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
MACF1	23499	broad.mit.edu	37	1	39750772	39750772	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:39750772C>T	uc021olt.1	+	10	1216	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	MACF1_uc021ols.1_Silent_p.G388G|MACF1_uc001cdc.2_Silent_p.G388G|MACF1_uc001cda.1_Silent_p.G296G	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	388					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGAATTTGGCCGAATTAAAC	0.433												
ANKRD34A	284615	broad.mit.edu	37	1	145473561	145473561	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:145473561G>A	uc021ouy.1	+	0	233	c.233G>A	c.(232-234)cGc>cAc	p.R78H	ANKRD34A_uc001enq.1_Missense_Mutation_p.R78H	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	78										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGATTAGGGCGCACGGCGCTC	0.706												
MTMR11	10903	broad.mit.edu	37	1	149901667	149901667	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:149901667T>C	uc001etl.4	-	15	2040	c.1789A>G	c.(1789-1791)Atc>Gtc	p.I597V	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.I525V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	597	Myotubularin phosphatase.						phosphatase activity	p.L597delL(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCAGAGGAGATAGCAGGTCGA	0.597												
LYST	1130	broad.mit.edu	37	1	235993676	235993676	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:235993676G>A	uc001hxj.2	-	2	217	c.42C>T	c.(40-42)acC>acT	p.T14T	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.T14T|LYST_uc001hxm.3_Non-coding_Transcript|LYST_uc001hxn.1_Silent_p.T14T	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	14					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGTTGACATCGGTCAGAAATT	0.458												
OR2AK2	391191	broad.mit.edu	37	1	248128698	248128698	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:248128698G>A	uc010pzd.2	+	0	65	c.65G>A	c.(64-66)aGt>aAt	p.S22N	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S22R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGAAATCAAAGTTTTGGGACA	0.363												
OR2T33	391195	broad.mit.edu	37	1	248436720	248436720	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:248436720G>A	uc010pzi.2	-	0	397	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGCTCATGAGAGTGGGATAT	0.592												
ARHGAP21	57584	broad.mit.edu	37	10	24874106	24874106	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:24874106G>A	uc001isb.2	-	25	5599	c.5112C>T	c.(5110-5112)tcC>tcT	p.S1704S	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1703	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATTTTTTCCTGGAAAGAGTAT	0.393												
CUL2	8453	broad.mit.edu	37	10	35299303	35299303	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:35299303A>T	uc010qer.2	-	20	2335	c.2231T>A	c.(2230-2232)cTg>cAg	p.L744Q	CUL2_uc021ppa.1_Missense_Mutation_p.L738Q|CUL2_uc009xma.3_Missense_Mutation_p.L594Q|CUL2_uc001ixv.3_Missense_Mutation_p.L725Q|CUL2_uc001ixw.3_Missense_Mutation_p.L725Q	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	725					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTTGTCTATCAGAACTTCAAT	0.463												
ZNF37A	7587	broad.mit.edu	37	10	38404217	38404217	+	Silent	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:38404217G>T	uc001izk.3	+	7	1068	c.238_splice	c.e7+1	p.E80_splice	ZNF37A_uc001izl.3_Splice_Site_p.E80_splice|ZNF37A_uc001izm.3_Splice_Site_p.E80_splice	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	80						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AGAGTCATCTGGGTGAGTTAG	0.393												
LRRC18	474354	broad.mit.edu	37	10	50121795	50121795	+	Missense_Mutation	SNP	C	C	T	rs138127999		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:50121795C>T	uc001jhd.3	-	0	486	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.V136M	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	136						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTGGTGGGCACGCTGTCCAGG	0.602												
CHAT	1103	broad.mit.edu	37	10	50870733	50870733	+	Missense_Mutation	SNP	C	C	T	rs116097791	by1000genomes	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:50870733C>T	uc001jhz.2	+	13	2035	c.1882C>T	c.(1882-1884)Cgg>Tgg	p.R628W	CHAT_uc001jhv.1_Missense_Mutation_p.R510W|CHAT_uc001jhx.1_Missense_Mutation_p.R510W|CHAT_uc001jhy.1_Missense_Mutation_p.R510W|CHAT_uc001jia.2_Missense_Mutation_p.R546W|CHAT_uc010qgs.1_Missense_Mutation_p.R510W	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	628					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.L627V(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCTGGCACTGCGGGAGCTGGC	0.572												
PTEN	5728	broad.mit.edu	37	10	89692829	89692829	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:89692829T>C	uc001kfb.3	+	4	1345	c.313T>C	c.(313-315)Tgt>Cgt	p.C105R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		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.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105W(4)|p.C105fs*2(3)|p.C105S(3)|p.Y27fs*1(2)|p.C105G(2)|p.C105Y(2)|p.C105R(2)|p.Y27_N212>Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(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)		CAAACCCTTTTGTGAAGATCT	0.378		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)		
OR5T3	390154	broad.mit.edu	37	11	56020589	56020589	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr11:56020589C>T	uc010rjd.2	+	0	914	c.914C>T	c.(913-915)tCa>tTa	p.S305L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCATAGTGTCAATATTTTAC	0.368												
ANO2	57101	broad.mit.edu	37	12	5724431	5724431	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:5724431G>A	uc001qnm.2	-	17	1921	c.1849C>T	c.(1849-1851)Cgc>Tgc	p.R617C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	622						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGATCAGGCGCTCTTCAAAA	0.458												
LRRK2	120892	broad.mit.edu	37	12	40689281	40689281	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:40689281G>A	uc001rmg.4	+	22	3052	c.2931G>A	c.(2929-2931)ctG>ctA	p.L977L	LRRK2_uc001rmh.1_Silent_p.L599L|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	977					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTCTTCTCTGGCTTCTGAGA	0.343												
LRRIQ1	84125	broad.mit.edu	37	12	85460676	85460676	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:85460676G>T	uc001tac.3	+	10	2806	c.2695_splice	c.e10+1	p.G899_splice	LRRIQ1_uc021rbo.1_Splice_Site_p.G777_splice	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	899										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TACTCGAATTGGTAAGAACAA	0.274												
CHD8	57680	broad.mit.edu	37	14	21860669	21860673	+	Frame_Shift_Del	DEL	TTTGA	TTTGA	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:21860669_21860673delTTTGA	uc001war.2	-	32	6829_6833	c.6764_6768delTCAAA	c.(6763-6768)atcaaafs	p.I2255fs	CHD8_uc001was.2_Frame_Shift_Del_p.I1976fs|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2255					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGCTTACATCTTTGATTTGAACTGT	0.468												
MYH6	4624	broad.mit.edu	37	14	23869930	23869930	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:23869930G>A	uc001wjv.3	-	12	1469	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	MYH6_uc010akp.2_Silent_p.F466F	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	466	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGAAGATCTCGAAGCCAGCGA	0.552												
DICER1	23405	broad.mit.edu	37	14	95569923	95569923	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:95569923C>T	uc001ydw.2	-	21	4022	c.3810G>A	c.(3808-3810)gtG>gtA	p.V1270V	DICER1_uc010avh.1_Silent_p.V168V|DICER1_uc021sbc.1_Silent_p.V1270V|DICER1_uc001ydv.2_Silent_p.V1260V|DICER1_uc001ydx.2_Silent_p.V1270V|DICER1_uc001ydy.1_Silent_p.V122V|DICER1_uc021sbd.1_Silent_p.V552V	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1270					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCCCTTGAGCACTTGAATAG	0.468			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome			
OR4N3P	390539	broad.mit.edu	37	15	22413748	22413748	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr15:22413748G>A	uc001yuf.3	+	0	287	c.47G>A	c.(46-48)gGc>gAc	p.G16D	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TCCTACAGAGGCTGCATCACT	0.517												
RYR3	6263	broad.mit.edu	37	15	33895352	33895352	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr15:33895352G>A	uc001zhi.3	+	17	2021	c.1951G>A	c.(1951-1953)Gcg>Acg	p.A651T	RYR3_uc010bar.3_Missense_Mutation_p.A651T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	651	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGGGAGTCGCGGAGGGCTC	0.527												
MFAP1	4236	broad.mit.edu	37	15	44105497	44105497	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr15:44105497C>G	uc001zth.1	-	4	860	c.676G>C	c.(676-678)Gag>Cag	p.E226Q		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	226						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCTTCCTGCTCCAGCTCCTTC	0.483												
STUB1	10273	broad.mit.edu	37	16	731823	731823	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:731823G>T	uc002cit.3	+	3	966	c.555G>T	c.(553-555)gaG>gaT	p.E185D	STUB1_uc002ciu.3_Missense_Mutation_p.E113D|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	Homo sapiens STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1), mRNA.	185					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				GAAACCACGAGGGTGATGAGG	0.637												
SEC14L5	9717	broad.mit.edu	37	16	5053502	5053502	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:5053502C>A	uc002cye.2	+	10	1410	c.1230C>A	c.(1228-1230)gaC>gaA	p.D410E		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	410	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGGTTGAGGACAATTACCCAG	0.647												
SMG1	23049	broad.mit.edu	37	16	18875017	18875018	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:18875017_18875018delGT	uc002dfm.3	-	24	4012_4013	c.3649_3650delAC	c.(3649-3651)accfs	p.T1217fs	SMG1_uc010bwb.3_Frame_Shift_Del_p.T1077fs	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	1217	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGCTACTGGTACTCTTTTTC	0.366												
IL4R	3566	broad.mit.edu	37	16	27363906	27363906	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:27363906G>A	uc002don.3	+	6	801	c.559G>A	c.(559-561)Gca>Aca	p.A187T	IL4R_uc002dom.3_Missense_Mutation_p.A187T|IL4R_uc002dop.4_Missense_Mutation_p.A172T|IL4R_uc010bxy.3_Missense_Mutation_p.A187T|IL4R_uc002doo.3_Missense_Mutation_p.A27T	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	187	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTCCGCATCGCAGCCAGCAC	0.592												
MT1E	4493	broad.mit.edu	37	16	56660826	56660826	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:56660826G>A	uc002ejm.3	+	1					MT1A_uc002eji.3_Intron|MT1M_uc010vhe.2_Intron|MT1E_uc002ejl.3_Silent_p.K43K			P04732	MT1E_HUMAN	Homo sapiens metallothionein 1E (MT1E), mRNA.							cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										GCTGTGCCAAGTGTGCCCAGG	0.597												
SETD6	79918	broad.mit.edu	37	16	58552049	58552049	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:58552049T>C	uc002ens.3	+	5	946	c.887T>C	c.(886-888)aTg>aCg	p.M296T	SETD6_uc021tjh.1_3'UTR|SETD6_uc002enr.3_Missense_Mutation_p.M272T|SETD6_uc010cdm.3_Non-coding_Transcript	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	Homo sapiens SET domain containing 6 (SETD6), transcript variant 1, mRNA.	296					negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CTGATTCATATGTACGGTTTT	0.448												
ATP6V0D1	9114	broad.mit.edu	37	16	67477049	67477049	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:67477049C>T	uc010vjo.1	-	4	737	c.637G>A	c.(637-639)Gac>Aac	p.D213N	ATP6V0D1_uc002ete.1_Missense_Mutation_p.D172N|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.D95N	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	172					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TCGTCAAGGTCCTGCTCTGAA	0.562												
CDH1	999	broad.mit.edu	37	16	68855965	68855965	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:68855965C>T	uc002ewg.1	+	11	1897	c.1773C>T	c.(1771-1773)aaC>aaT	p.N591N	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Silent_p.N530N	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	591	Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGAATGACAACGCCCCCATAC	0.458			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer			
DNAH2	146754	broad.mit.edu	37	17	7663139	7663139	+	Missense_Mutation	SNP	G	G	A	rs112194246		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:7663139G>A	uc002giu.1	+	15	2682	c.2668G>A	c.(2668-2670)Gca>Aca	p.A890T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	890	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAGACTTTGGCAGGTGTGGT	0.522												
ZNF624	57547	broad.mit.edu	37	17	16526500	16526500	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:16526500C>T	uc010cpi.2	-	5	1792	c.1700G>A	c.(1699-1701)cGt>cAt	p.R567H	ZNF624_uc021tre.1_Missense_Mutation_p.R441H	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGAAGAAGAACGCATGAAGGC	0.368												
RAD51C	5889	broad.mit.edu	37	17	56772380	56772380	+	Silent	SNP	A	A	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:56772380A>G	uc002iwu.3	+	1	276	c.234A>G	c.(232-234)acA>acG	p.T78T	TEX14_uc010dcz.2_5'Flank|TEX14_uc002iwr.2_5'Flank|TEX14_uc002iws.2_5'Flank|TEX14_uc010dda.2_5'Flank|RAD51C_uc002iwt.1_Silent_p.T78T|RAD51C_uc010woa.1_Silent_p.T78T|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript|RAD51C_uc010wob.1_Non-coding_Transcript	NM_058216	NP_478123	O43502	RA51C_HUMAN	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.	78					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGCTGGTACATCTGAGTCAC	0.398								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2			
ACE	1636	broad.mit.edu	37	17	61554654	61554654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:61554654delG	uc002jau.2	+	0	233	c.199delG	c.(199-201)gccfs	p.A67fs	ACE_uc010wph.2_Frame_Shift_Del_p.A67fs|ACE_uc010wpi.2_Frame_Shift_Del_p.A67fs|ACE_uc010ddu.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	67	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGCGTGGCCGCCAGCTGGGC	0.726												
CTDP1	9150	broad.mit.edu	37	18	77457977	77457977	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr18:77457977A>G	uc002lnh.2	+	3	757	c.610A>G	c.(610-612)Atg>Gtg	p.M204V	CTDP1_uc002lni.2_Missense_Mutation_p.M204V|CTDP1_uc010drd.2_Missense_Mutation_p.M204V|CTDP1_uc021ult.1_Missense_Mutation_p.M85V	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	204	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTGTCAGCAGATGTCGAATAA	0.493												
ATP8B3	148229	broad.mit.edu	37	19	1792112	1792112	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:1792112C>T	uc002ltw.3	-	18	2312	c.2078G>A	c.(2077-2079)cGg>cAg	p.R693Q	ATP8B3_uc002ltv.3_Missense_Mutation_p.R646Q|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	693					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAGTGTCCGCAGGGTCTC	0.677												
ADAMTS10	81794	broad.mit.edu	37	19	8668748	8668748	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:8668748G>A	uc002mkj.1	-	4	730	c.456C>T	c.(454-456)gaC>gaT	p.D152D	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	152					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACTCTTCCTCGTCTGCCACGA	0.572												
MUC16	94025	broad.mit.edu	37	19	9058871	9058871	+	Silent	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:9058871G>T	uc002mkp.3	-	2	28779	c.28575C>A	c.(28573-28575)acC>acA	p.T9525T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9527	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						TAGCACTGGTGGTTTCCACAT	0.478												
IL12RB1	3594	broad.mit.edu	37	19	18184347	18184347	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:18184347G>A	uc002nhx.1	-	8	934	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	IL12RB1_uc002nhw.1_Missense_Mutation_p.R255W|IL12RB1_uc010xqb.1_Missense_Mutation_p.R255W|IL12RB1_uc002nhy.3_Missense_Mutation_p.R255W	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	255	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AGGGTCAGCCGCCTCCTCCCA	0.602												
ZNF257	113835	broad.mit.edu	37	19	22271312	22271312	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:22271312G>A	uc010ecx.3	+	3	929	c.760G>A	c.(760-762)Gag>Aag	p.E254K	ZNF257_uc010ecy.3_Missense_Mutation_p.E222K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCATACTAGAGAGAAACCCTA	0.388												
MEIS3	56917	broad.mit.edu	37	19	47920129	47920129	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:47920129T>C	uc002pgq.3	-	2	586	c.520A>G	c.(520-522)Aca>Gca	p.T174A	MEIS3_uc002pgp.3_5'Flank|MEIS3_uc002pgr.3_5'UTR|MEIS3_uc002pgs.3_Missense_Mutation_p.T93A|MEIS3_uc002pgt.3_Missense_Mutation_p.T93A|MEIS3_uc010eld.3_Missense_Mutation_p.T93A|MEIS3_uc002pgw.3_3'UTR	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	93						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCAGGGGGTGTCCCCAGCCCA	0.632												
KLK6	5653	broad.mit.edu	37	19	51462468	51462468	+	Silent	SNP	G	G	A	rs148571626		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:51462468G>A	uc002puh.3	-	4	779	c.714C>T	c.(712-714)aaC>aaT	p.N238N	KLK6_uc010eoj.3_Missense_Mutation_p.T101M|KLK6_uc002pui.3_Silent_p.N229N|KLK6_uc002puj.3_Silent_p.N122N|KLK6_uc010ycn.2_Silent_p.N122N|KLK6_uc002pul.3_Silent_p.N229N|KLK6_uc002pum.3_Silent_p.N122N	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	229	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATCTGCAGACGTTGGTGTAGA	0.547												
NLRP13	126204	broad.mit.edu	37	19	56423179	56423179	+	Silent	SNP	G	G	A	rs140606375	byFrequency	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:56423179G>A	uc010ygg.2	-	4	2029	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	668							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGAGTTCTTCGTCCTCCAAAA	0.408												
ZNF543	125919	broad.mit.edu	37	19	57840542	57840542	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:57840542C>T	uc002qoi.2	+	3	2069	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGGAAGACCTTTTATGACT	0.418												
TPO	7173	broad.mit.edu	37	2	1544411	1544411	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:1544411C>T	uc002qwr.3	+	15	2750	c.2664C>T	c.(2662-2664)ggC>ggT	p.G888G	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.G888G|TPO_uc002qwx.3_Silent_p.G831G|TPO_uc002qwu.3_Silent_p.G831G|TPO_uc010yio.2_Silent_p.G715G|TPO_uc010yip.2_Silent_p.G844G|TPO_uc002qwy.1_Silent_p.G184G|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	888					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.G888G(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGAGACAGGCGGAGGAACTC	0.642												
ALLC	55821	broad.mit.edu	37	2	3730599	3730599	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:3730599G>A	uc010ewt.3	+	6	607	c.446G>A	c.(445-447)gGc>gAc	p.G149D		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	168							allantoicase activity	p.S148S(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CCTGCTTCCGGCCACAACTAT	0.438										HNSCC(21;0.051)		
APOB	338	broad.mit.edu	37	2	21256280	21256280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:21256280C>A	uc002red.3	-	8	1143	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	339	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATTTTGCTCAGAGATGGTT	0.468												
C2orf71	388939	broad.mit.edu	37	2	29294478	29294478	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:29294478C>T	uc002rmt.2	-	0	2650	c.2650G>A	c.(2650-2652)Gcc>Acc	p.A884T		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	884					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCACAGAGGCCCTCAGCTTT	0.657												
FUNDC2P2	388965	broad.mit.edu	37	2	84518284	84518284	+	Silent	SNP	T	T	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:84518284T>A	uc010ffz.1	+	0	479	c.342T>A	c.(340-342)acT>acA	p.T114T						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		CTAAGAGCACTCAGATACCTA	0.463												
AMMECR1L	83607	broad.mit.edu	37	2	128631538	128631538	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:128631538G>A	uc002tpl.3	-	2	522	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	AMMECR1L_uc002tpm.3_Missense_Mutation_p.R91W	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	91										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CCATTAGGCCGGGGAAGAGGG	0.547												
TTN	7273	broad.mit.edu	37	2	179457195	179457195	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:179457195T>G	uc021vsy.1	-	249	52058	c.51833A>C	c.(51832-51834)aAt>aCt	p.N17278T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N10973T|TTN_uc021vta.1_Missense_Mutation_p.N10906T|TTN_uc021vtb.1_Missense_Mutation_p.N10781T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18205	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGCAGCATTACGAATTTC	0.378												
TTN	7273	broad.mit.edu	37	2	179476881	179476881	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:179476881C>T	uc021vsy.1	-	215	42778	c.42553G>A	c.(42553-42555)Gga>Aga	p.G14185R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G7880R|TTN_uc021vta.1_Missense_Mutation_p.G7813R|TTN_uc021vtb.1_Missense_Mutation_p.G7688R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15112	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V14184_T14185delVT(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)			TAGGGTGGTCCAGGAGTGGCT	0.428												
DNAH7	56171	broad.mit.edu	37	2	196681639	196681639	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:196681639C>T	uc002utj.4	-	50	9575	c.9474G>A	c.(9472-9474)tcG>tcA	p.S3158S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3158	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S3158L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATTGCCTTCCGAAGATGAAA	0.323												
JPH2	57158	broad.mit.edu	37	20	42788505	42788505	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr20:42788505G>A	uc002xli.1	-	1	1795	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	308					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCACTGGAGCGTTCGCTCACG	0.672												
COL6A2	1292	broad.mit.edu	37	21	47545189	47545189	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr21:47545189G>A	uc002zia.1	+	23	1862	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I	COL6A2_uc002zhz.1_Missense_Mutation_p.V594I|COL6A2_uc002zhy.1_Missense_Mutation_p.V594I	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	594	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGTGTGACGTCATGACCTA	0.687												
CABIN1	23523	broad.mit.edu	37	22	24561503	24561503	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr22:24561503A>G	uc002zzi.1	+	30	5043	c.4916A>G	c.(4915-4917)tAt>tGt	p.Y1639C	CABIN1_uc021wnc.1_Missense_Mutation_p.Y1589C|CABIN1_uc002zzj.1_Missense_Mutation_p.Y1560C|CABIN1_uc002zzl.2_Missense_Mutation_p.Y1639C|CABIN1_uc002zzm.1_Missense_Mutation_p.Y64C	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1639					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGCAGGAAGTATCTGCGAGAT	0.612												
DNAJB7	150353	broad.mit.edu	37	22	41257115	41257115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr22:41257115delT	uc003azj.3	-	0	1016	c.884delA	c.(883-885)aagfs	p.K295fs	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_Intron|XPNPEP3_uc003azg.2_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	295	Poly-Lys.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTACGCTTCTTTTTTTTCCT	0.378												
CHDH	55349	broad.mit.edu	37	3	53856599	53856599	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr3:53856599G>A	uc003dgz.3	-	3	1215	c.774C>T	c.(772-774)gcC>gcT	p.A258A		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	258					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CAAGCGTCTCGGCCTCGGCCT	0.632												
SDHAP1	255812	broad.mit.edu	37	3	195692311	195692311	+	Missense_Mutation	SNP	T	T	C	rs62282793	by1000genomes	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr3:195692311T>C	uc003fvy.3	-	2	346	c.232A>G	c.(232-234)Agc>Ggc	p.S78G	SDHAP1_uc003fvx.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		TTCCCAGTGCTGACGTCCACA	0.607												
SULT1B1	27284	broad.mit.edu	37	4	70615520	70615520	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:70615520C>G	uc003hen.3	-	3	592	c.294G>C	c.(292-294)gaG>gaC	p.E98D		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	98					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ATGGATTCTTCTCCAATTGTT	0.383												
PRKG2	5593	broad.mit.edu	37	4	82074799	82074799	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:82074799T>C	uc003hmh.2	-	6	1003	c.990_splice	c.e6+1	p.K330_splice	PRKG2_uc011ccf.1_Splice_Site|PRKG2_uc011ccg.1_Splice_Site|PRKG2_uc011cch.1_Splice_Site_p.K330_splice	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	330					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AATAGTTACCTTTCCTTTTGC	0.333												
MMRN1	22915	broad.mit.edu	37	4	90874400	90874400	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:90874400A>G	uc003hst.3	+	7	3589	c.3518A>G	c.(3517-3519)gAg>gGg	p.E1173G	MMRN1_uc010iku.3_Missense_Mutation_p.E476G|MMRN1_uc011cds.2_Missense_Mutation_p.E915G	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1173	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTGCATTTGAGTCTGAAAAT	0.368												
ZFP42	132625	broad.mit.edu	37	4	188924074	188924074	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:188924074C>T	uc003izh.1	+	3	521	c.113C>T	c.(112-114)gCg>gTg	p.A38V	ZFP42_uc003izi.1_Missense_Mutation_p.A38V|ZFP42_uc021xvm.1_Missense_Mutation_p.A38V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	38					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GACCTGCAGGCGGAAATAGAA	0.572												
ZFP42	132625	broad.mit.edu	37	4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:188924640G>A	uc003izh.1	+	3	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_uc003izi.1_Missense_Mutation_p.V227I|ZFP42_uc021xvm.1_Missense_Mutation_p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	227					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502												
ANKRA2	57763	broad.mit.edu	37	5	72857050	72857050	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:72857050G>A	uc003kcu.2	-	2	1012	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN	Homo sapiens ankyrin repeat, family A (RFXANK-like), 2 (ANKRA2), mRNA.	118						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CTTTGTTGTAGAGGGGGTGTA	0.388												
PCDHAC2	56147	broad.mit.edu	37	5	140167547	140167547	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140167547G>A	uc003lhb.2	+	0	1672	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E558K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	572	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)			CGTGCTGGACGAGAACGACAA	0.672												
PCDHAC2	56140	broad.mit.edu	37	5	140221381	140221381	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140221381G>A	uc003lhs.2	+	0	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N	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_uc003lhr.1_Missense_Mutation_p.D159N	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	174	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCGTCCGATGCAGATGT	0.458												
PCDHGC5	8641	broad.mit.edu	37	5	140769126	140769126	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140769126C>T	uc003lkc.2	+	0	1675	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	563	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCGCCACGGGTGCTGTA	0.662												
SLC36A3	285641	broad.mit.edu	37	5	150672978	150672978	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:150672978G>A	uc003ltx.2	-	3	770	c.351C>T	c.(349-351)taC>taT	p.Y117Y	SLC36A3_uc003ltv.2_Silent_p.Y61Y|SLC36A3_uc003ltw.2_Silent_p.Y117Y	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	117						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCAAGGCCGTACATCGTGG	0.428												
ZNF193	7746	broad.mit.edu	37	6	28200919	28200919	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:28200919G>A	uc010jqz.2	+	4	1490	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	ZNF193_uc003nkr.2_Missense_Mutation_p.R383H|ZNF193_uc003nkq.2_Missense_Mutation_p.R383H	NM_001199479	NP_001186408	O15535	ZN193_HUMAN	Homo sapiens zinc finger protein 193 (ZNF193), transcript variant 1, mRNA.	383					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|lung(5)|prostate(1)	8						AACCTCATTCGCCATCAGAAG	0.502												
EEF1A1	1915	broad.mit.edu	37	6	74228304	74228304	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:74228304C>T	uc003phi.3	-	4	1794	c.802G>A	c.(802-804)Gag>Aag	p.E268K	EEF1A1_uc003phj.3_Missense_Mutation_p.E268K|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	268						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACACCAGTCTCCACTCGGCCA	0.418											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
GPRC6A	222545	broad.mit.edu	37	6	117150029	117150031	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:117150029_117150031delACA	uc003pxj.1	-	0	168_170	c.146_148delTGT	c.(145-150)ttgtcc>tcc	p.L49del	GPRC6A_uc003pxk.1_In_Frame_Del_p.L49del|GPRC6A_uc003pxl.1_In_Frame_Del_p.L49del	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	49					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTTCTGAGGACAACATTTTTTC	0.443												
HBS1L	10767	broad.mit.edu	37	6	135318720	135318720	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:135318720G>C	uc003qez.2	-	5	821	c.614C>G	c.(613-615)tCt>tGt	p.S205C	HBS1L_uc003qey.2_Missense_Mutation_p.S41C|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Missense_Mutation_p.S41C|HBS1L_uc011eda.1_Missense_Mutation_p.S163C	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.	205					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AACATCGGAAGAAGCAATGGC	0.443												
BCLAF1	9774	broad.mit.edu	37	6	136582520	136582520	+	Silent	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:136582520T>C	uc003qgx.1	-	11	2893	c.2640A>G	c.(2638-2640)aaA>aaG	p.K880K	BCLAF1_uc011edb.1_Silent_p.K159K|BCLAF1_uc003qgy.1_Silent_p.K829K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.K878K|BCLAF1_uc003qgw.1_Silent_p.K707K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	880					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCTACCTGATTTTTTGAAGT	0.428												
IFNGR1	3459	broad.mit.edu	37	6	137519737	137519737	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:137519737C>G	uc003qho.2	-	6	1004	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	IFNGR1_uc011edm.1_Missense_Mutation_p.E273Q	NM_000416	NP_000407	P15260	INGR1_HUMAN	Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	301					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TATTTTGATTCAGGTTTTGTC	0.393												
SYNE1	23345	broad.mit.edu	37	6	152831380	152831380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:152831380G>A	uc021zhb.1	-	5	752	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	SYNE1_uc003qot.4_Nonsense_Mutation_p.Q184*|SYNE1_uc003qou.4_Nonsense_Mutation_p.Q177*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q177*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.Q177*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	177	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATTTCCTTGGATCTTGGTG	0.453										HNSCC(10;0.0054)		
MAP3K4	4216	broad.mit.edu	37	6	161527602	161527602	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:161527602G>A	uc003qtn.3	+	19	4055	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	MAP3K4_uc010kkc.1_Missense_Mutation_p.E1301K|MAP3K4_uc003qto.3_Missense_Mutation_p.E1255K|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.E758K|MAP3K4_uc003qtp.3_Missense_Mutation_p.E241K|MAP3K4_uc003qtq.3_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1305					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCGATTGTTTGAAGAAAAGAG	0.408												
MAP3K4	4216	broad.mit.edu	37	6	161527656	161527656	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:161527656G>A	uc003qtn.3	+	19	4109	c.3967G>A	c.(3967-3969)Gat>Aat	p.D1323N	MAP3K4_uc010kkc.1_Missense_Mutation_p.D1319N|MAP3K4_uc003qto.3_Missense_Mutation_p.D1273N|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.D776N|MAP3K4_uc003qtp.3_Missense_Mutation_p.D259N|MAP3K4_uc003qtq.3_Missense_Mutation_p.D12N	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1323					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.T1323T(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCAAGTTTGTGATACGCCTAA	0.398												
ELMO1	9844	broad.mit.edu	37	7	37354483	37354483	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:37354483C>T	uc022abv.1	-	3	873	c.163G>A	c.(163-165)Gat>Aat	p.D55N	ELMO1_uc003tfk.2_Missense_Mutation_p.D55N|ELMO1_uc010kxg.2_Missense_Mutation_p.D55N	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	55					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTGAACTATCGGCATGCTGG	0.323												
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
TYW1B	441250	broad.mit.edu	37	7	72093896	72093896	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:72093896C>T	uc011kej.2	-	13	1749	c.1590G>A	c.(1588-1590)ggG>ggA	p.G530G	TYW1B_uc011keh.1_Silent_p.G368G|TYW1B_uc011kei.2_Silent_p.G157G	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	531					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AGTCAGGATTCCCCAGGGACA	0.537												
NCF1C	654817	broad.mit.edu	37	7	74573755	74573755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:74573755G>T	uc003ubv.3	-	8	889	c.750C>A	c.(748-750)taC>taA	p.Y250*						Homo sapiens neutrophil cytosolic factor 1C pseudogene (NCF1C), non-coding RNA.																		TGGACGGAAAGTAGCCTGTGA	0.652												
RABL5	64792	broad.mit.edu	37	7	100959711	100959711	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:100959711C>A	uc003uyl.3	-	3	422	c.319G>T	c.(319-321)Gtc>Ttc	p.V107F	RABL5_uc011kkk.2_Missense_Mutation_p.V30F|RABL5_uc011kkl.2_Missense_Mutation_p.V30F|RABL5_uc003uym.3_Missense_Mutation_p.V77F|RABL5_uc010lhw.3_Non-coding_Transcript|RABL5_uc011kkm.2_Missense_Mutation_p.V107F	NM_022777	NP_001124294	Q9H7X7	RABL5_HUMAN	Homo sapiens RAB, member RAS oncogene family-like 5 (RABL5), transcript variant 1, mRNA.	107							GTP binding	p.V107F(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					GGCTGTTGGACAAAGCAGGAA	0.502												
SLC26A5	375611	broad.mit.edu	37	7	103050961	103050961	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:103050961G>A	uc003vbz.3	-	6	868	c.606C>T	c.(604-606)gcC>gcT	p.A202A	SLC26A5_uc003vbt.2_Silent_p.A202A|SLC26A5_uc003vbu.2_Silent_p.A202A|SLC26A5_uc003vbv.2_Silent_p.A202A|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.A202A	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	202					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.A202A(2)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TGAGATATATGGCCACAAATC	0.408												
NUP205	23165	broad.mit.edu	37	7	135304420	135304420	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:135304420G>T	uc003vsw.3	+	28	4244	c.4213G>T	c.(4213-4215)Gac>Tac	p.D1405Y		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1405					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAACTGTTAGACTTCATTTT	0.303												
KEL	3792	broad.mit.edu	37	7	142650951	142650951	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:142650951G>A	uc003wcb.3	-	8	1227	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	339					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AATATTCCACGTCATGGACCA	0.537												
ARHGEF35	445328	broad.mit.edu	37	7	143884178	143884178	+	Silent	SNP	G	G	A	rs140097295		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:143884178G>A	uc003wdz.2	-	1	1472	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	ARHGEF35_uc022aog.1_Silent_p.P433P	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.	433										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						TCTGAGTCCCGGGAATCTGAG	0.567												
ADAM28	10863	broad.mit.edu	37	8	24181418	24181418	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:24181418G>A	uc003xdy.3	+	8	875	c.792G>A	c.(790-792)aaG>aaA	p.K264K	ADAM28_uc003xdx.3_Silent_p.K264K|ADAM28_uc011kzz.2_Silent_p.K31K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	264	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATAAGATAAAGATAACCCCAA	0.383												
JPH1	56704	broad.mit.edu	37	8	75171695	75171695	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:75171695C>T	uc003yae.3	-	2	1223	c.1183G>A	c.(1183-1185)Gcg>Acg	p.A395T	JPH1_uc003yaf.3_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	395	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.A395T(2)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGGCCAGCGCGGCCTGGTCG	0.597												
ENPP2	5168	broad.mit.edu	37	8	120629796	120629796	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:120629796G>A	uc003yos.2	-	5	573	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ENPP2_uc010mdd.2_Missense_Mutation_p.R163C|ENPP2_uc003yot.2_Missense_Mutation_p.R163C	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	163					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGGAGGGCGAACAAACCTT	0.368												
TSNARE1	203062	broad.mit.edu	37	8	143310871	143310871	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:143310871T>C	uc003ywj.3	-	11	1558	c.1519A>G	c.(1519-1521)Atc>Gtc	p.I507V	TSNARE1_uc011lju.2_Missense_Mutation_p.I505V|TSNARE1_uc003ywk.3_Missense_Mutation_p.I506V	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	506	Poly-Ile.				vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGGCGATGATGATGATGATG	0.512												
EPB41L4B	54566	broad.mit.edu	37	9	112017853	112017853	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr9:112017853C>T	uc004bdz.1	-	10	1402	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EPB41L4B_uc004bea.3_Silent_p.T369T	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	369	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.T369M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTTCCTGGCGTCCGCAGTC	0.522												
CXorf59	286464	broad.mit.edu	37	X	36103536	36103536	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:36103536C>T	uc004ddk.1	+	4	708	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	174						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						ATGTGCTGCTCCATTTGAGTG	0.353												
HDAC6	10013	broad.mit.edu	37	X	48661362	48661362	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:48661362G>A	uc011mmi.1	+	2	273	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	HDAC6_uc004dkr.1_Missense_Mutation_p.G60S|HDAC6_uc004dks.1_Missense_Mutation_p.G60S|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.G60S|HDAC6_uc004dku.4_Missense_Mutation_p.G60S|HDAC6_uc011mmj.1_Missense_Mutation_p.G5S|HDAC6_uc011mmk.1_Missense_Mutation_p.G41S	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	60					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAAGAAGCTCGGCCAAGCAAT	0.488												
SMC1A	8243	broad.mit.edu	37	X	53439144	53439144	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:53439144G>T	uc004dsg.3	-	5	983	c.914C>A	c.(913-915)aCc>aAc	p.T305N	SMC1A_uc011moe.2_Missense_Mutation_p.T283N|SMC1A_uc011mof.2_Intron	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	305					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTTGTGGGAGGTGTTCTCCTT	0.498												
TAF1	6872	broad.mit.edu	37	X	70627913	70627913	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:70627913C>T	uc004dzu.4	+	27	4344	c.4293C>T	c.(4291-4293)cgC>cgT	p.R1431R	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.R1452R|TAF1_uc004dzv.4_Silent_p.R605R|TAF1_uc010nld.1_Non-coding_Transcript|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1431	Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.R1431S(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAACACTCCGCGAAAACGTGC	0.443												
PGK1	5230	broad.mit.edu	37	X	77378404	77378404	+	Silent	SNP	T	T	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:77378404T>A	uc004ecz.4	+	6	886	c.714T>A	c.(712-714)ggT>ggA	p.G238G	PGK1_uc011mqq.2_Silent_p.G210G	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	238					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TTATTGGTGGTGGAATGGCTT	0.398												
RPA4	29935	broad.mit.edu	37	X	96139791	96139791	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:96139791C>T	uc004efv.4	+	0	885	c.482C>T	c.(481-483)aCg>aTg	p.T161M	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	161					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						ATTCTGGAAACGGTCAATGCA	0.458								Other identified genes with known or suspected DNA repair function				
PCDH19	57526	broad.mit.edu	37	X	99662858	99662858	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:99662858G>A	uc010nmz.3	-	0	2414	c.738C>T	c.(736-738)agC>agT	p.S246S	PCDH19_uc004efw.4_Silent_p.S246S|PCDH19_uc004efx.4_Silent_p.S246S	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	246	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTTCTGGCACGCTCACCGCGT	0.617												
MID2	11043	broad.mit.edu	37	X	107084402	107084402	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:107084402G>A	uc004enl.3	+	1	1080	c.507G>A	c.(505-507)acG>acA	p.T169T	MID2_uc004enk.3_Silent_p.T169T	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	169						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCGGGCCACGCACCCCAACA	0.552												
MAGEA6	4105	broad.mit.edu	37	X	151869622	151869622	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:151869622G>T	uc022chf.1	+	0	312	c.312G>T	c.(310-312)gaG>gaT	p.E104D	MAGEA6_uc004ffq.1_Missense_Mutation_p.E104D|MAGEA6_uc004ffr.1_Missense_Mutation_p.E104D	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	104							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGTCTGAGTTCCAAGCAG	0.547												
DKC1	1736	broad.mit.edu	37	X	154004585	154004585	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:154004585G>A	uc004fmm.3	+	13	1672	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	DKC1_uc010nvf.3_Missense_Mutation_p.E483K	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	488	Nuclear and nucleolar localization.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAGCGGGGCCGAGCCTGGAGA	0.532									Congenital Dyskeratosis			
