1	+	5	506	c.362G>A	c.(361-363)cGt>cAt	p.R121H	TRAT1_uc010hpx.1_Missense_Mutation_p.R84H	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	121					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AAGGGGAAGCGTAGAAAGCCC	0.423												
GPR156	165829	broad.mit.edu	37	3	119962857	119962857	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:119962857G>A	uc011bjf.2	-	0	469	c.89C>T	c.(88-90)aCa>aTa	p.T30I	GPR156_uc011bjg.2_Missense_Mutation_p.T30I	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	30						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TACAATTGTTGTCTTGCAGAG	0.537												
DBR1	51163	broad.mit.edu	37	3	137890532	137890532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:137890532G>A	uc003erv.3	-	2	500	c.346C>T	c.(346-348)Cga>Tga	p.R116*	DBR1_uc003eru.3_Nonsense_Mutation_p.R65*	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	116						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CTTACACCTCGGTATTTTACC	0.343												
CLSTN2	64084	broad.mit.edu	37	3	140185512	140185512	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:140185512G>A	uc003etn.3	+	7	1473	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	CLSTN2_uc003etm.2_Missense_Mutation_p.R428Q	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	428					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTTCTCTTGCGGAAGGACTTC	0.542										HNSCC(16;0.037)		
ZBBX	79740	broad.mit.edu	37	3	167083682	167083682	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:167083682C>A	uc011bpc.2	-	5	602	c.265G>T	c.(265-267)Gtt>Ttt	p.V89F	ZBBX_uc003feq.3_Missense_Mutation_p.V60F|ZBBX_uc003fep.3_Missense_Mutation_p.V89F	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	89						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ACCTTAACAACATTTCCTTTA	0.294												
FRYL	285527	broad.mit.edu	37	4	48559529	48559529	+	Missense_Mutation	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:48559529A>C	uc003gyh.1	-	33	4671	c.4066T>G	c.(4066-4068)Tgg>Ggg	p.W1356G	FRYL_uc003gyk.3_Missense_Mutation_p.W1356G|FRYL_uc003gyg.1_Missense_Mutation_p.W52G|FRYL_uc003gyi.1_Missense_Mutation_p.W245G	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1356					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.W1356G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGAGATCCCCATCCTTCTCCC	0.423												
CWH43	80157	broad.mit.edu	37	4	49040170	49040170	+	Silent	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:49040170A>C	uc003gyv.3	+	12	1958	c.1776A>C	c.(1774-1776)ctA>ctC	p.L592L	CWH43_uc011bzl.2_Silent_p.L565L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	592					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGATTATCTACAGCTCACTG	0.323												
CSN2	1447	broad.mit.edu	37	4	70823249	70823249	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:70823249G>T	uc003hes.4	-	4	431	c.418C>A	c.(418-420)Cat>Aat	p.H140N	CSN2_uc003het.4_Missense_Mutation_p.H139N	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	140				H -> Q (in Ref. 3; CAA34916).	calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AGAGGAAGATGCAGATTTTCA	0.507												
WDFY3	23001	broad.mit.edu	37	4	85719250	85719250	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:85719250C>T	uc003hpd.3	-	17	3242	c.2834G>A	c.(2833-2835)cGt>cAt	p.R945H		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	945						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R945H(2)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTTGCCAAACGTAAAAACTC	0.313												
ADAM29	11086	broad.mit.edu	37	4	175898963	175898963	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:175898963G>C	uc003iuc.3	+	4	2957	c.2287G>C	c.(2287-2289)Gtg>Ctg	p.V763L	ADAM29_uc003iud.3_Missense_Mutation_p.V763L|ADAM29_uc010irr.3_Missense_Mutation_p.V763L|ADAM29_uc011cki.2_Missense_Mutation_p.V763L|ADAM29_uc021xuo.1_Missense_Mutation_p.V763L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	763	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V763M(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCAACCTCCTGTGACACCCTC	0.567												
PIK3R1	5295	broad.mit.edu	37	5	67591246	67591246	+	Splice_Site	SNP	A	A	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:67591246A>G	uc003jva.3	+	14	2326	c.1746_splice	c.e14-2	p.M582_splice	PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	582					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(10)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACTGTTTTTCAGGTGGTTGAC	0.363			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
SLCO6A1	133482	broad.mit.edu	37	5	101709074	101709074	+	Silent	SNP	T	T	C	rs146381310	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:101709074T>C	uc003knn.3	-	12	2314	c.2142A>G	c.(2140-2142)aaA>aaG	p.K714K	SLCO6A1_uc003kno.3_Silent_p.K461K|SLCO6A1_uc003knp.3_Silent_p.K714K|SLCO6A1_uc003knq.3_Silent_p.K652K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	714						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CAGTTTCTTCTTTTTTCTTAA	0.274												
PCDHAC2	56138	broad.mit.edu	37	5	140249928	140249928	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140249928C>A	uc003lia.2	+	0	2098	c.1240C>A	c.(1240-1242)Cgc>Agc	p.R414S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R414S	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGACCGCGAGAACGT	0.627												
PCDHAC2	56138	broad.mit.edu	37	5	140250294	140250294	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140250294G>A	uc003lia.2	+	0	2464	c.1606G>A	c.(1606-1608)Gcg>Acg	p.A536T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.A536T	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTGAGCGCGCGCGATGC	0.672												
PCDHB7	56129	broad.mit.edu	37	5	140553185	140553185	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140553185G>A	uc003lit.3	+	0	943	c.769G>A	c.(769-771)Gtt>Att	p.V257I		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	257	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATAGCCCCGTTGGTTCCAT	0.502												
PCDHB14	56122	broad.mit.edu	37	5	140605446	140605446	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140605446G>A	uc003ljb.3	+	0	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R790*(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTTTCGAAATAGCTTT	0.348												
BTBD9	114781	broad.mit.edu	37	6	38256068	38256068	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:38256068C>T	uc003ooa.4	-	8	2010	c.1434G>A	c.(1432-1434)ccG>ccA	p.P478P	BTBD9_uc010jwv.3_Silent_p.P448P|BTBD9_uc003ony.4_Silent_p.P410P|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.P478P	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	478					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CAATCATGTACGGTTGTGCCA	0.398												
PKHD1	5314	broad.mit.edu	37	6	51524416	51524416	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:51524416A>G	uc003pah.1	-	60	10784	c.10508T>C	c.(10507-10509)cTc>cCc	p.L3503P		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3503					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGGCTCTGGAGCTCATGGTA	0.438												
DOPEY1	23033	broad.mit.edu	37	6	83847935	83847935	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:83847935T>C	uc011dyy.2	+	20	4407	c.4147T>C	c.(4147-4149)Ttg>Ctg	p.L1383L	DOPEY1_uc003pjs.1_Silent_p.L1392L|DOPEY1_uc010kbl.1_Silent_p.L1383L|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1392					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAAAGCCATCTTGAAAACTAA	0.383												
IKZF1	10320	broad.mit.edu	37	7	50468241	50468241	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:50468241C>A	uc003tow.4	+	7	1631	c.1476C>A	c.(1474-1476)tgC>tgA	p.C492*	IKZF1_uc022acq.1_Nonsense_Mutation_p.C349*|IKZF1_uc003tpa.4_Nonsense_Mutation_p.C257*|IKZF1_uc022acr.1_Nonsense_Mutation_p.C267*|IKZF1_uc022acs.1_Nonsense_Mutation_p.C222*|IKZF1_uc022act.1_Nonsense_Mutation_p.C395*|IKZF1_uc022acu.1_Nonsense_Mutation_p.C405*|IKZF1_uc003tox.4_Nonsense_Mutation_p.C450*|IKZF1_uc022acv.1_Nonsense_Mutation_p.C353*|IKZF1_uc022acw.1_Nonsense_Mutation_p.C363*|IKZF1_uc022acx.1_Nonsense_Mutation_p.C405*|IKZF1_uc022acy.1_Nonsense_Mutation_p.C299*|IKZF1_uc022acz.1_Nonsense_Mutation_p.C309*|IKZF1_uc011kck.2_Nonsense_Mutation_p.C405*|IKZF1_uc003toy.4_Nonsense_Mutation_p.C450*|IKZF1_uc003toz.4_Nonsense_Mutation_p.C462*|IKZF1_uc010kyx.3_Nonsense_Mutation_p.C232*	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	492					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CTTTTGAGTGCAACATGTGCG	0.592			"""D,T"""	BCL6	"""ALL, DLBCL"""							
BAIAP2L1	55971	broad.mit.edu	37	7	97944874	97944874	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:97944874T>C	uc003upj.3	-	6	800	c.537A>G	c.(535-537)gcA>gcG	p.A179A		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	179	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TGCAACCATCTGCAATGAATT	0.358												
CLDN15	24146	broad.mit.edu	37	7	100877603	100877603	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:100877603T>C	uc003uyg.2	-	1	703	c.338A>G	c.(337-339)aAa>aGa	p.K113R	CLDN15_uc003uyh.2_Missense_Mutation_p.K113R|CLDN15_uc003uyi.3_3'UTR|CLDN15_uc022aja.1_3'UTR	NM_014343	NP_001172009	P56746	CLD15_HUMAN	Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.	113					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CAGCTTGGCTTTCCTGGAGAG	0.662												
GRM8	2918	broad.mit.edu	37	7	126409978	126409978	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:126409978C>T	uc003vlr.2	-	5	1609	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R433Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R154Q	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	433					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGTACTCATTCGTGGACAAAG	0.403										HNSCC(24;0.065)		
STC1	6781	broad.mit.edu	37	8	23702306	23702306	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:23702306G>A	uc003xdw.1	-	3	1005	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	241					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.R241H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGGGATGTGCGTTTGATGTGG	0.507												
EBF2	64641	broad.mit.edu	37	8	25718727	25718727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:25718727G>A	uc003xes.2	-	12	1445	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	394					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCTGCGGCTCGCTTCAAAATG	0.488												
LYN	4067	broad.mit.edu	37	8	56866431	56866431	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:56866431T>C	uc003xsk.4	+	7	960	c.678T>C	c.(676-678)tgT>tgC	p.C226C	LYN_uc003xsl.4_Silent_p.C205C	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	226	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AGAAGGCTTGTATTAGTCCCA	0.478												
PRDM14	63978	broad.mit.edu	37	8	70980585	70980585	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:70980585T>C	uc003xym.3	-	3	994	c.792A>G	c.(790-792)ccA>ccG	p.P264P		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	264	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CACCAAAATGTGGGACTTCAC	0.488												
PABPC1	26986	broad.mit.edu	37	8	101730507	101730507	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:101730507C>T	uc003yjs.1	-	2	698	c.194_splice	c.e2-1	p.A65_splice	PABPC1_uc011lhc.1_Splice_Site_p.A65_splice|PABPC1_uc011lhd.1_Splice_Site_p.A20_splice|PABPC1_uc003yjt.1_Splice_Site_p.A65_splice|PABPC1_uc003yju.2_Splice_Site	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	65	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAGCACGCTCCGCTGCAGGAA	0.433												
RIMS2	9699	broad.mit.edu	37	8	104778688	104778688	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:104778688T>C	uc003ylp.3	+	2	760	c.621T>C	c.(619-621)caT>caC	p.H207H		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	238					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTCGATCTCATGGGCTCACAA	0.443										HNSCC(12;0.0054)		
FREM1	158326	broad.mit.edu	37	9	14775892	14775892	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:14775892C>T	uc003zlm.3	-	25	5568	c.4752G>A	c.(4750-4752)ggG>ggA	p.G1584G	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Silent_p.G120G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1584					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGGGAGTCCCCTCCTGAGT	0.512												
RRAGA	10670	broad.mit.edu	37	9	19050342	19050342	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:19050342G>A	uc003znj.3	+	0	971	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_006570	NP_006561	Q7L523	RRAGA_HUMAN	Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.	229				E -> G (in Ref. 2; AAB63255).	apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CCACCGGTTTGAGAAGATCAG	0.473												
TAF1L	138474	broad.mit.edu	37	9	32632340	32632340	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:32632340G>A	uc003zrg.1	-	0	3328	c.3238C>T	c.(3238-3240)Cgt>Tgt	p.R1080C	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1080					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1080S(2)|p.R1080H(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTTGTAACGCTCTTGATGC	0.473												
FGD3	89846	broad.mit.edu	37	9	95738835	95738835	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:95738835C>T	uc004asz.2	+	2	825	c.297C>T	c.(295-297)ggC>ggT	p.G99G	FGD3_uc004asw.2_Silent_p.G99G|FGD3_uc004asx.2_Silent_p.G99G	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	99					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGGAGGCTGGCCCAAGCCCCA	0.657												
ASTN2	23245	broad.mit.edu	37	9	119488220	119488220	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:119488220T>C	uc004bjt.2	-	14	2584	c.2483A>G	c.(2482-2484)aAt>aGt	p.N828S	ASTN2_uc022bml.1_Missense_Mutation_p.N524S|ASTN2_uc022bmm.1_Missense_Mutation_p.N528S	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	879						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTTGAGAACATTAGTGAAGCC	0.542												
FCN2	2220	broad.mit.edu	37	9	137777089	137777089	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:137777089G>A	uc004cfg.1	+	4	316	c.306G>A	c.(304-306)ccG>ccA	p.P102P	FCN2_uc004cfh.1_Silent_p.P64P	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	102	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TCCCAGGCCCGCGTACCTGCA	0.662												
PIM2	11040	broad.mit.edu	37	X	48771532	48771532	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:48771532G>A	uc004dls.3	-	5	1114	c.812C>T	c.(811-813)cCt>cTt	p.P271L	SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	271	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						TCGGGAAGAAGGTTTGGGGGC	0.602												
ATP7A	538	broad.mit.edu	37	X	77243835	77243835	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:77243835C>A	uc004ecx.4	+	2	378	c.218C>A	c.(217-219)gCt>gAt	p.A73D	ATP7A_uc004ecw.2_Missense_Mutation_p.A73D	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	73	HMA 1.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GGCTTTGATGCTGTTATCCAT	0.423												
STAG2	10735	broad.mit.edu	37	X	123220476	123220476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:123220476C>T	uc004eua.3	+	29	3537	c.3133C>T	c.(3133-3135)Cga>Tga	p.R1045*	STAG2_uc004etz.4_Nonsense_Mutation_p.R1045*|STAG2_uc004eub.3_Nonsense_Mutation_p.R1045*|STAG2_uc004euc.3_Nonsense_Mutation_p.R1045*|STAG2_uc004eud.3_Nonsense_Mutation_p.R1045*|STAG2_uc004eue.3_Nonsense_Mutation_p.R1045*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	1045					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.R1045*(2)		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						GATGTCTTACCGAAATTCTTT	0.433												
L1CAM	3897	broad.mit.edu	37	X	153129351	153129351	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:153129351G>A	uc004fjb.3	-	24	3552	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G	L1CAM_uc004fjc.3_Silent_p.G1148G|L1CAM_uc010nuo.3_Silent_p.G1143G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1148					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTATTTGCCGCCCTTGCTGC	0.627												
TSPY3	728137	broad.mit.edu	37	Y	9366667	9366672	+	In_Frame_Del	DEL	GAAGAT	GAAGAT	-			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrY:9366667_9366672delGAAGAT	uc004fse.3	+	2	809_814	c.526_531delGAAGAT	c.(526-531)gaagatdel	p.ED178del	TSPY3_uc004fsf.3_In_Frame_Del_p.ED178del	NM_001077697	NP_001071165	Q01534	TSPY1_HUMAN	Homo sapiens testis specific protein, Y-linked 3 (TSPY3), mRNA.	178					cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding										GATCACTGACGAAGATGAAGACATGC	0.515												
