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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
IGKJ5	28946	broad.mit.edu	37	2	89160094	89160094	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:89160094C>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA|IGKJ5_ENST00000390238.2_RNA																							AATCTCCAGTCGTGTCCCTTG	0.383000													32	33					0	0	0.004289	0	0
PTPN5	84867	broad.mit.edu	37	11	18754872	18754872	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:18754872G>A	ENST00000396170.1	-	11	2296	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	PTPN5_ENST00000396167.2_Silent_p.I344I|PTPN5_ENST00000477854.1_Silent_p.I180I|PTPN5_ENST00000396171.4_Silent_p.I376I|PTPN5_ENST00000358540.2_Silent_p.I376I|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Silent_p.I352I	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	376	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CCGTGCTGACGATGGGTCCCT	0.617000													26	55					0	0	0.006320	0	0
LY9	4063	broad.mit.edu	37	1	160769762	160769762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:160769762C>T	ENST00000263285.5	+	2	374	c.344C>T	c.(343-345)tCc>tTc	p.S115F	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.S115F|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.S115F|LY9_ENST00000368041.2_Missense_Mutation_p.S75F	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	115	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGGAGTTACTCCCTGTGCATC	0.463000													42	83					0	0	0.008740	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79973189	79973189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:79973189C>T	ENST00000306729.7	+	13	1689	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L	ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Intron|ASPSCR1_ENST00000580534.1_Intron	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	534							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGTGGCGATCCCTCCCGAGTC	0.677000			T	TFE3	alveolar soft part sarcoma								12	30					0	0	0.001368	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174320	207174320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:207174320C>T	ENST00000374423.3	+	5	5454	c.5068C>T	c.(5068-5070)Cgg>Tgg	p.R1690W		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1690							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCCAGTCTTCGGAAGGATCC	0.458000													12	41					0	0	0.000978	0	0
LHCGR	3973	broad.mit.edu	37	2	48936151	48936151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:48936151C>T	ENST00000294954.7	-	8	637	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Missense_Mutation_p.E206K|LHCGR_ENST00000344775.3_Missense_Mutation_p.E206K|LHCGR_ENST00000405626.1_Missense_Mutation_p.E206K|LHCGR_ENST00000401907.1_Missense_Mutation_p.E206K	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	206					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.E206K(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGTACGTTTTCCTTTAGCTCC	0.507000													40	37					0	0	0.006999	0	0
ZBTB48	3104	broad.mit.edu	37	1	6649218	6649218	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:6649218C>T	ENST00000377674.4	+	11	2171	c.2013C>T	c.(2011-2013)gtC>gtT	p.V671V		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	671						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCAGGTGTCCTGGAGCCCT	0.652000													22	59					0	0	0.002299	0	0
PTPRT	11122	broad.mit.edu	37	20	40739043	40739043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:40739043G>A	ENST00000373198.3	-	24	3485	c.3250C>T	c.(3250-3252)Ctt>Ttt	p.L1084F	PTPRT_ENST00000356100.2_Missense_Mutation_p.L1071F|PTPRT_ENST00000373184.1_Missense_Mutation_p.L1072F|PTPRT_ENST00000373190.1_Missense_Mutation_p.L1061F|PTPRT_ENST00000373201.1_Missense_Mutation_p.L1052F|PTPRT_ENST00000373193.3_Missense_Mutation_p.L1065F|PTPRT_ENST00000373187.1_Missense_Mutation_p.L1062F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1062	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AAGCCCAGAAGGCCAGTGGCA	0.607000													26	59					0	0	0.004656	0	0
HGF	3082	broad.mit.edu	37	7	81388081	81388081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:81388081C>T	ENST00000222390.5	-	3	520	c.294G>A	c.(292-294)tgG>tgA	p.W98*	HGF_ENST00000354224.6_Nonsense_Mutation_p.W98*|HGF_ENST00000457544.2_Nonsense_Mutation_p.W98*|HGF_ENST00000453411.1_Nonsense_Mutation_p.W98*|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000444829.2_Nonsense_Mutation_p.W98*|HGF_ENST00000423064.2_Nonsense_Mutation_p.W98*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	98	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.W98C(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGAAGGGGAACCAGAGGCATT	0.323000													32	59					0	0	0.003271	0	0
ZNF679	168417	broad.mit.edu	37	7	63726906	63726906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:63726906G>A	ENST00000421025.1	+	5	1164	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	ZNF679_ENST00000255746.4_Missense_Mutation_p.E299K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATACACATGTGAAGAATGTGG	0.438000													9	13					0	0	0.004482	0	0
FUT9	10690	broad.mit.edu	37	6	96651698	96651698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:96651698G>A	ENST00000302103.5	+	3	993	c.667G>A	c.(667-669)Gga>Aga	p.G223R		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	223					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GCAAGCATTTGGAGAATATGT	0.368000													12	26					0	0	0.001368	0	0
TMEM175	84286	broad.mit.edu	37	4	951869	951869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:951869G>A	ENST00000264771.4	+	11	1285	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	TMEM175_ENST00000515740.1_Missense_Mutation_p.R251Q|TMEM175_ENST00000508204.1_Missense_Mutation_p.R285Q	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	367						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCTTCGCCCGGCAGCCCCGC	0.682000													4	55					0	0	0.000602	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120331436	120331436	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:120331436C>T	ENST00000397843.2	+	27	2749	c.2583C>T	c.(2581-2583)atC>atT	p.I861I	ARHGEF12_ENST00000532993.1_Silent_p.I758I|ARHGEF12_ENST00000356641.3_Silent_p.I842I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	861	DH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCTCTGTTATCGATCAGATTG	0.328000			T	MLL	AML								49	28					0	0	0.003610	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671589	31671589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:31671589C>T	ENST00000375483.3	+	3	586	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	196	Gly-rich.					cytoplasm|extracellular region	lipid binding										CGGAGGTGGTCTCCTTGGTGA	0.662000													27	39					0	0	0.002096	0	0
IGF2R	3482	broad.mit.edu	37	6	160471555	160471555	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:160471555C>T	ENST00000356956.1	+	19	2713	c.2565C>T	c.(2563-2565)acC>acT	p.T855T		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	855					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGGCAAAGACCGGCCCGGTGG	0.542000													39	62					0	0	0.002222	0	0
ZNF536	9745	broad.mit.edu	37	19	30935403	30935403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:30935403G>A	ENST00000355537.3	+	2	1081	c.934G>A	c.(934-936)Gag>Aag	p.E312K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCTTCGCAGGAGGAGGAGCT	0.642000													46	77					0	0	0.003610	0	0
AGO4	192670	broad.mit.edu	37	1	36282515	36282515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:36282515C>T	ENST00000373210.3	+	2	297	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		GCCACCTCGTCGTCCTGGCCT	0.378000													60	82					0	0	0.003610	0	0
C10orf71	118461	broad.mit.edu	37	10	50531454	50531454	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:50531454G>A	ENST00000374144.3	+	3	1152	c.864G>A	c.(862-864)ctG>ctA	p.L288L	C10orf71_ENST00000323868.4_Silent_p.L288L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	288										endometrium(1)	1						CAAAGCTGCTGGAGAGAAAGG	0.537000													15	9					0	0	0.004007	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													32	582					0	0	0.005524	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093442	30093442	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:30093442G>A	ENST00000567636.1	+	0	1817					NR_003558.1																						TGCCCCACCCGGCTTGATTCA	0.542000													57	47					0	0	0.003610	0	0
CUBN	8029	broad.mit.edu	37	10	16877024	16877024	+	Missense_Mutation	SNP	C	C	T	rs145661638		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:16877024C>T	ENST00000377833.4	-	64	10416	c.10351G>A	c.(10351-10353)Gat>Aat	p.D3451N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3451	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAAGAAATCGTTTCTGCAT	0.388000													5	21					0	0	0.000602	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638319	46638319	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:46638319G>T	ENST00000303383.3	-	6	1010	c.744C>A	c.(742-744)caC>caA	p.H248Q		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	248										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				ACAACAGATTGTGGTAGTCAA	0.383000													41	64					3.2641e-12	3.63556e-12	0.003214	1	0
SEMA4G	57715	broad.mit.edu	37	10	102739941	102739941	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:102739941C>T	ENST00000210633.3	+	10	1269	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Silent_p.V397V|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Silent_p.V397V			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	397	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CATCCCTGGTCCTGGACTTTG	0.572000													9	27					0	0	0.008291	0	0
ADD2	119	broad.mit.edu	37	2	70917918	70917918	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:70917918C>T	ENST00000264436.3	-	8	1293	c.849_splice	c.e8+1	p.K283_splice	ADD2_ENST00000407644.2_Splice_Site_p.K283_splice|ADD2_ENST00000413157.2_Splice_Site_p.K283_splice|ADD2_ENST00000355733.3_Splice_Site_p.K283_splice|ADD2_ENST00000430656.1_Splice_Site_p.K299_splice|AC007395.3_ENST00000457851.1_RNA	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	283					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTAAGCTAACCTTGCAGGTGG	0.488000													35	43					0	0	0.004878	0	0
ADORA3	140	broad.mit.edu	37	1	112026335	112026335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:112026335C>T	ENST00000369716.4	-	6	1151	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	ADORA3_ENST00000369717.4_Missense_Mutation_p.E259K	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGAGCCATTTCCTTTGGAGTC	0.423000													10	6					0	0	0.008291	0	0
CRTC3	64784	broad.mit.edu	37	15	91150629	91150629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:91150629C>T	ENST00000420329.2	+	6	643	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	CRTC3_ENST00000558619.1_3'UTR|CTD-3065B20.3_ENST00000559839.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.L166F	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	166					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TGATTCTGCTCTTCACACGAG	0.522000			T	MAML2	salivary gland mucoepidermoid								41	65					0	0	0.003610	0	0
POTEC	388468	broad.mit.edu	37	18	14542758	14542758	+	Missense_Mutation	SNP	C	C	T	rs145930826		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:14542758C>T	ENST00000358970.5	-	1	387	c.388G>A	c.(388-390)Gag>Aag	p.E130K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	130								p.E130K(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TACCTCGGCTCCATGAAGGCG	0.607000													5	104					0	0	0.003080	0	0
ROCK2	9475	broad.mit.edu	37	2	11338879	11338879	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:11338879G>T	ENST00000315872.6	-	24	3380	c.2932C>A	c.(2932-2934)Cta>Ata	p.L978I	ROCK2_ENST00000401753.1_Missense_Mutation_p.L735I	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	978					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.L978I(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCACTAGTTAGTGTCCTATTA	0.269000													11	20					0.00010058	0.000111064	0.001368	1	0
OR51T1	401665	broad.mit.edu	37	11	4903607	4903607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:4903607C>T	ENST00000380378.1	+	1	559	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.P160S|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTCTTACTTCCCCTTCTTGT	0.458000													26	136					0	0	0.005443	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208807	140208807	+	Silent	SNP	C	C	T	rs147499647		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140208807C>T	ENST00000529310.1	+	1	1245	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.L377L|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACCTCGATTCAGGTG	0.512000													34	120					0	0	0.006230	0	0
ZNF684	127396	broad.mit.edu	37	1	41012272	41012272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:41012272C>T	ENST00000372699.3	+	5	528	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AGGGAAGCATCGGGAAAGCAA	0.353000													17	41					0	0	0.008871	0	0
ALPL	249	broad.mit.edu	37	1	21889741	21889741	+	Missense_Mutation	SNP	G	G	A	rs138587317		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:21889741G>A	ENST00000374840.3	+	5	686	c.436G>A	c.(436-438)Gag>Aag	p.E146K	ALPL_ENST00000540617.1_Missense_Mutation_p.E91K|ALPL_ENST00000374832.1_Missense_Mutation_p.E146K|ALPL_ENST00000539907.1_Missense_Mutation_p.E69K|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.E146K	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	146					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.E146K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCAGGGGAACGAGGTCACCTC	0.667000													23	33					0	0	0.002299	0	0
KERA	11081	broad.mit.edu	37	12	91445191	91445191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:91445191C>T	ENST00000266719.3	-	3	1238	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	331					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GGTTTGATTTCATTTCCATCC	0.418000													10	41					0	0	0.008291	0	0
LAMA1	284217	broad.mit.edu	37	18	6971939	6971939	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:6971939C>T	ENST00000389658.3	-	48	6909	c.6816G>A	c.(6814-6816)ttG>ttA	p.L2272L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2272	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGCCTCCCCCAAGCAGCCTT	0.433000													6	41					0	0	0.001984	0	0
AKT1	207	broad.mit.edu	37	14	105242064	105242064	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:105242064G>A	ENST00000554581.1	-	4	1840	c.360C>T	c.(358-360)ttC>ttT	p.F120F	AKT1_ENST00000544168.1_Silent_p.F58F|AKT1_ENST00000402615.2_Silent_p.F120F|AKT1_ENST00000349310.3_Silent_p.F120F|AKT1_ENST00000554848.1_Silent_p.F120F|AKT1_ENST00000555528.1_Silent_p.F120F|AKT1_ENST00000407796.2_Silent_p.F120F			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	120					activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGCCCGACCGGAAGTCCATCT	0.637000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								23	41					0	0	0.003330	0	0
AHCYL2	23382	broad.mit.edu	37	7	129066334	129066334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:129066334G>A	ENST00000325006.3	+	16	1813	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	AHCYL2_ENST00000474594.1_Missense_Mutation_p.E484K|AHCYL2_ENST00000490911.1_Missense_Mutation_p.E484K|AHCYL2_ENST00000446212.1_Missense_Mutation_p.E485K|AHCYL2_ENST00000531335.2_Missense_Mutation_p.E506K|AHCYL2_ENST00000446544.2_Missense_Mutation_p.E586K	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	587					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CCACTTGACAGAGCTGACAGA	0.502000													34	61					0	0	0.002096	0	0
MYOM2	9172	broad.mit.edu	37	8	2017449	2017449	+	Missense_Mutation	SNP	G	G	A	rs149104727		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:2017449G>A	ENST00000262113.4	+	7	847	c.706G>A	c.(706-708)Gga>Aga	p.G236R	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	236	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAATGCCCACGGACAAGTGTC	0.552000													26	35					0	0	0.007291	0	0
ZNF226	7769	broad.mit.edu	37	19	44680638	44680638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:44680638C>T	ENST00000590089.1	+	7	1590	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S408F|ZNF226_ENST00000454662.2_Missense_Mutation_p.S408F			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CATCTTCAATCCCATCAAAGA	0.443000													11	36					0	0	0.000978	0	0
MROH2B	133558	broad.mit.edu	37	5	41058177	41058177	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:41058177G>A	ENST00000399564.4	-	7	1194	c.744C>T	c.(742-744)ttC>ttT	p.F248F	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GAGTGACATGGAAATCAATCT	0.527000													17	38					0	0	0.001523	0	0
NDST4	64579	broad.mit.edu	37	4	115997281	115997281	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:115997281G>A	ENST00000264363.2	-	2	1590	c.912C>T	c.(910-912)atC>atT	p.I304I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	304	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTCCACAAGGATGTACCTGT	0.403000													17	71					0	0	0.004990	0	0
HEXB	3074	broad.mit.edu	37	5	74012481	74012481	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:74012481A>T	ENST00000511181.1	+	9	1389	c.477A>T	c.(475-477)gaA>gaT	p.E159D	HEXB_ENST00000261416.7_Missense_Mutation_p.E384D			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	384					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		AGAAACTAGAATCTTTCTACA	0.269000													11	32					0	0	0.002450	0	0
RNF217	154214	broad.mit.edu	37	6	125397950	125397950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:125397950C>T	ENST00000521654.2	+	4	1429	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	RNF217_ENST00000275184.6_Missense_Mutation_p.R121C|RNF217_ENST00000560949.1_Missense_Mutation_p.R242C|RNF217_ENST00000368414.2_Missense_Mutation_p.R39C|RNF217_ENST00000359704.2_Missense_Mutation_p.R185C			Q8TC41	RN217_HUMAN	ring finger protein 217	185					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATGCAAATATCGCTACCTCCC	0.438000													30	82					0	0	0.008361	0	0
C1QC	714	broad.mit.edu	37	1	22974110	22974110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:22974110C>T	ENST00000374639.3	+	3	690	c.572C>T	c.(571-573)aCc>aTc	p.T191I	C1QC_ENST00000374637.1_Missense_Mutation_p.T191I|C1QC_ENST00000374640.4_Missense_Mutation_p.T191I	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	191	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAAGTGGTCACCTTCTGTGGC	0.587000													21	55					0	0	0.001882	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916831	42916831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:42916831C>T	ENST00000316161.4	-	1	802	c.478G>A	c.(478-480)Gat>Aat	p.D160N	CYP8B1_ENST00000437102.1_Missense_Mutation_p.D160N|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	160					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CAACTGGCATCCAGACTCCAG	0.522000													31	46					0	0	0.008361	0	0
EVPL	2125	broad.mit.edu	37	17	74013831	74013831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:74013831G>A	ENST00000301607.3	-	14	1952	c.1699C>T	c.(1699-1701)Cac>Tac	p.H567Y	EVPL_ENST00000586740.1_Missense_Mutation_p.H589Y	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	567	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCATGGCTGTGGATGCGGCCC	0.687000													27	45					0	0	0.006320	0	0
CYP2C18	1562	broad.mit.edu	37	10	96484201	96484201	+	Missense_Mutation	SNP	G	G	A	rs142667327		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:96484201G>A	ENST00000285979.6	+	7	1259	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.E295K	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGTGGTGCACGAGATCCAGAG	0.498000													65	53					0	0	0.003610	0	0
NEO1	4756	broad.mit.edu	37	15	73590734	73590734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:73590734C>T	ENST00000339362.5	+	28	4394	c.3947C>T	c.(3946-3948)tCg>tTg	p.S1316L	NEO1_ENST00000558964.1_Missense_Mutation_p.S1305L|NEO1_ENST00000261908.6_Missense_Mutation_p.S1316L|NEO1_ENST00000560262.1_Missense_Mutation_p.S1263L			Q92859	NEO1_HUMAN	neogenin 1	1316					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCAGCCTCTTCGTCTCAAACA	0.493000													25	43					0	0	0.003954	0	0
SERPINA3	12	broad.mit.edu	37	14	95081262	95081262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:95081262G>A	ENST00000553947.1	+	5	1447	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	SERPINA3_ENST00000393078.3_Missense_Mutation_p.G162S|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Missense_Mutation_p.G162S|SERPINA3_ENST00000467132.1_Missense_Mutation_p.G162S			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	162					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAGGCTGTATGGCTCCGAGGC	0.512000													18	29					0	0	0.007413	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390381	150390381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150390381G>A	ENST00000223293.5	+	3	1101	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	336						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGACTCCTAGGTTATAGTTA	0.323000													14	27					0	0	0.001855	0	0
DDX60L	91351	broad.mit.edu	37	4	169279421	169279421	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:169279421G>A	ENST00000511577.1	-	38	5245	c.4998C>T	c.(4996-4998)tcC>tcT	p.S1666S	DDX60L_ENST00000260184.7_Silent_p.S1666S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1666							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTCACTCAAGGAGTCACTGt	0.294000													8	18					0	0	0.003080	0	0
MYO3A	53904	broad.mit.edu	37	10	26455066	26455066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:26455066G>A	ENST00000265944.5	+	27	3236	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1024	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CACCATTTTGGAAAAAGCTGG	0.423000													35	174					0	0	0.002836	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054681	4054681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:4054681G>A	ENST00000322357.4	-	2	828	c.550C>T	c.(550-552)Ccg>Tcg	p.P184S	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.P184S	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	184	Ala-rich.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGACCACGGGAAGCTGGCA	0.706000													5	5					0	0	0.000602	0	0
ITGA4	3676	broad.mit.edu	37	2	182340015	182340015	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:182340015G>A	ENST00000397033.2	+	4	986	c.556_splice	c.e4+1	p.D186_splice	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Splice_Site_p.G186_splice	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	186					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTGTTATCAAGGTAAGGCATG	0.358000													51	51					0	0	0.003610	0	0
TOX3	27324	broad.mit.edu	37	16	52497939	52497939	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:52497939C>T	ENST00000219746.9	-	3	599	c.315G>A	c.(313-315)caG>caA	p.Q105Q	TOX3_ENST00000407228.3_Silent_p.Q100Q	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	105					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GAGGGGGAAACTGGGGTGTGA	0.532000													30	51					0	0	0.007291	0	0
PPARG	5468	broad.mit.edu	37	3	12447402	12447402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:12447402C>T	ENST00000397026.2	+	7	958	c.575C>T	c.(574-576)cCa>cTa	p.P192L	PPARG_ENST00000287820.6_Missense_Mutation_p.P214L|PPARG_ENST00000397010.2_Missense_Mutation_p.P186L|PPARG_ENST00000397015.2_Missense_Mutation_p.P186L|PPARG_ENST00000539812.1_Missense_Mutation_p.P184L|PPARG_ENST00000397000.1_Missense_Mutation_p.P186L|PPARG_ENST00000397012.2_Missense_Mutation_p.P186L|PPARG_ENST00000309576.6_Missense_Mutation_p.P186L			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	214					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	GGGCGGATGCCACAGGCCGAG	0.532000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						149	292					0	0	0.003610	0	0
DMBT1	1755	broad.mit.edu	37	10	124351993	124351993	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124351993C>T	ENST00000368909.3	+	20	2488	c.2382C>T	c.(2380-2382)ccC>ccT	p.P794P	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Silent_p.P784P|DMBT1_ENST00000338354.3_Silent_p.P794P|DMBT1_ENST00000344338.3_Silent_p.P784P|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	794	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTCAGGACCCATTGTTCTGG	0.607000													77	98					0	0	0.003610	0	0
OR10H3	26532	broad.mit.edu	37	19	15852646	15852646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:15852646G>A	ENST00000305892.1	+	1	444	c.444G>A	c.(442-444)tgG>tgA	p.W148*		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTGTGGCCTGGACCTGGGCTG	0.512000													41	24					0	0	0.006230	0	0
MSRA	4482	broad.mit.edu	37	8	10159071	10159071	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:10159071G>T	ENST00000528246.1	+	5	784	c.161G>T	c.(160-162)cGa>cTa	p.R54L	MSRA_ENST00000382490.5_Missense_Mutation_p.R77L|MSRA_ENST00000441698.2_Missense_Mutation_p.R80L|MSRA_ENST00000518255.1_Missense_Mutation_p.R120L|MSRA_ENST00000317173.4_Missense_Mutation_p.R120L	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	120					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GAAGTCGTCCGAGTGGTGTAC	0.433000													23	67					2.98393e-07	3.30278e-07	0.002780	1	0
RAB40B	10966	broad.mit.edu	37	17	80616565	80616565	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:80616565G>A	ENST00000571995.1	-	5	498	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	RAB40B_ENST00000538809.2_Intron|RAB40B_ENST00000269347.6_5'UTR	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	123					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTCCCCACCAGGATCTTGGGG	0.627000													16	25					0	0	0.004990	0	0
PARP9	83666	broad.mit.edu	37	3	122255868	122255868	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:122255868G>A	ENST00000462315.1	-	9	2111	c.1818C>T	c.(1816-1818)atC>atT	p.I606I	PARP9_ENST00000471785.1_Silent_p.I606I|PARP9_ENST00000477522.2_Silent_p.I606I|PARP9_ENST00000360356.2_Silent_p.I641I|PARP9_ENST00000492382.1_Silent_p.I186I	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	641					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCAGAAATATGATATTTTCTT	0.353000													47	55					0	0	0.003610	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668133	71668133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:71668133G>A	ENST00000567501.1	+	3	265	c.73G>A	c.(73-75)Gat>Aat	p.D25N	MARVELD3_ENST00000268485.3_Silent_p.L211L|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron			Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0	Arg-rich.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TGAACTTGCTGATCCTGGCCT	0.527000													25	68					0	0	0.003330	0	0
NLRP5	126206	broad.mit.edu	37	19	56539295	56539295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56539295C>T	ENST00000390649.3	+	7	1696	c.1696C>T	c.(1696-1698)Cac>Tac	p.H566Y		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	566	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGCTCTGTTTCACATGAACAT	0.532000													8	28					0	0	0.004482	0	0
TBX18	9096	broad.mit.edu	37	6	85472279	85472279	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:85472279G>A	ENST00000369663.5	-	2	817	c.480C>T	c.(478-480)atC>atT	p.I160I	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Silent_p.I2I	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	160					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCTTGGTGATGATCATCTCAG	0.647000													58	114					0	0	0.003610	0	0
MIR517B	574483	broad.mit.edu	37	19	54224381	54224381	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:54224381C>T	ENST00000385102.1	+	0	52					NR_030205.1																						GATCGTGCATCCCTTTAGAGT	0.413000													36	85					0	0	0.004878	0	0
GZMA	3001	broad.mit.edu	37	5	54405854	54405854	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:54405854T>G	ENST00000274306.6	+	5	668	c.633T>G	c.(631-633)gaT>gaG	p.D211E		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	211	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TCCAGGGAGATTCTGGAAGCC	0.478000													21	12					0	0	0.001882	0	0
CDK18	5129	broad.mit.edu	37	1	205496927	205496927	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:205496927C>T	ENST00000360066.2	+	9	1036	c.735C>T	c.(733-735)ttC>ttT	p.F245F	CDK18_ENST00000429964.2_Silent_p.F245F|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.F275F	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	243	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CCCAGATTTTCATGTTCCAGC	0.637000													23	44					0	0	0.001882	0	0
SCN10A	6336	broad.mit.edu	37	3	38739464	38739464	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:38739464C>T	ENST00000449082.2	-	27	5246	c.5247G>A	c.(5245-5247)gaG>gaA	p.E1749E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1749					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGTCAAACTTCTCCCAGGTCT	0.498000													26	67					0	0	0.005443	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974680	21974680	+	Silent	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:21974680G>T	ENST00000304494.5	-	1	417	c.147C>A	c.(145-147)atC>atA	p.I49I	CDKN2A_ENST00000498124.1_Silent_p.I49I|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Silent_p.I49I|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Silent_p.I49I	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	49			I -> S (in a biliary tract tumor).|I -> T.		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(1)|p.0(1)|p.V28_V51del(1)|p.I49M(1)|p.I49I(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TACCCACCTGGATCGGCCTCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			151	114					4.44197e-71	4.98919e-71	0.003610	1	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651372	1651372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:1651372C>T	ENST00000399676.2	+	1	340	c.302C>T	c.(301-303)tCc>tTc	p.S101F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	101	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTGTCTCCTGTGGGGTG	0.677000													81	108					0	0	0.003610	0	0
TLR9	54106	broad.mit.edu	37	3	52256018	52256018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:52256018C>T	ENST00000597542.1	-	9	3343	c.2386G>A	c.(2386-2388)Gac>Aac	p.D796N	TLR9_ENST00000360658.2_Missense_Mutation_p.D772N|TLR9_ENST00000494383.1_Missense_Mutation_p.G925E			Q9NR96	TLR9_HUMAN	toll-like receptor 9	772					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGCAGGAAGTCCATAAAGGCC	0.642000													18	32					0	0	0.007413	0	0
C12orf40	283461	broad.mit.edu	37	12	40078685	40078685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:40078685G>A	ENST00000324616.5	+	10	1457	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	C12orf40_ENST00000405531.3_Missense_Mutation_p.E435K	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	435										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TATACCTTCGGAAGAATTGCA	0.368000													14	30					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9074883	9074883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9074883G>A	ENST00000397910.4	-	3	12766	c.12563C>T	c.(12562-12564)cCt>cTt	p.P4188L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4190	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						TGAGGTCACAGGTGGAGTAGA	0.502000													35	71					0	0	0.003271	0	0
GPS1	2873	broad.mit.edu	37	17	80010326	80010326	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:80010326G>A	ENST00000392358.2	+	1	493	c.144G>A	c.(142-144)ctG>ctA	p.L48L	GPS1_ENST00000306823.6_Intron|GPS1_ENST00000578552.1_Intron|GPS1_ENST00000355130.2_Silent_p.L48L|GPS1_ENST00000320548.4_5'UTR	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	0					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTGTACGCTGCTCTACGAGG	0.701000													4	19					0	0	0.000248	0	0
DOCK1	1793	broad.mit.edu	37	10	128788767	128788767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:128788767C>T	ENST00000280333.6	+	6	482	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	125					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GATCTATGACCTTATTGAATG	0.398000													11	11					0	0	0.008291	0	0
WRN	7486	broad.mit.edu	37	8	31024698	31024698	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:31024698C>T	ENST00000298139.5	+	34	4392	c.4143C>T	c.(4141-4143)atC>atT	p.I1381I	RP11-363L24.3_ENST00000521252.1_RNA	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1381					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGAAGAGATCTGTTCAAGTT	0.373000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				17	26					0	0	0.004007	0	0
CLCN6	1185	broad.mit.edu	37	1	11897474	11897474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:11897474C>T	ENST00000346436.6	+	20	2265	c.2213C>T	c.(2212-2214)cCt>cTt	p.P738L	CLCN6_ENST00000376496.3_Missense_Mutation_p.P738L|CLCN6_ENST00000376487.3_Missense_Mutation_p.P716L|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	738					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CGGTTCCGCCCTCTGACCTTC	0.557000													24	57					0	0	0.003330	0	0
ZNF418	147686	broad.mit.edu	37	19	58438246	58438246	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:58438246A>C	ENST00000396147.1	-	4	1594	c.1303T>G	c.(1303-1305)Ttt>Gtt	p.F435V	ZNF418_ENST00000599852.1_Missense_Mutation_p.F350V|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.F435V|ZNF418_ENST00000425570.3_Missense_Mutation_p.F456V	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTTCGACTAAAAGATTTCCCA	0.463000													60	113					0	0	0.003610	0	0
CXCR1	3577	broad.mit.edu	37	2	219029056	219029056	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219029056C>T	ENST00000295683.2	-	2	999	c.879G>A	c.(877-879)ctG>ctA	p.L293L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	293					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGAGAAATCCCAGAATCTCAG	0.567000													29	43					0	0	0.008361	0	0
FAM47B	170062	broad.mit.edu	37	X	34961230	34961230	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:34961230G>A	ENST00000329357.5	+	1	318	c.282G>A	c.(280-282)aaG>aaA	p.K94K		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	94										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAAGCAGGAAGAAAAAGCTGC	0.527000													48	12					0	0	0.003610	0	0
TLE2	7089	broad.mit.edu	37	19	3005910	3005910	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:3005910G>A	ENST00000262953.6	-	16	1819	c.1557C>T	c.(1555-1557)atC>atT	p.I519I	TLE2_ENST00000443826.3_Silent_p.I397I|TLE2_ENST00000426948.2_Silent_p.I533I|TLE2_ENST00000591529.1_Silent_p.I533I|TLE2_ENST00000590536.1_Silent_p.I520I|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Silent_p.I397I|TLE2_ENST00000447365.2_Silent_p.I186I	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	519					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		CACCGCCCACGATCAGACTCC	0.652000													32	42					0	0	0.002096	0	0
OTOP3	347741	broad.mit.edu	37	17	72943179	72943179	+	Missense_Mutation	SNP	C	C	T	rs138864901		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:72943179C>T	ENST00000328801.4	+	6	1229	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	410						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GTCAAGAACCCTACCCGCAGC	0.622000													13	47					0	0	0.001855	0	0
SGK2	10110	broad.mit.edu	37	20	42199298	42199298	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:42199298C>T	ENST00000373100.1	+	8	862	c.402C>T	c.(400-402)ccC>ccT	p.P134P	SGK2_ENST00000373077.1_Silent_p.P133P|SGK2_ENST00000341458.4_Silent_p.P194P|SGK2_ENST00000373092.3_Silent_p.P134P|SGK2_ENST00000426287.1_Silent_p.P160P|SGK2_ENST00000423407.3_Silent_p.P134P|SGK2_ENST00000485914.1_3'UTR			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	194	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCTGGAGCCCCGGGCCAGGT	0.632000													19	65					0	0	0.003330	0	0
ROS1	6098	broad.mit.edu	37	6	117683872	117683872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:117683872C>T	ENST00000368508.3	-	21	3473	c.3275G>A	c.(3274-3276)aGt>aAt	p.S1092N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S1087N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1092	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTTTGTAATACTTTGATTGGA	0.363000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								26	43					0	0	0.005443	0	0
MED15	51586	broad.mit.edu	37	22	20929471	20929471	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:20929471C>T	ENST00000263205.7	+	9	1293	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	MED15_ENST00000292733.7_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000478831.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	408	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCGCTGTGTCCGCCATCCCGT	0.627000													38	59					0	0	0.004878	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101794093	101794093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:101794093G>A	ENST00000506729.1	-	6	1295	c.1124C>T	c.(1123-1125)gCt>gTt	p.A375V	SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A375V|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A313V|SLCO6A1_ENST00000379810.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	375						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TACCCAAAGAGCAGCACATAA	0.313000													48	87					0	0	0.003610	0	0
OR2A7	401427	broad.mit.edu	37	7	143955995	143955995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143955995G>A	ENST00000493325.1	-	1	820	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	RP4-798C17.6_ENST00000478806.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					ACACAGAGGTGGGAGAAGCAG	0.453000													52	273					0	0	0.003610	0	0
NUMA1	4926	broad.mit.edu	37	11	71721864	71721864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:71721864G>A	ENST00000393695.3	-	17	5018	c.4687C>T	c.(4687-4689)Caa>Taa	p.Q1563*	NUMA1_ENST00000358965.6_Nonsense_Mutation_p.Q1549*|NUMA1_ENST00000351960.6_Nonsense_Mutation_p.Q427*	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1563					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTGCTGGCTTGGTCAGAGTCA	0.567000			T	RARA	APL								105	614					0	0	0.003610	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:84628811C>T	ENST00000284136.6	-	17	2322	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453000													15	38					0	0	0.003163	0	0
SPHK2	56848	broad.mit.edu	37	19	49129253	49129253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:49129253C>T	ENST00000443164.1	+	1	1036	c.331C>T	c.(331-333)Ccg>Tcg	p.P111S	SPHK2_ENST00000599748.1_Missense_Mutation_p.P13S|SPHK2_ENST00000340932.3_Missense_Mutation_p.P13S|SPHK2_ENST00000598088.1_Missense_Mutation_p.P49S|SPHK2_ENST00000245222.4_Missense_Mutation_p.P49S|SPHK2_ENST00000599029.1_Missense_Mutation_p.P13S|SPHK2_ENST00000601712.1_Missense_Mutation_p.P13S|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000600537.1_Intron			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	49	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGCCAGCACCCCGCTCCTCCA	0.697000													19	25					0	0	0.006122	0	0
CTDSP1	58190	broad.mit.edu	37	2	219266430	219266430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219266430C>T	ENST00000273062.2	+	2	547	c.211C>T	c.(211-213)Cct>Tct	p.P71S	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.P71S	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	71					protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCGCCATCCCTAAGGTGCG	0.642000													5	15					0	0	0.001168	0	0
GLDN	342035	broad.mit.edu	37	15	51687123	51687123	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:51687123G>A	ENST00000335449.6	+	5	689	c.633G>A	c.(631-633)ggG>ggA	p.G211G	GLDN_ENST00000396399.2_Silent_p.G87G	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	211	Collagen-like 2.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GCCCACCAGGGCAGAAGGGAG	0.577000													9	37					0	0	0.008291	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128139	117128139	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:117128139C>T	ENST00000310357.3	-	3	750	c.729G>A	c.(727-729)gaG>gaA	p.E243E	GPRC6A_ENST00000530250.1_Silent_p.E243E|GPRC6A_ENST00000368549.3_Silent_p.E243E	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	243					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)		CTGGAAGAACCTCTTTGAAGG	0.388000													33	67					0	0	0.002836	0	0
INSC	387755	broad.mit.edu	37	11	15170714	15170714	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:15170714G>A	ENST00000379554.3	+	2	181	c.135G>A	c.(133-135)ggG>ggA	p.G45G	INSC_ENST00000379556.3_5'UTR|INSC_ENST00000528567.1_5'UTR|INSC_ENST00000424273.1_5'UTR|INSC_ENST00000530161.1_5'UTR|INSC_ENST00000525218.1_5'UTR	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	45					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCAGATTGGGATCAACATGA	0.582000													9	40					0	0	0.006214	0	0
OR2T2	401992	broad.mit.edu	37	1	248616348	248616348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248616348C>T	ENST00000342927.3	+	1	272	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAGATGCTCCAGGACCTCCT	0.537000													40	194					0	0	0.003610	0	0
CLEC16A	23274	broad.mit.edu	37	16	11097026	11097026	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:11097026G>A	ENST00000409790.1	+	11	1397	c.1167G>A	c.(1165-1167)aaG>aaA	p.K389K	CLEC16A_ENST00000409552.3_Silent_p.K387K	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	389										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGGTGCAAAAGAGACCCAACT	0.547000													16	34					0	0	0.004990	0	0
LPIN1	23175	broad.mit.edu	37	2	11911506	11911506	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:11911506C>T	ENST00000256720.2	+	4	390	c.297C>T	c.(295-297)atC>atT	p.I99I	LPIN1_ENST00000396099.1_Silent_p.I105I|LPIN1_ENST00000396098.1_Silent_p.I105I|LPIN1_ENST00000425416.2_Silent_p.I105I|LPIN1_ENST00000449576.2_Silent_p.I148I	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	99	N-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AGGAAGTTATCCCTATGCACC	0.507000													7	53					0	0	0.003080	0	0
ALK	238	broad.mit.edu	37	2	29754789	29754789	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:29754789C>T	ENST00000389048.3	-	4	2052	c.1146G>A	c.(1144-1146)ggG>ggA	p.G382G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	382	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ACCCATGCTTCCCTGGAGTGG	0.498000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				26	26					0	0	0.005443	0	0
TENM3	55714	broad.mit.edu	37	4	183675766	183675766	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:183675766C>T	ENST00000511685.1	+	22	4369	c.4246C>T	c.(4246-4248)Ctg>Ttg	p.L1416L	TENM3_ENST00000406950.2_Silent_p.L1416L|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.L1416M(1)									CAGTGGGGTCCTGTACATTAC	0.502000													12	35					0	0	0.001368	0	0
MED14	9282	broad.mit.edu	37	X	40518793	40518793	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:40518793C>A	ENST00000324817.1	-	27	3869	c.3751G>T	c.(3751-3753)Gta>Tta	p.V1251L		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1251					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTAAGAGCTACTCTGCATTTC	0.393000													24	14					2.79863e-10	3.11432e-10	0.004656	1	0
GP2	2813	broad.mit.edu	37	16	20322599	20322599	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:20322599G>A	ENST00000302555.5	-	11	1700	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	GP2_ENST00000381362.4_Silent_p.F520F|GP2_ENST00000341642.5_Silent_p.F370F|GP2_ENST00000381360.5_Silent_p.F373F			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	520						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGCCACCAGGAACCCTGAAA	0.502000													9	53					0	0	0.004482	0	0
KCNQ4	9132	broad.mit.edu	37	1	41303398	41303398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:41303398G>A	ENST00000347132.5	+	13	1889	c.1807G>A	c.(1807-1809)Ggg>Agg	p.G603R	KCNQ4_ENST00000509682.2_Missense_Mutation_p.G549R|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	603	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGGCGACAAGGGGCCCTCCGA	0.652000													13	21					0	0	0.003163	0	0
ATRX	546	broad.mit.edu	37	X	76931741	76931741	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:76931741G>T	ENST00000373344.5	-	10	4003	c.3789C>A	c.(3787-3789)gaC>gaA	p.D1263E	ATRX_ENST00000395603.3_Missense_Mutation_p.D1225E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1263	Poly-Asp.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GATCATTGTCGTCATCATCAT	0.383000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						20	6					3.01185e-09	3.3446e-09	0.003954	1	0
CYP11B1	1584	broad.mit.edu	37	8	143956468	143956468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:143956468C>T	ENST00000292427.4	-	8	1335	c.1303G>A	c.(1303-1305)Ggc>Agc	p.G435S	CYP11B1_ENST00000377675.3_Missense_Mutation_p.G506S|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	435					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AAGTTCCTGCCGGAGCCCCTG	0.632000									Familial Hyperaldosteronism type I				67	59					0	0	0.003610	0	0
PRKDC	5591	broad.mit.edu	37	8	48746891	48746891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:48746891G>A	ENST00000314191.2	-	60	8071	c.8015C>T	c.(8014-8016)cCc>cTc	p.P2672L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P2672L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2673	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTCAGATGAGGGACTGGTGTG	0.537000								Non-homologous end-joining					72	121					0	0	0.003610	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423353	107423353	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:107423353G>A	ENST00000409382.3	-	6	1981	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	ST6GAL2_ENST00000361686.4_Silent_p.I457I	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	457					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCACGGATGGGATATATTCAT	0.507000													11	31					0	0	0.000978	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280037	22280037	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:22280037G>A	ENST00000390431.3	+	0	226																											CAATGACAAGGGAAGGAACAA	0.463000													7	31					0	0	0.001984	0	0
WDR72	256764	broad.mit.edu	37	15	53901721	53901721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:53901721G>A	ENST00000396328.1	-	17	3180	c.2941C>T	c.(2941-2943)Cag>Tag	p.Q981*	WDR72_ENST00000557913.1_Nonsense_Mutation_p.Q978*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.Q991*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.Q981*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	981										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGCACAGACTGGTCTCTCCAA	0.398000													8	26					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9068160	9068160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9068160G>A	ENST00000397910.4	-	3	19489	c.19286C>T	c.(19285-19287)aCc>aTc	p.T6429I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6431	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						AGAAAGCATGGTGACAGATCT	0.512000													70	130					0	0	0.003610	0	0
ACTR1A	10121	broad.mit.edu	37	10	104248027	104248027	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:104248027G>A	ENST00000369905.4	-	4	258	c.195C>T	c.(193-195)caC>caT	p.H65H	ACTR1A_ENST00000487599.1_Silent_p.H65H|ACTR1A_ENST00000545684.1_5'UTR|ACTR1A_ENST00000446605.2_Silent_p.H18H	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	65					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCAGCCCTCGGTGCTCCTGGG	0.517000													10	51					0	0	0.008291	0	0
PLBD1	79887	broad.mit.edu	37	12	14689571	14689571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:14689571G>A	ENST00000240617.5	-	5	1284	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	211					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GTTTTTTGTGGGAGAGAGTGA	0.448000													28	58					0	0	0.006320	0	0
GRIN1	2902	broad.mit.edu	37	9	140040184	140040184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:140040184C>T	ENST00000371561.3	+	3	1497	c.400C>T	c.(400-402)Cac>Tac	p.H134Y	GRIN1_ENST00000350902.5_Missense_Mutation_p.H134Y|GRIN1_ENST00000371553.3_Missense_Mutation_p.H134Y|GRIN1_ENST00000371560.3_Missense_Mutation_p.H134Y|GRIN1_ENST00000371546.4_Missense_Mutation_p.H134Y|GRIN1_ENST00000371550.4_Missense_Mutation_p.H134Y|GRIN1_ENST00000371559.4_Missense_Mutation_p.H134Y|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Missense_Mutation_p.H134Y|GRIN1_ENST00000371555.4_Missense_Mutation_p.H134Y	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	134					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCAGAGCATCCACCTGAGCTT	0.692000													9	11					0	0	0.008291	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39156090	39156090	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:39156090A>C	ENST00000391587.1	-	1	48	c.16T>G	c.(16-18)Tct>Gct	p.S6A		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	6	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				CAGCTGCGAGAGGCACAGCAA	0.547000													31	61					0	0	0.003271	0	0
FBN2	2201	broad.mit.edu	37	5	127664510	127664510	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:127664510A>G	ENST00000508053.1	-	40	5323	c.4349T>C	c.(4348-4350)gTt>gCt	p.V1450A	FBN2_ENST00000262464.4_Missense_Mutation_p.V1450A|FBN2_ENST00000508989.1_Missense_Mutation_p.V1417A|FBN2_ENST00000507835.1_Missense_Mutation_p.V300A			P35556	FBN2_HUMAN	fibrillin 2	1450	EGF-like 24; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACACTCATCAACATCTGTGCA	0.423000													19	11					0	0	0.001523	0	0
ARMC4	55130	broad.mit.edu	37	10	28233336	28233336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28233336C>T	ENST00000305242.5	-	12	1650	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	ARMC4_ENST00000545014.1_Missense_Mutation_p.E45K|ARMC4_ENST00000537576.1_Missense_Mutation_p.E212K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	520							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGACTGATTTCCTTCAGTATT	0.343000													12	28					0	0	0.002450	0	0
SHROOM1	134549	broad.mit.edu	37	5	132159717	132159717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:132159717C>T	ENST00000378679.3	-	7	2440	c.1636G>A	c.(1636-1638)Gtt>Att	p.V546I	SHROOM1_ENST00000378676.1_Missense_Mutation_p.V477I|SHROOM1_ENST00000319854.3_Missense_Mutation_p.V546I	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	546	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCTCCTGAACCAGCTCCTCG	0.597000													12	21					0	0	0.001855	0	0
CECR2	27443	broad.mit.edu	37	22	18028131	18028131	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:18028131C>T	ENST00000262608.8	+	16	3091	c.3091C>T	c.(3091-3093)Cta>Tta	p.L1031L	CECR2_ENST00000400585.2_Silent_p.L888L|CECR2_ENST00000400573.4_Silent_p.L1030L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1072					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CAGGGGCGCTCTATCCGAGAA	0.622000													8	26					0	0	0.004482	0	0
ZC3H13	23091	broad.mit.edu	37	13	46594614	46594614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:46594614C>T	ENST00000242848.4	-	5	766	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E140K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	140							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTACATTTTCTTCTTCACTT	0.338000													14	39					0	0	0.002450	0	0
ZNF99	7652	broad.mit.edu	37	19	22941862	22941862	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22941862T>A	ENST00000397104.3	-	5	575	c.576A>T	c.(574-576)aaA>aaT	p.K192N	ZNF99_ENST00000596209.1_Missense_Mutation_p.K283N					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTTATATGGTTTCTTCCCAG	0.358000													15	26					0	0	0.003163	0	0
NLRP8	126205	broad.mit.edu	37	19	56490764	56490764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56490764G>A	ENST00000291971.3	+	9	2952	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E942K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	961						cytoplasm	ATP binding	p.E961K(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACAGGCTGGAAAACTGCCT	0.512000													42	63					0	0	0.002852	0	0
CAPN11	11131	broad.mit.edu	37	6	44141111	44141111	+	Silent	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:44141111T>C	ENST00000398776.1	+	7	857	c.819T>C	c.(817-819)ggT>ggC	p.G273G	CAPN11_ENST00000542245.1_Silent_p.G273G	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	273	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCTCATGGgttgctccattg	0.592000													14	21					0	0	0.001855	0	0
SBSPON	157869	broad.mit.edu	37	8	74005100	74005100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:74005100C>T	ENST00000297354.6	-	1	407	c.203G>A	c.(202-204)aGg>aAg	p.R68K	SBSPON_ENST00000519697.1_Intron	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	68	SMB.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity										TGGGCACGCCCTGTCGTAGTC	0.687000													14	21					0	0	0.002450	0	0
PHACTR1	221692	broad.mit.edu	37	6	13228133	13228133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:13228133G>A	ENST00000379350.1	+	8	1201	c.1072G>A	c.(1072-1074)Ggc>Agc	p.G358S	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	358						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGGACCTATGGGCCTTCCAGA	0.483000													253	467					0	0	0.003610	0	0
INTS5	80789	broad.mit.edu	37	11	62415653	62415653	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:62415653G>A	ENST00000330574.2	-	2	1951	c.1899C>T	c.(1897-1899)ccC>ccT	p.P633P		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	633					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CAGAAGGAAAGGGACAAATGG	0.597000													12	43					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179629520	179629520	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179629520A>G	ENST00000589042.1	-	42	9946	c.9722T>C	c.(9721-9723)gTt>gCt	p.V3241A	TTN_ENST00000359218.5_Missense_Mutation_p.V3195A|TTN_ENST00000342175.6_Missense_Mutation_p.V3195A|TTN_ENST00000360870.5_Missense_Mutation_p.V3241A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V3241A|TTN_ENST00000342992.6_Missense_Mutation_p.V3241A|TTN_ENST00000460472.2_Missense_Mutation_p.V3195A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2971	Ig-like 19.						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)			CTCCTGCAGAACTTGGGGCGG	0.483000													43	51					0	0	0.003214	0	0
STAC2	342667	broad.mit.edu	37	17	37369809	37369809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:37369809G>A	ENST00000333461.5	-	9	1313	c.944C>T	c.(943-945)cCt>cTt	p.P315L		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	315	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCGATCTCCAGGCCTGGGGAG	0.622000													21	51					0	0	0.003330	0	0
TM7SF3	51768	broad.mit.edu	37	12	27152555	27152555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:27152555G>A	ENST00000343028.4	-	3	526	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	101						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCTGGTCTAAGGATGAAAACC	0.468000													27	44					0	0	0.004656	0	0
ETNPPL	64850	broad.mit.edu	37	4	109670491	109670491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:109670491C>T	ENST00000296486.3	-	8	984	c.830G>A	c.(829-831)gGa>gAa	p.G277E	ETNPPL_ENST00000411864.2_Missense_Mutation_p.G271E|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G237E|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G219E	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CATCGGTTTTCCCATTGTGAC	0.468000													40	85					0	0	0.007835	0	0
DKK2	27123	broad.mit.edu	37	4	107846989	107846989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:107846989C>T	ENST00000285311.3	-	2	1045	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	DKK2_ENST00000513208.1_Missense_Mutation_p.G14S|DKK2_ENST00000510463.1_Missense_Mutation_p.G68S	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	114	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CAGCACATGCCATCTCGGTGG	0.493000													69	116					0	0	0.003610	0	0
CASS4	57091	broad.mit.edu	37	20	55027537	55027537	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:55027537G>A	ENST00000371336.3	+	5	1506	c.1305G>A	c.(1303-1305)ttG>ttA	p.L435L	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Silent_p.L435L	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	435					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGCTCTCCTTGGACCTGGATG	0.572000													12	23					0	0	0.001368	0	0
ASCC3	10973	broad.mit.edu	37	6	101090562	101090562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:101090562G>A	ENST00000369162.2	-	24	4140	c.3796C>T	c.(3796-3798)Caa>Taa	p.Q1266*		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1266	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATGTAGTATTGGGAAGGCAAA	0.373000													31	48					0	0	0.008361	0	0
IFRD2	7866	broad.mit.edu	37	3	50329948	50329948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:50329948G>A	ENST00000336089.4	-	3	309	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	0							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGAGGCCTGAGCGCGCAGG	0.657000													11	23					0	0	0.002450	0	0
E2F7	144455	broad.mit.edu	37	12	77417955	77417955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:77417955G>A	ENST00000322886.7	-	13	2811	c.2576C>T	c.(2575-2577)cCa>cTa	p.P859L	E2F7_ENST00000416496.2_Silent_p.S717S	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	859					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGGGGTCACTGGAACTGGTGA	0.458000													9	31					0	0	0.008291	0	0
A2M	2	broad.mit.edu	37	12	9264799	9264799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:9264799G>A	ENST00000318602.7	-	4	746	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	147					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GAGACAACACGAAATTTCACT	0.393000													19	42					0	0	0.001523	0	0
UBR2	23304	broad.mit.edu	37	6	42643851	42643851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:42643851C>T	ENST00000372901.1	+	39	4567	c.4309C>T	c.(4309-4311)Ctt>Ttt	p.L1437F	UBR2_ENST00000372883.3_Intron|UBR2_ENST00000372899.1_Missense_Mutation_p.L1437F			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1437					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGGGATCAGCCTTGGCACTGG	0.468000													54	102					0	0	0.003610	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046567	42046567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:42046567G>A	ENST00000372584.1	-	3	4916	c.3902C>T	c.(3901-3903)tCa>tTa	p.S1301L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1301L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1301L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1301L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1301					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGAGGAGCTGATGTAGGTGC	0.617000													28	45					0	0	0.007291	0	0
BAGE2	85319	broad.mit.edu	37	21	11058213	11058213	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:11058213G>A	ENST00000470054.1	-	0	434									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGATGTGACTGAAATCCTGAA	0.408000													13	44					0	0	0.001855	0	0
CDH12	1010	broad.mit.edu	37	5	21802333	21802333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:21802333C>T	ENST00000382254.1	-	10	2285	c.1199G>A	c.(1198-1200)gGg>gAg	p.G400E	CDH12_ENST00000504376.2_Missense_Mutation_p.G400E|CDH12_ENST00000522262.1_Missense_Mutation_p.G360E|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	400	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AATGATGGTCCCTACCGGAGT	0.483000										HNSCC(59;0.17)			19	32					0	0	0.007413	0	0
SYN3	8224	broad.mit.edu	37	22	32909799	32909799	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:32909799G>A	ENST00000358763.2	-	14	1865	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Silent_p.S541S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	541	E.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGTTAGTCAGGGACTGAGATT	0.537000													23	59					0	0	0.004656	0	0
DNAH8	1769	broad.mit.edu	37	6	38802367	38802367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:38802367G>A	ENST00000359357.3	+	30	3918	c.3664G>A	c.(3664-3666)Gtt>Att	p.V1222I	DNAH8_ENST00000449981.2_Missense_Mutation_p.V1439I|DNAH8_ENST00000441566.1_Missense_Mutation_p.V1222I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGACCTATGGTTCCAAATAT	0.308000													33	58					0	0	0.006999	0	0
DNAH5	1767	broad.mit.edu	37	5	13721235	13721235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:13721235C>T	ENST00000265104.4	-	71	12257	c.12153G>A	c.(12151-12153)atG>atA	p.M4051I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4051	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTCTGAGCCCATAGACAGGA	0.498000									Kartagener syndrome				41	94					0	0	0.008740	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764713	140764713	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140764713C>T	ENST00000518325.1	+	1	2247	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGCTTTCCTGCAGACCT	0.607000													28	37					0	0	0.007291	0	0
RP11-287D1.3	0	broad.mit.edu	37	2	74590268	74590268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:74590268G>A	ENST00000451608.2	-	2	120	c.121C>T	c.(121-123)Cct>Tct	p.P41S	DCTN1_ENST00000394003.3_Missense_Mutation_p.P1121S|DCTN1_ENST00000409567.3_Missense_Mutation_p.P1103S|DCTN1_ENST00000361874.3_Missense_Mutation_p.P1128S|DCTN1_ENST00000409438.1_Missense_Mutation_p.P989S|DCTN1_ENST00000409868.1_Missense_Mutation_p.P1106S|DCTN1_ENST00000407639.2_Missense_Mutation_p.P994S|DCTN1_ENST00000409240.1_Missense_Mutation_p.P1086S																							ACATGCAGAGGGGGCAGGGAT	0.532000													10	35					0	0	0.008291	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134869	81134869	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:81134869G>A	ENST00000534142.1	-	0	1626				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCAAATCTACGATCTCCCCTT	0.493000													7	29					0	0	0.001984	0	0
DMBT1	1755	broad.mit.edu	37	10	124339103	124339103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124339103C>T	ENST00000368909.3	+	10	795	c.689C>T	c.(688-690)tCc>tTc	p.S230F	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S230F|DMBT1_ENST00000338354.3_Missense_Mutation_p.S230F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S230F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S230F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S230F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	230					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATCTGAATCCAGTTTGGCC	0.532000													80	285					0	0	0.003610	0	0
VEGFC	7424	broad.mit.edu	37	4	177648941	177648941	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:177648941G>A	ENST00000280193.2	-	3	958	c.543C>T	c.(541-543)ctC>ctT	p.L181L	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	181					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CCGTCTTGCTGAGGTAGCTCG	0.498000													32	52					0	0	0.002445	0	0
GJA8	2703	broad.mit.edu	37	1	147380929	147380929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:147380929G>A	ENST00000240986.4	+	2	900	c.847G>A	c.(847-849)Gag>Aag	p.E283K	GJA8_ENST00000369235.1_Missense_Mutation_p.E283K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	283					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCCCTTGACCGAGGTTGGGAT	0.547000													6	62					0	0	0.006214	0	0
TAF1L	138474	broad.mit.edu	37	9	32634687	32634687	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:32634687C>T	ENST00000242310.4	-	1	980	c.891G>A	c.(889-891)gtG>gtA	p.V297V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	297					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGAGCATTCCACCTCCTGGA	0.498000													27	33					0	0	0.005443	0	0
CYLC2	1539	broad.mit.edu	37	9	105763885	105763885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:105763885G>A	ENST00000374798.3	+	2	113	c.43G>A	c.(43-45)Gat>Aat	p.D15N	CYLC2_ENST00000487798.1_Missense_Mutation_p.D15N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	15					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGGGCCATATGATAATTACAT	0.264000													9	5					0	0	0.000978	0	0
TENM3	55714	broad.mit.edu	37	4	183714840	183714840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:183714840C>T	ENST00000511685.1	+	26	7138	c.7015C>T	c.(7015-7017)Cat>Tat	p.H2339Y	TENM3_ENST00000406950.2_Missense_Mutation_p.H2339Y					teneurin transmembrane protein 3																		AATTGGATTTCATGGTGGCCT	0.403000													45	64					0	0	0.003610	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233848	61233848	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61233848G>A	ENST00000382768.1	+	7	882	c.882G>A	c.(880-882)agG>agA	p.R294R	SERPINB12_ENST00000269491.1_Silent_p.R274R			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	274					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGCTTGAAAGGAAAATCACCT	0.463000													48	78					0	0	0.003610	0	0
OR2M3	127062	broad.mit.edu	37	1	248366378	248366378	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248366378G>A	ENST00000456743.1	+	1	47	c.9G>A	c.(7-9)agG>agA	p.R3R		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATGGCAAGGGAGAATTCGA	0.433000													70	129					0	0	0.003610	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34112119	34112119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:34112119C>T	ENST00000341394.4	+	14	1637	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.S483F|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.S483F|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.S402F|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.S483F	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	483					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCATCATCATCCCTTCCTGCT	0.413000													13	36					0	0	0.001368	0	0
DLL3	10683	broad.mit.edu	37	19	39991276	39991276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:39991276G>A	ENST00000205143.4	+	3	380	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	DLL3_ENST00000356433.5_Missense_Mutation_p.E125K	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	125					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.E125K(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTTCATCATCGAAACCTGGAG	0.537000													47	129					0	0	0.003610	0	0
CREBBP	1387	broad.mit.edu	37	16	3824617	3824617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:3824617G>A	ENST00000262367.5	-	12	3045	c.2236C>T	c.(2236-2238)Cca>Tca	p.P746S	CREBBP_ENST00000382070.3_Missense_Mutation_p.P708S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	746					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTTCATTGGGGAGGCTGCA	0.532000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						12	61					0	0	0.001368	0	0
ATXN2L	11273	broad.mit.edu	37	16	28842057	28842057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:28842057C>T	ENST00000336783.4	+	9	1323	c.1156C>T	c.(1156-1158)Cat>Tat	p.H386Y	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.H386Y|ATXN2L_ENST00000570200.1_Missense_Mutation_p.H386Y|ATXN2L_ENST00000395547.2_Missense_Mutation_p.H386Y|ATXN2L_ENST00000382686.4_Missense_Mutation_p.H386Y|ATXN2L_ENST00000340394.8_Missense_Mutation_p.H386Y|ATXN2L_ENST00000325215.6_Missense_Mutation_p.H386Y	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	386						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGCCCTCACCATCTGGACAA	0.627000													18	17					0	0	0.006122	0	0
CCS	9973	broad.mit.edu	37	11	66373037	66373037	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:66373037C>T	ENST00000533244.1	+	7	1086	c.645C>T	c.(643-645)tcC>tcT	p.S215S	CCS_ENST00000310190.4_Silent_p.S196S	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	215	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						ATCCCTTATCCAAGATCACAG	0.602000													38	46					0	0	0.003610	0	0
LIN28A	79727	broad.mit.edu	37	1	26751920	26751920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:26751920G>A	ENST00000326279.6	+	3	469	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	LIN28A_ENST00000254231.4_Missense_Mutation_p.G119R	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	119					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ATTCTGTATTGGGAGTGAGAG	0.512000													47	97					0	0	0.003610	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211351	50211351	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:50211351C>T	ENST00000002829.3	+	3	722	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	SEMA3F_ENST00000413852.1_Silent_p.L12L|SEMA3F_ENST00000434342.1_Silent_p.L80L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	80	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CGTGCTGTCCCTGGACCTGCA	0.607000													23	40					0	0	0.002299	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47221138	47221138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:47221138C>T	ENST00000296861.2	-	4	1756	c.1363G>A	c.(1363-1365)Gac>Aac	p.D455N		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	455	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CGCTCGTGGTCGGCTGTGTAC	0.597000													16	27					0	0	0.004990	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947399	33947399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:33947399C>T	ENST00000382102.3	-	6	1294	c.1237G>A	c.(1237-1239)Gga>Aga	p.G413R	SLC45A2_ENST00000342059.3_Missense_Mutation_p.G354R|SLC45A2_ENST00000296589.4_Missense_Mutation_p.G413R	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	413					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CCAATAAATCCCGTCCCCAGG	0.483000													45	111					0	0	0.003610	0	0
OXGR1	27199	broad.mit.edu	37	13	97639844	97639844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:97639844G>A	ENST00000298440.1	-	4	413	c.170C>T	c.(169-171)aCt>aTt	p.T57I	OXGR1_ENST00000543457.1_Missense_Mutation_p.T57I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	57						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GAAAATGTAAGTGGATATCAC	0.458000													16	12					0	0	0.004007	0	0
KCND3	3752	broad.mit.edu	37	1	112525046	112525046	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:112525046C>T	ENST00000369697.1	-	1	372	c.303G>A	c.(301-303)ggG>ggA	p.G101G	KCND3_ENST00000302127.4_Silent_p.G101G|KCND3_ENST00000315987.2_Silent_p.G101G			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	101						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGTGCAGCTTCCCCGTGCGGT	0.607000													25	16					0	0	0.006320	0	0
MYO5B	4645	broad.mit.edu	37	18	47566675	47566675	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:47566675A>T	ENST00000285039.7	-	3	447	c.148T>A	c.(148-150)Tac>Aac	p.Y50N		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	50	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAATTGGGTATTCCAGAATC	0.438000													96	139					0	0	0.003610	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512791	70512791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70512791G>A	ENST00000503640.1	-	1	627	c.572C>T	c.(571-573)tCc>tTc	p.S191F	UGT2A1_ENST00000514019.1_Missense_Mutation_p.S191F|UGT2A1_ENST00000286604.4_Missense_Mutation_p.S191F|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S191F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	191					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGGAACATAGGAAGGAGGGTA	0.408000													21	30					0	0	0.002299	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42128408	42128408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:42128408C>T	ENST00000382448.4	+	5	601	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	JMJD7_ENST00000397299.4_Missense_Mutation_p.H198Y|JMJD7-PLA2G4B_ENST00000542534.1_Missense_Mutation_p.H198Y|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.H198Y|JMJD7_ENST00000408047.1_Missense_Mutation_p.H99Y|JMJD7-PLA2G4B_ENST00000476036.1_3'UTR	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		0					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TTTCCTGTTCCATCCGCCCAG	0.617000													22	43					0	0	0.003330	0	0
PPFIA2	8499	broad.mit.edu	37	12	81751925	81751925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:81751925C>T	ENST00000550584.2	-	15	2004	c.1709G>A	c.(1708-1710)aGa>aAa	p.R570K	PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R570K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R570K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R496K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R137K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R471K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R552K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R570K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R417K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R552K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	496										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTTAGTTGTTCTGTAATCAGA	0.408000													4	13					0	0	0.000602	0	0
IRX6	79190	broad.mit.edu	37	16	55363128	55363128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:55363128C>T	ENST00000290552.7	+	5	2570	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	413						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTTGGAAACCCCAAGTTTGCC	0.617000													10	68					0	0	0.000978	0	0
TACR3	6870	broad.mit.edu	37	4	104640604	104640604	+	Nonsense_Mutation	SNP	G	G	A	rs149706734		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:104640604G>A	ENST00000304883.2	-	1	369	c.229C>T	c.(229-231)Cag>Tag	p.Q77*		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	77						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGCACGAACTGGTTGGTGAGG	0.637000													27	56					0	0	0.006320	0	0
PROKR2	128674	broad.mit.edu	37	20	5283145	5283145	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:5283145G>A	ENST00000546004.1	-	3	942	c.696C>T	c.(694-696)ttC>ttT	p.F232F	PROKR2_ENST00000217270.3_Silent_p.F232F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	232						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGGGCCCACGAACTCGACAC	0.557000										HNSCC(71;0.22)			35	73					0	0	0.004289	0	0
MKX	283078	broad.mit.edu	37	10	28023641	28023641	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28023641C>T	ENST00000375790.5	-	5	1014	c.582G>A	c.(580-582)gaG>gaA	p.E194E	MKX_ENST00000419761.1_Silent_p.E194E			Q8IYA7	MKX_HUMAN	mohawk homeobox	194					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TGACCGAATTCTCACTTTTAA	0.488000													15	74					0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9048771	9048771	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9048771A>G	ENST00000397910.4	-	5	33063	c.32860T>C	c.(32860-32862)Ttt>Ctt	p.F10954L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10956	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						CCAAGAGAAAAAGTCAGAATT	0.483000													10	84					0	0	0.008291	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182498	57182498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:57182498C>T	ENST00000504228.1	+	6	2935	c.2830C>T	c.(2830-2832)Ccg>Tcg	p.P944S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P944S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P937S			Q6ZU35	K1211_HUMAN	KIAA1211	944	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGCCAGACCCCGGCTCCGGA	0.652000													10	35					0	0	0.008291	0	0
OR56A4	120793	broad.mit.edu	37	11	6023726	6023726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6023726G>A	ENST00000330728.4	-	1	698	c.653C>T	c.(652-654)tCt>tTt	p.S218F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCCTGGCAGAAAGCATGGG	0.463000													18	17					0	0	0.007413	0	0
GPR115	221393	broad.mit.edu	37	6	47678598	47678598	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:47678598C>T	ENST00000283303.2	+	4	534	c.276C>T	c.(274-276)agC>agT	p.S92S	GPR115_ENST00000327753.3_Silent_p.S92S|GPR115_ENST00000371220.1_Silent_p.S149S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	92					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S92R(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CATGTACAAGCCTTTCTGTGG	0.393000													6	60					0	0	0.001984	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938244	116938244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:116938244C>T	ENST00000229554.5	+	1	595	c.458C>T	c.(457-459)tCt>tTt	p.S153F	RSPH4A_ENST00000368580.4_Missense_Mutation_p.S153F|RSPH4A_ENST00000368581.4_Missense_Mutation_p.S153F	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	153					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTTCAACAGTCTCAGCAACCC	0.458000									Kartagener syndrome				56	89					0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	41408905	41408905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:41408905G>A	ENST00000373198.3	-	4	756	c.521C>T	c.(520-522)cCt>cTt	p.P174L	PTPRT_ENST00000356100.2_Missense_Mutation_p.P174L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P174L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P174L|PTPRT_ENST00000373201.1_Missense_Mutation_p.P174L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P174L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P174L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	174	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GATGTAGCCAGGATGACCCTT	0.522000													27	61					0	0	0.008361	0	0
TEX15	56154	broad.mit.edu	37	8	30700975	30700975	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:30700975G>A	ENST00000256246.2	-	1	5633	c.5559C>T	c.(5557-5559)gaC>gaT	p.D1853D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1853										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCCACAGATGGTCCTGTTTTC	0.343000													43	66					0	0	0.002522	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671435	112671435	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:112671435C>T	ENST00000441065.2	+	3	837	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	175	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		ATGATTTATTCCCTGAGCATG	0.557000													48	55					0	0	0.003610	0	0
NRXN1	9378	broad.mit.edu	37	2	50724786	50724786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:50724786C>T	ENST00000404971.1	-	15	4023	c.2684G>A	c.(2683-2685)cGa>cAa	p.R895Q	NRXN1_ENST00000405472.3_Missense_Mutation_p.R847Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.R855Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.R847Q|NRXN1_ENST00000406859.3_Missense_Mutation_p.R855Q|NRXN1_ENST00000401669.2_Missense_Mutation_p.R855Q	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	855					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGATACCGTCGTTCTGTGAT	0.403000													14	41					0	0	0.003163	0	0
DPP10	57628	broad.mit.edu	37	2	116066836	116066836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:116066836C>T	ENST00000410059.1	+	2	562	c.82C>T	c.(82-84)Cca>Tca	p.P28S	DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.P21S|DPP10_ENST00000393147.2_Missense_Mutation_p.P32S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	28	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TAACAGCCCTCCACAGAGAAA	0.393000													9	29					0	0	0.000978	0	0
DPP6	1804	broad.mit.edu	37	7	154667731	154667731	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:154667731T>C	ENST00000404039.1	+	20	2394	c.1807T>C	c.(1807-1809)Ttc>Ctc	p.F603L	DPP6_ENST00000427557.1_Missense_Mutation_p.F560L|DPP6_ENST00000377770.3_Missense_Mutation_p.F667L|DPP6_ENST00000332007.3_Missense_Mutation_p.F605L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	667					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGGCAGCGGCTTCCAAGGGAC	0.657000													14	17					0	0	0.001855	0	0
SLC4A4	8671	broad.mit.edu	37	4	72400022	72400022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:72400022C>T	ENST00000340595.3	+	15	2423	c.2227C>T	c.(2227-2229)Ccg>Tcg	p.P743S	SLC4A4_ENST00000351898.6_Missense_Mutation_p.P787S|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P787S|SLC4A4_ENST00000264485.5_Missense_Mutation_p.P787S	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	787						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGCTGCTATCCCGGCTTTGTT	0.433000													6	53					0	0	0.001168	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396091	38396091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:38396091C>T	ENST00000377698.3	+	2	499	c.346C>T	c.(346-348)Cga>Tga	p.R116*		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	116					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGAGCGGGATCGAGTCTACTT	0.607000													21	70					0	0	0.002780	0	0
LRP1B	53353	broad.mit.edu	37	2	141806759	141806759	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:141806759T>C	ENST00000389484.3	-	11	2556	c.1585A>G	c.(1585-1587)Aaa>Gaa	p.K529E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	529					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGGCGTCCTTTCCCATAAAAG	0.403000										TSP Lung(27;0.18)			44	47					0	0	0.002222	0	0
CDH6	1004	broad.mit.edu	37	5	31322998	31322998	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:31322998C>T	ENST00000265071.2	+	12	2221	c.1956C>T	c.(1954-1956)atC>atT	p.I652I		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	652					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGAGGACATCAGAGATAACA	0.483000													27	41					0	0	0.006320	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466523	74466523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:74466523C>T	ENST00000394019.2	-	21	2655	c.2258G>A	c.(2257-2259)gGg>gAg	p.G753E	SLC4A5_ENST00000358683.4_Missense_Mutation_p.G689E|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G689E|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G753E|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G753E|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G753E|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G753E|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G753E	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	753						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGAGTATGTCCCAAAGAAAAG	0.527000													13	36					0	0	0.003163	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701654	56701654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56701654G>A	ENST00000586855.2	-	5	1343	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.P344S			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	344					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGCCATCTGGGTGACTGACC	0.547000													50	73					0	0	0.003610	0	0
SELP	6403	broad.mit.edu	37	1	169586609	169586609	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:169586609G>A	ENST00000263686.6	-	3	175	c.138C>T	c.(136-138)taC>taT	p.Y46Y	SELP_ENST00000367788.2_Silent_p.Y46Y|SELP_ENST00000367794.2_Silent_p.Y46Y|SELP_ENST00000367793.2_Silent_p.Y46Y|SELP_ENST00000367792.2_Silent_p.Y46Y|SELP_ENST00000367791.2_Silent_p.Y46Y|SELP_ENST00000458599.2_Silent_p.Y46Y|SELP_ENST00000367786.2_Silent_p.Y46Y	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	46					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CTTTTGTGCTGTAATGATAAG	0.418000													32	70					0	0	0.003755	0	0
LMOD1	25802	broad.mit.edu	37	1	201869571	201869571	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:201869571C>T	ENST00000367288.4	-	2	816	c.570G>A	c.(568-570)gaG>gaA	p.E190E		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	190	8 X approximate tandem repeats.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						tccctttcttctcctcttcct	0.537000													4	10					0	0	0.000248	0	0
TNXB	7148	broad.mit.edu	37	6	32052343	32052343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32052343C>T	ENST00000375244.3	-	8	3493	c.3292G>A	c.(3292-3294)Gac>Aac	p.D1098N	TNXB_ENST00000375247.2_Missense_Mutation_p.D1098N			P22105	TENX_HUMAN	tenascin XB	1185	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTCCCTGTCTTTGTACTGG	0.627000													238	414					0	0	0.003610	0	0
OVCA2	124641	broad.mit.edu	37	17	1945386	1945386	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:1945386C>T	ENST00000572195.1	+	1	60	c.45C>T	c.(43-45)ttC>ttT	p.F15F	DPH1_ENST00000263083.6_Intron|DPH1_ENST00000570477.1_Intron	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	15					response to retinoic acid	cytoplasm	hydrolase activity										TGGCGGGCTTCCGGCAGAGCG	0.731000											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	4					0	0	0.001984	0	0
ZNF174	7727	broad.mit.edu	37	16	3458558	3458558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:3458558C>T	ENST00000268655.4	+	3	1448	c.863C>T	c.(862-864)cCc>cTc	p.P288L	LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000571936.1_Missense_Mutation_p.P288L	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	288					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						ATCAGCAGCCCCCTAAAAAGC	0.522000													21	50					0	0	0.001882	0	0
HMSD	284293	broad.mit.edu	37	18	61620722	61620722	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61620722C>T	ENST00000408945.3	+	2	235	c.33C>T	c.(31-33)ttC>ttT	p.F11F	HMSD_ENST00000481726.1_Intron	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	11						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						CCATGGTTTTCATGGGGGCAA	0.413000													12	11					0	0	0.002450	0	0
CFH	3075	broad.mit.edu	37	1	196695904	196695904	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:196695904C>T	ENST00000367429.4	+	14	2310	c.2070C>T	c.(2068-2070)acC>acT	p.T690T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	690	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGGAGAGTACCTGTGGAGATA	0.338000													19	38					0	0	0.001523	0	0
ANO1	55107	broad.mit.edu	37	11	69972234	69972234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:69972234C>T	ENST00000355303.5	+	10	1335	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S	ANO1_ENST00000530676.1_Missense_Mutation_p.P228S|ANO1_ENST00000398543.2_Missense_Mutation_p.P228S|ANO1_ENST00000316296.5_Missense_Mutation_p.P316S|ANO1_ENST00000531349.1_Missense_Mutation_p.P79S|ANO1_ENST00000538023.1_Missense_Mutation_p.P344S	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	344					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GATGCTCATCCCTGCCTCCAT	0.592000													47	34					0	0	0.003610	0	0
NBEA	26960	broad.mit.edu	37	13	35517126	35517126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:35517126C>T	ENST00000400445.3	+	1	703	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	NBEA_ENST00000379939.2_Missense_Mutation_p.P57S|NBEA_ENST00000540320.1_Missense_Mutation_p.P57S|NBEA_ENST00000310336.4_Missense_Mutation_p.P57S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	57						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGTGATGCTCCCCGCGGGGAT	0.677000													19	42					0	0	0.006122	0	0
SYS1	90196	broad.mit.edu	37	20	43995745	43995745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:43995745C>T	ENST00000243918.5	+	4	752	c.461C>T	c.(460-462)tCc>tTc	p.S154F	SYS1_ENST00000426004.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000414310.1_Missense_Mutation_p.S133F|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000372727.1_Missense_Mutation_p.S154F	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)	154					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GCCCCTAAATCCAATGTCTAG	0.567000													26	57					0	0	0.005443	0	0
OR4D9	390199	broad.mit.edu	37	11	59283314	59283314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:59283314G>A	ENST00000329328.3	+	1	929	c.929G>A	c.(928-930)aGg>aAg	p.R310K		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CAATCAGAAAGGATTTTAATT	0.378000													10	27					0	0	0.008291	0	0
SLAIN2	57606	broad.mit.edu	37	4	48381736	48381736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:48381736C>T	ENST00000264313.6	+	4	1151	c.733C>T	c.(733-735)Cca>Tca	p.P245S	SLAIN2_ENST00000512093.1_Missense_Mutation_p.P52S|SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	245						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CAGAAATCCTCCACTCAGTCC	0.323000													26	56					0	0	0.003954	0	0
MS4A7	58475	broad.mit.edu	37	11	60150751	60150751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:60150751C>T	ENST00000358246.1	+	2	330	c.137C>T	c.(136-138)aCc>aTc	p.T46I	MS4A7_ENST00000300184.3_Missense_Mutation_p.T46I|MS4A7_ENST00000530234.2_Missense_Mutation_p.T46I|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.T46I	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	46						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ACAGAAACCACCGTTCTTGGG	0.438000													27	37					0	0	0.007291	0	0
FAM117B	150864	broad.mit.edu	37	2	203560658	203560658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:203560658C>T	ENST00000392238.2	+	2	656	c.656C>T	c.(655-657)tCc>tTc	p.S219F	FAM117B_ENST00000303116.6_5'UTR			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	219										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CGACGCACTTCCTCCCTGGAT	0.468000													126	135					0	0	0.003610	0	0
GPR4	2828	broad.mit.edu	37	19	46094627	46094627	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:46094627G>A	ENST00000323040.4	-	2	1442	c.498C>T	c.(496-498)acC>acT	p.T166T	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	166						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CAAAGCAGAAGGTGTGGTTGT	0.637000													39	91					0	0	0.003214	0	0
GABRB2	2561	broad.mit.edu	37	5	160838060	160838060	+	Silent	SNP	G	G	A	rs148320584		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:160838060G>A	ENST00000274547.2	-	6	679	c.462C>T	c.(460-462)atC>atT	p.I154I	GABRB2_ENST00000353437.6_Silent_p.I154I|GABRB2_ENST00000517547.1_5'UTR|GABRB2_ENST00000520240.1_Silent_p.I154I|GABRB2_ENST00000517901.1_Silent_p.I91I|GABRB2_ENST00000393959.1_Silent_p.I154I	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	154					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTGTGGTTGTGATTCTAGAAG	0.428000													39	37					0	0	0.002222	0	0
ALG1L	200810	broad.mit.edu	37	3	125648252	125648252	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:125648252C>T	ENST00000340333.3	-	6	670	c.507G>A	c.(505-507)cgG>cgA	p.R169R	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	169							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						AGCAGGGGTCCCGGGGTTTTA	0.597000													17	14					0	0	0.001882	0	0
PTPRB	5787	broad.mit.edu	37	12	70956662	70956662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:70956662C>T	ENST00000334414.6	-	16	4174	c.4130G>A	c.(4129-4131)gGg>gAg	p.G1377E	PTPRB_ENST00000538708.1_Missense_Mutation_p.G1069E|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1069E|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1069E|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1159E|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1376E|PTPRB_ENST00000550358.1_Missense_Mutation_p.G1289E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1159	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGACAGCTCCCCACTGTGAGT	0.463000													28	60					0	0	0.007291	0	0
FAM135B	51059	broad.mit.edu	37	8	139255192	139255192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:139255192G>A	ENST00000395297.1	-	7	832	c.662C>T	c.(661-663)tCc>tTc	p.S221F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	221										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACCTCTGAGGAAGTCGGCTT	0.473000										HNSCC(54;0.14)			19	63					0	0	0.003954	0	0
HRNR	388697	broad.mit.edu	37	1	152185557	152185557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:152185557G>A	ENST00000368801.2	-	3	8623	c.8548C>T	c.(8548-8550)Cag>Tag	p.Q2850*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2850					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTATTCACTGATAAAAGTAG	0.348000													23	25					0	0	0.001882	0	0
SATB2	23314	broad.mit.edu	37	2	200137114	200137114	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:200137114C>T	ENST00000443023.1	-	10	3310	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	SATB2_ENST00000260926.5_Silent_p.G674G|SATB2_ENST00000428695.1_Silent_p.G556G|SATB2_ENST00000457245.1_Silent_p.G674G|SATB2_ENST00000417098.1_Silent_p.G674G			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	674						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTTCAGCTTCCCGTGGTGCT	0.577000													65	51					0	0	0.003610	0	0
LAMA5	3911	broad.mit.edu	37	20	60903975	60903975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:60903975G>A	ENST00000252999.3	-	34	4438	c.4372C>T	c.(4372-4374)Ccc>Tcc	p.P1458S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1458	Laminin EGF-like 12.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCATGGCAGGGACACTGGCCC	0.637000													29	48					0	0	0.008361	0	0
ADAM19	8728	broad.mit.edu	37	5	156908821	156908821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:156908821G>A	ENST00000257527.4	-	22	2759	c.2681C>T	c.(2680-2682)cCt>cTt	p.P894L	ADAM19_ENST00000394020.1_Missense_Mutation_p.P896L|ADAM19_ENST00000517905.1_Missense_Mutation_p.P894L|ADAM19_ENST00000430702.2_Intron	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	894					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTGCCAGAGGCCGGGACTG	0.662000													5	3					0	0	0.001168	0	0
ZNF778	197320	broad.mit.edu	37	16	89293871	89293871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:89293871C>T	ENST00000433976.2	+	6	1423	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	ZNF778_ENST00000306502.6_Missense_Mutation_p.P322L|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGGGAGAAGCCCTTTGCATGT	0.433000													50	57					0	0	0.003610	0	0
CPS1	1373	broad.mit.edu	37	2	211471586	211471586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:211471586C>T	ENST00000233072.5	+	18	2309	c.2113C>T	c.(2113-2115)Cct>Tct	p.P705S	CPS1_ENST00000451903.2_Missense_Mutation_p.P254S|CPS1_ENST00000430249.2_Missense_Mutation_p.P711S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	705	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGCCCTTCATCCTACCTCAAT	0.468000													8	43					0	0	0.003080	0	0
MUC17	140453	broad.mit.edu	37	7	100679768	100679768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100679768C>T	ENST00000306151.4	+	3	5135	c.5071C>T	c.(5071-5073)Cct>Tct	p.P1691S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1691	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAAGAACTCCTTTAACAAG	0.478000													85	152					0	0	0.003610	0	0
PAQR5	54852	broad.mit.edu	37	15	69692348	69692348	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:69692348A>G	ENST00000340965.3	+	8	1313	c.645A>G	c.(643-645)gaA>gaG	p.E215E	PAQR5_ENST00000395407.2_Silent_p.E215E|RP11-253M7.1_ENST00000558617.1_RNA|PAQR5_ENST00000561153.1_Silent_p.E215E|RP11-253M7.1_ENST00000560539.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	215					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CACAAAATGAAGCCACCTCGT	0.532000													32	69					0	0	0.003271	0	0
SCAF11	9169	broad.mit.edu	37	12	46320946	46320946	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:46320946G>A	ENST00000465950.1	-	1	2802	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	SCAF11_ENST00000369367.3_Silent_p.S846S|SCAF11_ENST00000419565.2_Silent_p.S846S|SCAF11_ENST00000549162.1_Silent_p.S654S			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	846					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACTGAGAACGGGATTTTTTCC	0.473000													50	122					0	0	0.003610	0	0
DCLK3	85443	broad.mit.edu	37	3	36780021	36780021	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:36780021A>G	ENST00000416516.2	-	2	620	c.130T>C	c.(130-132)Ttt>Ctt	p.F44L		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	44						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCTTGCTAAACAGCCTGCTC	0.612000													35	72					0	0	0.003755	0	0
GGT7	2686	broad.mit.edu	37	20	33442403	33442403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:33442403G>A	ENST00000336431.5	-	10	1294	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	417					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCTGGCCAGGGCTAATGCAAT	0.552000													9	15					0	0	0.004482	0	0
ABCC12	94160	broad.mit.edu	37	16	48119552	48119552	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:48119552C>T	ENST00000311303.3	-	27	4125	c.3780G>A	c.(3778-3780)ggG>ggA	p.G1260G	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1260	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTGACGTTCCCCTACTGAGA	0.413000													37	45					0	0	0.006230	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756910	56756910	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56756910C>T	ENST00000326855.2	+	1	564	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CCAATAGCATCAATCACTTTT	0.413000													82	97					0	0	0.003610	0	0
MEGF8	1954	broad.mit.edu	37	19	42880019	42880019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:42880019C>T	ENST00000334370.4	+	41	8064	c.7429C>T	c.(7429-7431)Cgg>Tgg	p.R2477W	MEGF8_ENST00000251268.6_Missense_Mutation_p.R2544W|MEGF8_ENST00000378073.4_Missense_Mutation_p.R138W	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2544						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGTGGGCCCCGGGGGGCTGG	0.701000													12	10					0	0	0.001368	0	0
PASK	23178	broad.mit.edu	37	2	242072304	242072304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:242072304G>A	ENST00000403638.3	-	9	1539	c.1448C>T	c.(1447-1449)cCt>cTt	p.P483L	PASK_ENST00000544142.1_Missense_Mutation_p.P297L|PASK_ENST00000358649.4_Missense_Mutation_p.P483L|PASK_ENST00000405260.1_Missense_Mutation_p.P483L|PASK_ENST00000234040.4_Missense_Mutation_p.P483L|PASK_ENST00000539818.1_Missense_Mutation_p.P267L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	483					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGCAGGCTGAGGTGAGAGGCA	0.527000													11	36					0	0	0.000978	0	0
ZNF595	152687	broad.mit.edu	37	4	59432	59432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:59432G>A	ENST00000509152.2	+	2	298	c.113G>A	c.(112-114)aGg>aAg	p.R38K	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.R38K					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GAGAACTACAGGAACCTGGTC	0.438000													37	481					0	0	0.002852	0	0
CHIAP2	149620	broad.mit.edu	37	1	111825603	111825603	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:111825603G>A	ENST00000369743.4	+	0	1148					NR_003928.1																						TCCTGTACAGGAAATGCGTGA	0.448000													3	1					0	0	0.004672	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74913986	74913986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:74913986C>T	ENST00000289575.5	+	12	2199	c.1804C>T	c.(1804-1806)Cag>Tag	p.Q602*	SLCO2B1_ENST00000531756.1_Nonsense_Mutation_p.Q347*|SLCO2B1_ENST00000532236.1_Nonsense_Mutation_p.Q486*|SLCO2B1_ENST00000341411.4_Nonsense_Mutation_p.Q375*|SLCO2B1_ENST00000525650.1_Nonsense_Mutation_p.Q458*|SLCO2B1_ENST00000428359.2_Nonsense_Mutation_p.Q580*|SLCO2B1_ENST00000454962.2_Nonsense_Mutation_p.Q375*	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	602					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TGTGGGCATCCAGTTCATGTT	0.547000													48	49					0	0	0.003610	0	0
MAP4	4134	broad.mit.edu	37	3	47917353	47917353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:47917353G>A	ENST00000426837.2	-	12	5666	c.5579C>T	c.(5578-5580)tCg>tTg	p.S1860L	MAP4_ENST00000383737.4_Missense_Mutation_p.S443L|MAP4_ENST00000395734.3_Missense_Mutation_p.S715L|MAP4_ENST00000360240.6_Missense_Mutation_p.S715L|MAP4_ENST00000462206.1_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.S450L|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000420772.2_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	715					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TTTGGCTTTCGATGTTGAAGT	0.423000													64	173					0	0	0.003610	0	0
CDCP2	200008	broad.mit.edu	37	1	54605546	54605546	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:54605546C>A	ENST00000371330.1	-	4	1844	c.997G>T	c.(997-999)Ggg>Tgg	p.G333W		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	333	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CACCAATTCCCCAGCAGGGGT	0.637000													20	24					8.00594e-06	8.85354e-06	0.007413	1	0
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	G	A	rs141478890		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:15791299G>A	ENST00000550308.1	+	5	875	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_ENST00000324632.9_Silent_p.T165T	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.T165T(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTATATAACGATCTTCAACA	0.537000													18	15					0	0	0.001882	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911331	230911331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:230911331C>T	ENST00000295190.4	-	4	969	c.511G>A	c.(511-513)Ggt>Agt	p.G171S		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	171						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AGGAACGTACCGAATCCGGTC	0.597000													29	38					0	0	0.003271	0	0
TNNT3	7140	broad.mit.edu	37	11	1950358	1950358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:1950358G>A	ENST00000278317.6	+	7	310	c.91G>A	c.(91-93)Gag>Aag	p.E31K	TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000397301.1_Missense_Mutation_p.E42K|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381548.3_Missense_Mutation_p.E33K|TNNT3_ENST00000446240.1_Intron	NM_006757.3	NP_006748.1	P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	42					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGACACCGCAGAGGAGGACGC	0.662000													43	70					0	0	0.003610	0	0
SLC15A3	51296	broad.mit.edu	37	11	60714282	60714282	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:60714282G>A	ENST00000227880.3	-	2	803	c.570C>T	c.(568-570)ctC>ctT	p.L190L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	190					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CGTCGCGGCCGAGATCCATCA	0.587000													51	59					0	0	0.003610	0	0
ANKS6	203286	broad.mit.edu	37	9	101542503	101542503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:101542503G>A	ENST00000353234.4	-	6	1383	c.1336C>T	c.(1336-1338)Cca>Tca	p.P446S	ANKS6_ENST00000375018.1_Missense_Mutation_p.P446S|ANKS6_ENST00000540940.1_Missense_Mutation_p.P251S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P145S			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	446										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGCAGCACTGGGATGCTCCAG	0.622000													20	18					0	0	0.003330	0	0
ZW10	9183	broad.mit.edu	37	11	113631062	113631062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:113631062G>A	ENST00000200135.3	-	5	593	c.449C>T	c.(448-450)tCc>tTc	p.S150F		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	150	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GCATTTTCTGGATTTTAATAA	0.353000													32	21					0	0	0.002836	0	0
ATP10B	23120	broad.mit.edu	37	5	160063273	160063273	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:160063273G>A	ENST00000327245.5	-	11	1890	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	348					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGCACATCGAAGGGAGGGT	0.522000													30	37					0	0	0.008361	0	0
ERBB4	2066	broad.mit.edu	37	2	212537981	212537981	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:212537981C>T	ENST00000342788.4	-	14	1934	c.1622_splice	c.e14-1	p.E542_splice	ERBB4_ENST00000402597.1_Splice_Site_p.E542_splice|ERBB4_ENST00000436443.1_Splice_Site_p.E542_splice	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	542	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E542K(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCCCGAAATTCACTGTGAAAA	0.463000										TSP Lung(8;0.080)			13	42					0	0	0.001855	0	0
UBFD1	56061	broad.mit.edu	37	16	23581893	23581893	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:23581893G>A	ENST00000395878.3	+	7	1293	c.912G>A	c.(910-912)ggG>ggA	p.G304G	UBFD1_ENST00000567212.1_Silent_p.G295G|UBFD1_ENST00000219638.4_Silent_p.G528G	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	304										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		CTGTGCTGGGGAAATGGCAGT	0.522000													15	78					0	0	0.006122	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23069692	23069692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:23069692G>A	ENST00000221132.3	-	2	404	c.340C>T	c.(340-342)Cat>Tat	p.H114Y		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	114					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GATTGATCATGAAGTTTGATG	0.473000													14	86					0	0	0.002450	0	0
ZNF880	400713	broad.mit.edu	37	19	52887533	52887533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52887533C>T	ENST00000422689.2	+	4	715	c.700C>T	c.(700-702)Cat>Tat	p.H234Y		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	234					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TCAAAGAATTCATACTGGAGA	0.388000													8	11					0	0	0.006214	0	0
NTF3	4908	broad.mit.edu	37	12	5603651	5603651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:5603651G>A	ENST00000423158.3	+	2	522	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.E91K	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	91					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AATGGACACCGAACTGCTGCG	0.617000													29	50					0	0	0.001786	0	0
MYH1	4619	broad.mit.edu	37	17	10408589	10408589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10408589G>A	ENST00000226207.5	-	21	2420	c.2326C>T	c.(2326-2328)Ctc>Ttc	p.L776F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	776	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCTAGGAGCCCCAGAAGA	0.473000													31	26					0	0	0.002445	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189611	167189611	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:167189611G>A	ENST00000476257.1	-	3	310	c.12C>T	c.(10-12)atC>atT	p.I4I	SERPINI2_ENST00000461846.1_Silent_p.I4I|SERPINI2_ENST00000264677.4_Silent_p.I4I|SERPINI2_ENST00000471111.1_Silent_p.I4I|SERPINI2_ENST00000465031.1_5'UTR			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	4					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TCCACAAGAAGATTGTGTCCA	0.343000													55	88					0	0	0.003610	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113611	117113611	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:117113611G>A	ENST00000310357.3	-	6	2496	c.2475C>T	c.(2473-2475)atC>atT	p.I825I	GPRC6A_ENST00000530250.1_Silent_p.I650I|GPRC6A_ENST00000368549.3_Silent_p.I754I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	825					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)		TGCAATACAGGATTCCATAGT	0.358000													19	37					0	0	0.006122	0	0
PLCG2	5336	broad.mit.edu	37	16	81971475	81971475	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:81971475C>T	ENST00000359376.3	+	28	3379	c.3165C>T	c.(3163-3165)tcC>tcT	p.S1055S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1055					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CACCCGAGTCCCAGAGGAAGA	0.592000													20	25					0	0	0.008871	0	0
HSPB1	3315	broad.mit.edu	37	7	75933416	75933416	+	Missense_Mutation	SNP	C	C	T	rs104894020		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:75933416C>T	ENST00000248553.6	+	3	713	c.544C>T	c.(544-546)Cca>Tca	p.P182S	HSPB1_ENST00000429938.1_Missense_Mutation_p.P14S	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	182	Interaction with TGFB1I1 (By similarity).		P -> L (in HMN2B).		anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding			large_intestine(1)|lung(3)	4						GATCACCATCCCAGTCACCTT	0.637000													5	12					0	0	0.003080	0	0
VWF	7450	broad.mit.edu	37	12	6062751	6062751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:6062751C>T	ENST00000261405.5	-	48	8151	c.7897G>A	c.(7897-7899)Gaa>Aaa	p.E2633K		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2633	VWFC 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTATTTTCTTCCTTGTAACCC	0.463000													31	77					0	0	0.002836	0	0
CLPTM1	1209	broad.mit.edu	37	19	45490560	45490560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:45490560C>T	ENST00000541297.2	+	8	1340	c.875C>T	c.(874-876)tCc>tTc	p.S292F	CLPTM1_ENST00000546079.1_Missense_Mutation_p.S204F|CLPTM1_ENST00000337392.5_Missense_Mutation_p.S306F|CLPTM1_ENST00000589158.1_3'UTR			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	306					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTCCGCGTCTCCTTCTGCCCA	0.567000													69	335					0	0	0.003610	0	0
KLHL1	57626	broad.mit.edu	37	13	70535554	70535554	+	Missense_Mutation	SNP	C	C	T	rs112767369		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:70535554C>T	ENST00000377844.4	-	3	1462	c.703G>A	c.(703-705)Gac>Aac	p.D235N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D42N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	235	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCAAAATAGTCGGAGACTGAA	0.448000													5	33					0	0	0.000602	0	0
DNAH7	56171	broad.mit.edu	37	2	196749452	196749452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:196749452G>A	ENST00000312428.6	-	35	5720	c.5620C>T	c.(5620-5622)Cga>Tga	p.R1874*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1874					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTAGTTCTCGAAGAATCTTA	0.383000													11	44					0	0	0.008291	0	0
MPP7	143098	broad.mit.edu	37	10	28378648	28378648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28378648G>A	ENST00000337532.5	-	13	1351	c.1075C>T	c.(1075-1077)Ccg>Tcg	p.P359S	MPP7_ENST00000445954.2_Missense_Mutation_p.P234S|MPP7_ENST00000540098.1_Missense_Mutation_p.P359S|MPP7_ENST00000375719.3_Missense_Mutation_p.P359S|MPP7_ENST00000375732.1_Missense_Mutation_p.P359S	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	359					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CGCCGATACGGTGTCACTTCT	0.388000													61	57					0	0	0.003610	0	0
OR8D2	283160	broad.mit.edu	37	11	124189932	124189932	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:124189932T>A	ENST00000357438.2	-	1	252	c.162A>T	c.(160-162)caA>caT	p.Q54H		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GAGGGTAAAGTTGAGAACTGA	0.438000													34	21					0	0	0.002096	0	0
C15orf39	56905	broad.mit.edu	37	15	75500890	75500890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:75500890C>T	ENST00000360639.2	+	2	2821	c.2501C>T	c.(2500-2502)cCc>cTc	p.P834L	C15orf39_ENST00000567617.1_Missense_Mutation_p.P834L|C15orf39_ENST00000394987.4_Missense_Mutation_p.P834L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	834										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TGCCCCTTCCCCCATGTGGTG	0.672000													3	9					0	0	0.004672	0	0
BAI1	575	broad.mit.edu	37	8	143562968	143562968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:143562968G>A	ENST00000517894.1	+	11	2920	c.2026G>A	c.(2026-2028)Ggg>Agg	p.G676R	BAI1_ENST00000323289.5_Missense_Mutation_p.G676R			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	676					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCTCAGGACGGGACCAGCTA	0.627000													6	10					0	0	0.001984	0	0
PRSS58	136541	broad.mit.edu	37	7	141955085	141955085	+	Missense_Mutation	SNP	C	C	T	rs147205406		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141955085C>T	ENST00000552471.1	-	3	545	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	PRSS58_ENST00000547058.2_Missense_Mutation_p.E76K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	76	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGATGCTTTTCATTAGAGTCT	0.408000													34	68					0	0	0.002836	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364349	23364349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:23364349C>T	ENST00000343070.2	+	3	715	c.539C>T	c.(538-540)tCa>tTa	p.S180L	SCNN1B_ENST00000307331.5_Missense_Mutation_p.S225L|SCNN1B_ENST00000568923.1_Missense_Mutation_p.S180L|SCNN1B_ENST00000568085.1_Missense_Mutation_p.S180L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	180					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGCTCAGCATCAGAAAAGATC	0.522000													22	75					0	0	0.003330	0	0
FBXL5	26234	broad.mit.edu	37	4	15607372	15607372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:15607372G>A	ENST00000341285.3	-	11	2174	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	FBXL5_ENST00000382358.4_Nonsense_Mutation_p.R558*|FBXL5_ENST00000412094.2_Nonsense_Mutation_p.R667*	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	684					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CAGCAGGCTCGAAAACCACAC	0.443000													15	38					0	0	0.004990	0	0
ATP7B	540	broad.mit.edu	37	13	52548297	52548297	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:52548297C>T	ENST00000242839.4	-	2	1215	c.1059G>A	c.(1057-1059)caG>caA	p.Q353Q	ATP7B_ENST00000448424.2_Silent_p.Q353Q|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.Q353Q|ATP7B_ENST00000344297.5_Silent_p.Q353Q|ATP7B_ENST00000542656.1_Silent_p.Q321Q|ATP7B_ENST00000400370.3_Silent_p.Q353Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	353					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGCCCTGGACCTGGTTTCTCG	0.537000									Wilson disease				45	73					0	0	0.003610	0	0
FRY	10129	broad.mit.edu	37	13	32721429	32721429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:32721429C>T	ENST00000380250.3	+	12	1686	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AACAAAGATCCCAAGATGGCT	0.413000													13	17					0	0	0.001855	0	0
DSC1	1823	broad.mit.edu	37	18	28711619	28711619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:28711619C>T	ENST00000257197.3	-	15	2686	c.2425G>A	c.(2425-2427)Gga>Aga	p.G809R	RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.G809R|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	809					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAGTATCTCCCTGCCCCACT	0.498000													31	96					0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	9073701	9073701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9073701G>A	ENST00000397910.4	-	3	13948	c.13745C>T	c.(13744-13746)tCa>tTa	p.S4582L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4584	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S4582L(2)|p.S4582*(2)|p.S215*(1)|p.S215L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCAGGTATTGATATAGAAGC	0.517000													19	44					0	0	0.001882	0	0
IRX1	79192	broad.mit.edu	37	5	3599663	3599663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:3599663G>A	ENST00000302006.3	+	2	653	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGGACCAGGAAGATGGAGC	0.622000													19	43					0	0	0.006122	0	0
PDE6C	5146	broad.mit.edu	37	10	95400746	95400746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:95400746G>A	ENST00000371447.3	+	14	1945	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	603					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTTCTGCCATGATATTGACCA	0.383000													22	27					0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	8993443	8993443	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:8993443C>T	ENST00000397910.4	-	66	41849	c.41646G>A	c.(41644-41646)ctG>ctA	p.L13882L	MUC16_ENST00000380951.5_Silent_p.L523L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13885	SEA 12.			Missing (in Ref. 3; AAK74120).	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						TCAGCTGGCTCAGCTCCAAAT	0.592000													46	64					0	0	0.003610	0	0
DGKH	160851	broad.mit.edu	37	13	42763384	42763384	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:42763384C>T	ENST00000379274.2	+	15	1872	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	DGKH_ENST00000538674.1_Silent_p.I372I|DGKH_ENST00000261491.4_Silent_p.I617I|DGKH_ENST00000540693.1_Silent_p.I617I|DGKH_ENST00000337343.4_Silent_p.I617I|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Silent_p.I481I			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	617					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CAAGGGAAATCATGTTGCGGG	0.458000													18	36					0	0	0.004990	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762201	37762201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:37762201C>T	ENST00000302584.4	-	2	872	c.652G>A	c.(652-654)Gag>Aag	p.E218K		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	218					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			GCGCCTTGCTCCGTGAGGAAG	0.682000													15	24					0	0	0.004990	0	0
GRPEL2	134266	broad.mit.edu	37	5	148727972	148727972	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:148727972A>T	ENST00000329271.3	+	2	325	c.215A>T	c.(214-216)gAa>gTa	p.E72V	GRPEL2_ENST00000513661.1_Missense_Mutation_p.E72V|RP11-394O4.4_ENST00000521295.1_RNA|GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_Missense_Mutation_p.E72V	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	72					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGAAAGAAGTCCAAGAT	0.398000													26	24					0	0	0.003954	0	0
CXCL5	6374	broad.mit.edu	37	4	74863790	74863790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:74863790C>T	ENST00000296027.4	-	3	462	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	89					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	p.E89K(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AGACAAATTTCCTTCCCGTTC	0.423000													44	79					0	0	0.003610	0	0
ARMC4	55130	broad.mit.edu	37	10	28273212	28273212	+	Missense_Mutation	SNP	T	T	C	rs138425193	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28273212T>C	ENST00000305242.5	-	5	675	c.583A>G	c.(583-585)Agt>Ggt	p.S195G	ARMC4_ENST00000239715.3_Missense_Mutation_p.S52G	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	195							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGACTTAAACTTATTTCTCTG	0.328000													28	74					0	0	0.008361	0	0
FLNC	2318	broad.mit.edu	37	7	128480922	128480922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:128480922G>A	ENST00000325888.8	+	11	1972	c.1711G>A	c.(1711-1713)Gtg>Atg	p.V571M	FLNC_ENST00000346177.6_Missense_Mutation_p.V571M	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	571					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAGGCAGGAGTGCAAAAGGT	0.622000													9	33					0	0	0.006214	0	0
PICK1	9463	broad.mit.edu	37	22	38468555	38468555	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:38468555T>C	ENST00000404072.3	+	9	975	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Missense_Mutation_p.F210L	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	210	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TTTTGTGAAGTTCGCCGATGC	0.587000													41	63					0	0	0.007835	0	0
KCNH7	90134	broad.mit.edu	37	2	163374419	163374419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:163374419G>A	ENST00000332142.5	-	4	812	c.713C>T	c.(712-714)tCc>tTc	p.S238F	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.S238F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	238					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTGGGAGAGGAATGGTCAAG	0.488000													15	71					0	0	0.003163	0	0
MICAL2	9645	broad.mit.edu	37	11	12270770	12270770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:12270770C>T	ENST00000256194.4	+	22	3112	c.2824C>T	c.(2824-2826)Cat>Tat	p.H942Y	MICAL2_ENST00000342902.5_Intron|MICAL2_ENST00000527546.1_Missense_Mutation_p.H752Y|MICAL2_ENST00000379612.3_Missense_Mutation_p.H752Y|MICAL2_ENST00000537344.1_Missense_Mutation_p.H752Y	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	942						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		tcatcccagccatttgagaac	0.473000													21	25					0	0	0.001882	0	0
RP1L1	94137	broad.mit.edu	37	8	10469043	10469043	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:10469043G>A	ENST00000382483.3	-	4	2788	c.2565C>T	c.(2563-2565)acC>acT	p.T855T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	855					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCTGGGCGGGGTGGGACAGT	0.731000													11	11					0	0	0.000978	0	0
TMEM43	79188	broad.mit.edu	37	3	14175299	14175299	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:14175299C>T	ENST00000306077.4	+	7	827	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	191						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						GCAGGTTTTTCCTCTCGTCAG	0.587000													60	94					0	0	0.003610	0	0
CHDH	55349	broad.mit.edu	37	3	53853579	53853579	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:53853579T>C	ENST00000315251.5	-	7	1680	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	415					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)	TCCTGCTGGGTGGGGACCCGC	0.617000													36	80					0	0	0.002222	0	0
SHANK1	50944	broad.mit.edu	37	19	51219589	51219589	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:51219589C>T	ENST00000293441.1	-	2	420	c.402G>A	c.(400-402)gaG>gaA	p.E134E	SHANK1_ENST00000359082.3_Silent_p.E134E|SHANK1_ENST00000391814.1_Silent_p.E134E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	134					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCAGCCTCTCCTCCTCCAGGA	0.612000													19	65					0	0	0.006122	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330888	39330888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:39330888G>A	ENST00000221419.5	-	8	1447	c.1081C>T	c.(1081-1083)Ccc>Tcc	p.P361S	HNRNPL_ENST00000600873.1_Missense_Mutation_p.P228S	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	361	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCATACTGGGGGCCGTAGCGA	0.642000													12	11					0	0	0.001368	0	0
USP19	10869	broad.mit.edu	37	3	49148460	49148460	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:49148460G>A	ENST00000453664.1	-	23	3750	c.3432C>T	c.(3430-3432)gcC>gcT	p.A1144A	USP19_ENST00000417901.1_Silent_p.A1156A|USP19_ENST00000398898.2_Silent_p.A1093A|USP19_ENST00000398896.1_Silent_p.A861A|USP19_ENST00000434032.2_Silent_p.A1154A|USP19_ENST00000398892.3_Silent_p.A1093A|USP19_ENST00000398888.2_Silent_p.A1053A	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1053					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCGGCCCGGGCAGCCTCAC	0.617000													27	56					0	0	0.005443	0	0
DPEP1	1800	broad.mit.edu	37	16	89703943	89703943	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:89703943A>G	ENST00000393092.3	+	8	1127	c.836A>G	c.(835-837)aAc>aGc	p.N279S	DPEP1_ENST00000421184.1_Missense_Mutation_p.N279S|DPEP1_ENST00000261615.4_Missense_Mutation_p.N279S	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	279					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AACAAGGCCAACCTGTCCCAA	0.577000													51	52					0	0	0.003610	0	0
FBXW9	84261	broad.mit.edu	37	19	12800063	12800063	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:12800063G>A	ENST00000380339.3	-	10	1470	c.1434C>T	c.(1432-1434)gaC>gaT	p.D478D	FBXW9_ENST00000544494.1_Silent_p.D186D|FBXW9_ENST00000393261.3_Silent_p.D448D|FBXW9_ENST00000587955.1_Silent_p.D468D			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	478							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CTAGCGACAGGTCTCCAGAGC	0.657000													15	10					0	0	0.004990	0	0
IGSF9	57549	broad.mit.edu	37	1	159897580	159897580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:159897580G>A	ENST00000368094.1	-	20	3525	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R1094W	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1110						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTCTGAGCCGGGAGCTGGCC	0.597000													36	64					0	0	0.003271	0	0
FAM135B	51059	broad.mit.edu	37	8	139380195	139380195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:139380195G>A	ENST00000395297.1	-	2	202	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	11								p.S11L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGCTCTACCGAAAACTCAAC	0.368000										HNSCC(54;0.14)			38	83					0	0	0.002522	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855983	12855983	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:12855983C>T	ENST00000332296.7	+	4	1366	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	PRAMEF1_ENST00000400814.3_Silent_p.S176S	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	421										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTGAATTCCTTGGTTCGTG	0.552000													28	140					0	0	0.008740	0	0
FAM71B	153745	broad.mit.edu	37	5	156590459	156590459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:156590459C>T	ENST00000302938.4	-	2	912	c.817G>A	c.(817-819)Gga>Aga	p.G273R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	273	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGCTGTTCCTGCCACTGCC	0.582000													55	156					0	0	0.003610	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43016349	43016349	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:43016349G>A	ENST00000473592.1	-	0	2850																											GAATTCTCAGGGAAAGCTTTC	0.373000													20	19					0	0	0.008871	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844842	92844842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:92844842G>A	ENST00000394468.2	-	3	664	c.587C>T	c.(586-588)tCc>tTc	p.S196F	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S184F|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S219F|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S184F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	196	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGGAGAAAAGGAGTAGGTGGA	0.502000													36	69					0	0	0.006230	0	0
SLC8B1	80024	broad.mit.edu	37	12	113758889	113758889	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:113758889G>A	ENST00000552014.1	-	5	849	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Silent_p.L112L|SLC24A6_ENST00000546737.1_Silent_p.L112L			Q6J4K2	NCKX6_HUMAN		112					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CCCAGAATCAGAAACAGGTAG	0.617000													13	16					0	0	0.001368	0	0
FGF5	2250	broad.mit.edu	37	4	81196108	81196108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:81196108G>A	ENST00000312465.7	+	2	627	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_Intron	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	134					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GTAGGAATACGAGGAGTTTTC	0.343000													14	23					0	0	0.008871	0	0
KDM3B	51780	broad.mit.edu	37	5	137761259	137761259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:137761259G>A	ENST00000314358.5	+	17	4599	c.4399G>A	c.(4399-4401)Gag>Aag	p.E1467K	KDM3B_ENST00000542866.1_Missense_Mutation_p.E499K|KDM3B_ENST00000394866.1_Missense_Mutation_p.E1123K	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1467					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GGATGGTTTCGAGATCATATG	0.408000													9	59					0	0	0.006214	0	0
NEBL	10529	broad.mit.edu	37	10	21101729	21101729	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:21101729C>T	ENST00000377122.4	-	24	2883	c.2487G>A	c.(2485-2487)gtG>gtA	p.V829V	NEBL_ENST00000377159.4_Silent_p.V132V|NEBL_ENST00000417816.2_Silent_p.V166V	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	829					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCATCTCCACGATGTGAG	0.532000													20	32					0	0	0.001523	0	0
ZNF483	158399	broad.mit.edu	37	9	114304716	114304716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:114304716G>A	ENST00000309235.5	+	6	1659	c.1501G>A	c.(1501-1503)Ggg>Agg	p.G501R	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	501					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TGATGACTGTGGGAAAGGTTT	0.388000													19	10					0	0	0.006122	0	0
CHST6	4166	broad.mit.edu	37	16	75513311	75513311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:75513311G>A	ENST00000332272.4	-	3	595	c.416C>T	c.(415-417)cCc>cTc	p.P139L	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.P139L	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	139					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGCGCCTCGGGGAAAGGCACT	0.682000													6	35					0	0	0.001984	0	0
SF3B4	10262	broad.mit.edu	37	1	149895501	149895501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:149895501G>A	ENST00000271628.8	-	6	1792	c.1208C>T	c.(1207-1209)cCa>cTa	p.P403L		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	403						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|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)			GGGTCTGGGTGGAGGGAGAGG	0.622000													14	16					0	0	0.004007	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383100	41383100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:41383100G>A	ENST00000301146.4	-	7	1697	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.P335S	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	386						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGCACCTTAGGGAGGAAAAAA	0.532000													31	53					0	0	0.001786	0	0
ANK3	288	broad.mit.edu	37	10	61959912	61959912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:61959912C>T	ENST00000280772.1	-	13	1657	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E	ANK3_ENST00000373827.2_Missense_Mutation_p.G483E|ANK3_ENST00000503366.1_Missense_Mutation_p.G472E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	489					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TACCTGAGCTCCGTCTTGTAC	0.428000													16	30					0	0	0.004990	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940116	68940116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:68940116G>A	ENST00000433211.1	-	7	1180	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R336C|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R336C	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	336					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.R336C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGAGCCTGGCGAATGGCGTTG	0.512000													42	32					0	0	0.002222	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2493252	2493252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:2493252G>A	ENST00000355716.4	+	6	991	c.692G>A	c.(691-693)aGg>aAg	p.R231K		NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	231					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		AGAAAGCCAAGGGGTGAGCAC	0.572000			"""Mis, N, F"""		follicular lymphoma								40	76					0	0	0.002852	0	0
DNAH9	1770	broad.mit.edu	37	17	11592929	11592929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:11592929G>A	ENST00000262442.3	+	20	3858	c.3790G>A	c.(3790-3792)Gag>Aag	p.E1264K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1264K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1264	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGCACATCGAGATCCAGCA	0.493000													48	39					0	0	0.003610	0	0
AMTN	401138	broad.mit.edu	37	4	71396865	71396865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:71396865G>A	ENST00000339336.4	+	8	597	c.467G>A	c.(466-468)gGa>gAa	p.G156E	AMTN_ENST00000504451.1_Missense_Mutation_p.G155E	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	156					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CTTCCAGCAGGAGGAGCAGGT	0.607000													17	26					0	0	0.004990	0	0
TBC1D21	161514	broad.mit.edu	37	15	74178861	74178861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:74178861G>A	ENST00000300504.2	+	8	768	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	TBC1D21_ENST00000562056.1_Missense_Mutation_p.G192S|TBC1D21_ENST00000535547.2_Missense_Mutation_p.G193S	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	229	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						AGAAGGGAAGGGTGCAGGGGC	0.557000													24	41					0	0	0.003954	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890178	228890178	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:228890178C>A	ENST00000392056.3	-	5	419	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E125*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	125						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATTTCATTTTCTTTTGGTTGT	0.363000													18	43					1.33834e-09	1.48797e-09	0.007413	1	0
RFPL2	10739	broad.mit.edu	37	22	32589190	32589190	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:32589190A>G	ENST00000248980.4	-	1	276	c.72T>C	c.(70-72)ttT>ttC	p.F24F	RFPL2_ENST00000400237.1_Intron|RFPL2_ENST00000400236.3_Intron|RFPL2_ENST00000248983.4_Intron|RFPL2_ENST00000489846.1_5'UTR	NM_006605.3	NP_006596.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	0							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTGCCAGGGGAAAAGTACACA	0.468000													38	54					0	0	0.005524	0	0
ATP12A	479	broad.mit.edu	37	13	25283526	25283526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:25283526G>A	ENST00000218548.6	+	18	2869	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	ATP12A_ENST00000381946.3_Missense_Mutation_p.E840K	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	840					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTTGGCGTACGAGAAAGCTGA	0.562000													15	63					0	0	0.008871	0	0
RDH16	8608	broad.mit.edu	37	12	57346031	57346031	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57346031C>T	ENST00000398138.3	-	4	1593		c.e4-1		RDH16_ENST00000360752.4_Splice_Site	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)						lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						GATTTCTTATCTGTTAAGAAT	0.478000													11	14					0	0	0.000978	0	0
DSEL	92126	broad.mit.edu	37	18	65180536	65180536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:65180536G>A	ENST00000310045.7	-	2	2813	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	437						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CAGCTTCCCAGATTTAAAAGA	0.458000													12	28					0	0	0.001368	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567727	99567727	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:99567727C>T	ENST00000331335.5	-	5	3263	c.2793G>A	c.(2791-2793)acG>acA	p.T931T	FILIP1L_ENST00000471562.1_Silent_p.T691T|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Silent_p.T507T|FILIP1L_ENST00000354552.3_Silent_p.T931T|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Silent_p.T691T|CMSS1_ENST00000496116.1_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	931						cytoplasm|membrane|myosin complex|nucleus		p.T931T(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTGCAGTACTCGTGTAAGAGT	0.473000													52	168					0	0	0.003610	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1507247	1507247	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:1507247G>A	ENST00000330475.4	-	9	1289	c.846C>T	c.(844-846)ctC>ctT	p.L282L	ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000413997.2_Silent_p.L292L|ADAMTSL5_ENST00000395467.2_Silent_p.L51L	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	282						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GCACCTGTAGGAGCAGGTCAT	0.677000													40	70					0	0	0.006999	0	0
DEPTOR	64798	broad.mit.edu	37	8	121019092	121019092	+	Missense_Mutation	SNP	C	C	T	rs147092773		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:121019092C>T	ENST00000286234.5	+	7	1104	c.974C>T	c.(973-975)cCg>cTg	p.P325L	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Missense_Mutation_p.P224L	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	325					intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						CCCGGGGCTCCGTATGCAAGG	0.507000													14	26					0	0	0.003163	0	0
COL8A2	1296	broad.mit.edu	37	1	36564376	36564376	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:36564376C>T	ENST00000397799.1	-	4	1130	c.906G>A	c.(904-906)ggG>ggA	p.G302G	COL8A2_ENST00000481785.1_Silent_p.G237G|COL8A2_ENST00000303143.4_Silent_p.G302G			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	302	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCCCGGGTCCCTGGCTCCC	0.697000													14	14					0	0	0.003163	0	0
LRP1B	53353	broad.mit.edu	37	2	141108583	141108583	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:141108583A>G	ENST00000389484.3	-	77	12646	c.11675T>C	c.(11674-11676)aTt>aCt	p.I3892T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3892					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCATTAGCAATGTAGAGAAC	0.284000										TSP Lung(27;0.18)			51	62					0	0	0.003610	0	0
PALLD	23022	broad.mit.edu	37	4	169632817	169632817	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:169632817G>A	ENST00000335742.7	+	10	1918	c.561G>A	c.(559-561)ttG>ttA	p.L187L	PALLD_ENST00000261509.6_Silent_p.L569L|PALLD_ENST00000505667.1_Silent_p.L569L|PALLD_ENST00000512127.1_Silent_p.L187L			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	569					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTCCAATCTTGGAGACAAGTT	0.483000									Pancreatic Cancer, Familial Clustering of				18	37					0	0	0.004990	0	0
CUL7	9820	broad.mit.edu	37	6	43019452	43019452	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:43019452C>T	ENST00000535468.1	-	3	968	c.882G>A	c.(880-882)gaG>gaA	p.E294E	CUL7_ENST00000265348.3_Silent_p.E210E	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	210					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.E210D(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGGTGTTTCTCAATGGCTT	0.532000													59	104					0	0	0.003610	0	0
LMOD3	56203	broad.mit.edu	37	3	69168726	69168726	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:69168726C>T	ENST00000420581.2	-	2	959	c.780G>A	c.(778-780)ctG>ctA	p.L260L	LMOD3_ENST00000475434.1_Silent_p.L260L|LMOD3_ENST00000489031.1_Silent_p.L260L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	260						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CAATGTTGTTCAGGTTGAGTT	0.408000													71	135					0	0	0.003610	0	0
OR10K2	391107	broad.mit.edu	37	1	158390183	158390183	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158390183G>A	ENST00000314902.2	-	1	473	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGGATGTGATGATCTGTGCAA	0.493000													26	34					0	0	0.003954	0	0
LMAN1	3998	broad.mit.edu	37	18	57014785	57014785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:57014785G>A	ENST00000251047.5	-	7	1499	c.782C>T	c.(781-783)tCt>tTt	p.S261F	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	261	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AGTCAGAAAAGAAAGGACATC	0.289000													19	12					0	0	0.001523	0	0
OR5B21	219968	broad.mit.edu	37	11	58275543	58275543	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:58275543G>A	ENST00000360374.2	-	1	35	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTAATCCCAAGAGGATAAACT	0.438000													17	38					0	0	0.007413	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038246	62038246	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:62038246G>A	ENST00000354587.3	-	17	2570	c.2394C>T	c.(2392-2394)atC>atT	p.I798I	KCNQ2_ENST00000359125.2_Silent_p.I790I|KCNQ2_ENST00000360480.3_Silent_p.I762I|KCNQ2_ENST00000370226.1_Silent_p.I760I|KCNQ2_ENST00000430658.1_Silent_p.I759I|KCNQ2_ENST00000359689.1_Silent_p.I790I|KCNQ2_ENST00000344462.3_Silent_p.I786I|KCNQ2_ENST00000370224.1_Silent_p.I798I|KCNQ2_ENST00000357249.2_Silent_p.I772I			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	790					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.I790I(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCACGGACGGGATGGAGATGG	0.672000													7	15					0	0	0.004482	0	0
UGT2A2	574537	broad.mit.edu	37	4	70504802	70504802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70504802G>A	ENST00000457664.2	-	1	556	c.557C>T	c.(556-558)tCa>tTa	p.S186L	UGT2A1_ENST00000514019.1_Missense_Mutation_p.S387L|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron	NM_001105677.2	NP_001099147.2																					CTCCACTGTTGATGCTGGAGA	0.453000													15	25					0	0	0.004007	0	0
FRMD4A	55691	broad.mit.edu	37	10	13693946	13693946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:13693946C>T	ENST00000357447.2	-	24	3447	c.3079G>A	c.(3079-3081)Gat>Aat	p.D1027N	FRMD4A_ENST00000358621.4_Missense_Mutation_p.D1012N|FRMD4A_ENST00000378503.1_Missense_Mutation_p.D1027N	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1027						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCAGACCCATCCAGAATGGGT	0.478000													18	71					0	0	0.003330	0	0
PRKDC	5591	broad.mit.edu	37	8	48809737	48809737	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:48809737G>A	ENST00000314191.2	-	30	3638	c.3582C>T	c.(3580-3582)ttC>ttT	p.F1194F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.F1194F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1194					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.F1194F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATAAAGGAACGAATTTATAAA	0.368000								Non-homologous end-joining					71	138					0	0	0.003610	0	0
COL28A1	340267	broad.mit.edu	37	7	7484055	7484055	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:7484055C>T	ENST00000399429.3	-	19	1715	c.1575G>A	c.(1573-1575)ggG>ggA	p.G525G		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	525	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTACCTTCTTCCCTGCAGCTC	0.453000													45	77					0	0	0.003610	0	0
RASGRF1	5923	broad.mit.edu	37	15	79298706	79298706	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:79298706G>A	ENST00000419573.3	-	15	2210	c.1936C>T	c.(1936-1938)Ctg>Ttg	p.L646L	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.L633L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	646	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGGATCTGCAGCACTTTGCAG	0.557000													27	52					0	0	0.004656	0	0
HTR4	3360	broad.mit.edu	37	5	147889316	147889316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:147889316G>A	ENST00000360693.3	-	6	917	c.779C>T	c.(778-780)aCc>aTc	p.T260I	HTR4_ENST00000520514.1_Missense_Mutation_p.T260I|HTR4_ENST00000521735.1_Missense_Mutation_p.T260I|HTR4_ENST00000354217.2_Missense_Mutation_p.T260I|HTR4_ENST00000377888.3_Missense_Mutation_p.T260I|HTR4_ENST00000362016.2_Missense_Mutation_p.T274I|HTR4_ENST00000314512.6_Missense_Mutation_p.T260I|HTR4_ENST00000521530.1_Missense_Mutation_p.T260I|HTR4_ENST00000517929.1_Missense_Mutation_p.T260I	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	260					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GATGCACAGGGTCTTGGCTGC	0.547000													29	33					0	0	0.001786	0	0
STRBP	55342	broad.mit.edu	37	9	125932298	125932298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:125932298C>T	ENST00000447404.2	-	5	722	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	STRBP_ENST00000360998.3_Missense_Mutation_p.E126K|STRBP_ENST00000348403.5_Missense_Mutation_p.E140K			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	140	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACACATTGTTCCACTTGATAT	0.348000													10	5					0	0	0.002450	0	0
KLHL13	90293	broad.mit.edu	37	X	117043777	117043777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:117043777G>A	ENST00000371876.1	-	4	3121	c.700C>T	c.(700-702)Cca>Tca	p.P234S	KLHL13_ENST00000541812.1_Missense_Mutation_p.P269S|KLHL13_ENST00000371878.1_Missense_Mutation_p.P234S|KLHL13_ENST00000539496.1_Missense_Mutation_p.P288S|KLHL13_ENST00000469946.1_Missense_Mutation_p.P234S|KLHL13_ENST00000371882.1_Missense_Mutation_p.P234S|KLHL13_ENST00000262820.3_Missense_Mutation_p.P285S|KLHL13_ENST00000540167.1_Missense_Mutation_p.P269S|KLHL13_ENST00000545703.1_Missense_Mutation_p.P243S			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	285	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTCATCAGTGGAAATCGTATG	0.433000													43	18					0	0	0.002852	0	0
TGM2	7052	broad.mit.edu	37	20	36779353	36779353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:36779353C>T	ENST00000361475.2	-	4	713	c.540G>A	c.(538-540)tgG>tgA	p.W180*	TGM2_ENST00000536724.1_Nonsense_Mutation_p.W120*|TGM2_ENST00000536701.1_Nonsense_Mutation_p.W99*	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	180					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GCCCAAAATTCCAAGGTATGT	0.582000													62	92					0	0	0.003610	0	0
ESCO2	157570	broad.mit.edu	37	8	27634107	27634107	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:27634107C>T	ENST00000305188.8	+	3	520	c.282C>T	c.(280-282)ctC>ctT	p.L94L	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	94					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AGTGGTACCTCAATCCACTGG	0.353000									SC Phocomelia syndrome				22	30					0	0	0.001523	0	0
EIF2S3	1968	broad.mit.edu	37	X	24086119	24086119	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:24086119C>T	ENST00000253039.4	+	9	1159	c.906C>T	c.(904-906)tcC>tcT	p.S302S		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	302						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GTATTGTTTCCAAAGATAGTG	0.363000													46	20					0	0	0.003214	0	0
MTMR3	8897	broad.mit.edu	37	22	30416441	30416441	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:30416441C>T	ENST00000333027.3	+	17	3121	c.2793C>T	c.(2791-2793)gcC>gcT	p.A931A	MTMR3_ENST00000323630.5_Silent_p.A795A|MTMR3_ENST00000406629.1_Silent_p.A931A|MTMR3_ENST00000401950.2_Silent_p.A931A|MTMR3_ENST00000351488.3_Silent_p.A931A|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	931					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GCAATGGTGCCCCAGAGACTG	0.577000													32	48					0	0	0.003271	0	0
OR51B5	282763	broad.mit.edu	37	11	5364700	5364700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5364700C>T	ENST00000300773.2	-	1	109	c.55G>A	c.(55-57)Gag>Aag	p.E19K	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGCTTCCTCCAAGCCTGGA	0.423000													20	33					0	0	0.002299	0	0
SP140	11262	broad.mit.edu	37	2	231112730	231112730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:231112730G>A	ENST00000392045.3	+	8	956	c.842G>A	c.(841-843)aGa>aAa	p.R281K	SP140_ENST00000350136.5_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.R281K|SP140_ENST00000343805.6_Missense_Mutation_p.R255K|SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Intron	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	281					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCCAGAAAAAGAAACCAAGAC	0.493000													25	33					0	0	0.002780	0	0
SMTNL1	219537	broad.mit.edu	37	11	57311208	57311208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:57311208G>A	ENST00000457912.1	+	3	898	c.898G>A	c.(898-900)Gag>Aag	p.E300K	SMTNL1_ENST00000527972.1_Missense_Mutation_p.E282K|SMTNL1_ENST00000399154.2_Missense_Mutation_p.E245K			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	282										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CCCCACTGGGGAGGGGCACAA	0.647000													4	7					0	0	0.000248	0	0
USP10	9100	broad.mit.edu	37	16	84797807	84797807	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:84797807C>T	ENST00000219473.7	+	10	1883	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	USP10_ENST00000570191.1_Silent_p.S594S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	590					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ACAAGACTTCCGTCACCCGCC	0.488000													27	82					0	0	0.003954	0	0
RP1	6101	broad.mit.edu	37	8	55538364	55538364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:55538364G>A	ENST00000220676.1	+	4	2070	c.1922G>A	c.(1921-1923)aGa>aAa	p.R641K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	641					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTCACTGCAAGAATTGACAGA	0.353000													22	29					0	0	0.002299	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239651	1239651	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:1239651C>T	ENST00000324642.3	+	6	942	c.819C>T	c.(817-819)atC>atT	p.I273I	SLC6A18_ENST00000296821.4_Silent_p.I268I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	273					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAGGACACATCGCTTTTGCAA	0.582000													16	82					0	0	0.004990	0	0
FRAS1	80144	broad.mit.edu	37	4	79369340	79369340	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:79369340C>T	ENST00000264895.6	+	44	6584	c.6144C>T	c.(6142-6144)gtC>gtT	p.V2048V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2047					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTGGCATGGTCGTGGATGAGT	0.542000													21	39					0	0	0.004656	0	0
CAMTA2	23125	broad.mit.edu	37	17	4889558	4889558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:4889558G>A	ENST00000361571.5	-	2	440	c.29C>T	c.(28-30)cCc>cTc	p.P10L	CAMTA2_ENST00000358183.4_5'UTR|CAMTA2_ENST00000572543.1_5'UTR|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P10L|CAMTA2_ENST00000381311.5_Intron|CAMTA2_ENST00000348066.3_5'UTR	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	475					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CGGCCTGAGGGGCCGGGGGGA	0.592000													7	4					0	0	0.004482	0	0
C8orf47	203111	broad.mit.edu	37	8	99101565	99101565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:99101565G>A	ENST00000318528.3	+	2	679	c.320G>A	c.(319-321)gGa>gAa	p.G107E	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	107										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			ACTCAGCCTGGAGAGGGACTG	0.577000													30	56					0	0	0.008361	0	0
MYO1A	4640	broad.mit.edu	37	12	57431350	57431350	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57431350G>A	ENST00000442789.2	-	20	2324	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	MYO1A_ENST00000300119.3_Silent_p.F679F|MYO1A_ENST00000544473.1_Silent_p.F517F	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	679	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCTTCTAATGAAGATCTTTG	0.537000													108	231					0	0	0.003610	0	0
DOCK5	80005	broad.mit.edu	37	8	25156545	25156545	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:25156545T>C	ENST00000276440.7	+	8	736	c.692T>C	c.(691-693)tTt>tCt	p.F231S	DOCK5_ENST00000481100.1_Missense_Mutation_p.F231S	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	231						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCAAGAACTTTGTCTGCAAC	0.507000													7	29					0	0	0.003080	0	0
FGF23	8074	broad.mit.edu	37	12	4479808	4479808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:4479808G>A	ENST00000237837.1	-	3	602	c.457C>T	c.(457-459)Ccg>Tcg	p.P153S		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	153					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGGGAGTACGGGGGTGGGTTC	0.617000													38	72					0	0	0.004878	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880881	15880881	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:15880881C>T	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							GTCCGATCTTCTTCCAGAAAC	0.493000													4	1					0	0	0.000248	0	0
IGSF9	57549	broad.mit.edu	37	1	159897581	159897581	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:159897581G>A	ENST00000368094.1	-	20	3524	c.3327C>T	c.(3325-3327)tcC>tcT	p.S1109S	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.S1093S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1109						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCTGAGCCGGGAGCTGGCCA	0.592000													37	62					0	0	0.003271	0	0
NCR3	259197	broad.mit.edu	37	6	31557865	31557865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:31557865G>A	ENST00000376073.4	-	2	345	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	NCR3_ENST00000376072.3_Missense_Mutation_p.R28C|NCR3_ENST00000340027.5_Missense_Mutation_p.R28C|NCR3_ENST00000376071.4_Missense_Mutation_p.R28C|NCR3_ENST00000491161.1_5'UTR	NM_001145466.1	NP_001138938.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	28	Ig-like.				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						TCCAGGGTACGAATCTCAGGG	0.572000													32	64					0	0	0.002445	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338733	5338733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:5338733C>T	ENST00000396872.2	+	8	1158	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	SLC29A4_ENST00000406453.3_Nonsense_Mutation_p.Q319*|SLC29A4_ENST00000297195.4_Nonsense_Mutation_p.Q333*	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	333					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCAAGGGTCCAGCGCAGCTG	0.721000													9	9					0	0	0.004482	0	0
IL34	146433	broad.mit.edu	37	16	70688538	70688538	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:70688538G>A	ENST00000429149.2	+	3	681	c.126G>A	c.(124-126)cgG>cgA	p.R42R	IL34_ENST00000288098.2_Silent_p.R42R|IL34_ENST00000569641.1_Intron|IL34_ENST00000566361.1_Silent_p.R17R	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	42					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	p.R42Q(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTTTTCTGCGGGACAAGCTGC	0.592000											OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	72					0	0	0.001368	0	0
ASPM	259266	broad.mit.edu	37	1	197104367	197104367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:197104367G>A	ENST00000367409.4	-	5	2288	c.2032C>T	c.(2032-2034)Ccc>Tcc	p.P678S	ASPM_ENST00000294732.7_Missense_Mutation_p.P678S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	678					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGGTGTCTGGGAATATCTAAG	0.333000													14	37					0	0	0.003163	0	0
NKX6-1	4825	broad.mit.edu	37	4	85419084	85419084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:85419084C>T	ENST00000295886.4	-	1	519	c.298G>A	c.(298-300)Gat>Aat	p.D100N		NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	100				D -> N (in Ref. 1; AAD11962).	detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CTCAGGATATCGTTGATGCCG	0.741000													5	6					0	0	0.000602	0	0
SPRYD4	283377	broad.mit.edu	37	12	56862919	56862919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:56862919C>T	ENST00000338146.5	+	2	257	c.182C>T	c.(181-183)cCc>cTc	p.P61L	MIP_ENST00000555551.1_5'UTR	NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	61	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						GGATTGGAGCCCACCAAGGTG	0.562000													36	68					0	0	0.004289	0	0
TMEM169	92691	broad.mit.edu	37	2	216960723	216960723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:216960723C>T	ENST00000454545.1	+	3	363	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F	TMEM169_ENST00000295658.4_Missense_Mutation_p.L13F|TMEM169_ENST00000437356.2_Missense_Mutation_p.L13F|TMEM169_ENST00000406027.2_Missense_Mutation_p.L13F	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	13						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGGTCCAGCTTCCAAGCCC	0.527000													34	40					0	0	0.002836	0	0
KCTD7	154881	broad.mit.edu	37	7	66270311	66270311	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:66270311C>T	ENST00000380828.2	+	10	1279	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	RABGEF1_ENST00000284957.5_Silent_p.I335I|KCTD7_ENST00000451741.2_Silent_p.I335I|RABGEF1_ENST00000437078.2_Silent_p.I349I|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Silent_p.I335I|RABGEF1_ENST00000439720.2_Silent_p.I348I|RABGEF1_ENST00000450873.2_Silent_p.I335I			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGTCTAATATCCAGTATATCA	0.502000													38	59					0	0	0.006999	0	0
BIRC6	57448	broad.mit.edu	37	2	32666457	32666457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:32666457C>T	ENST00000421745.2	+	17	4005	c.3871C>T	c.(3871-3873)Cgg>Tgg	p.R1291W		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1291					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGAAAACCTCCGGGGCTGTGA	0.303000													27	23					0	0	0.007291	0	0
CNST	163882	broad.mit.edu	37	1	246811001	246811001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:246811001C>T	ENST00000366513.4	+	9	1767	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Nonsense_Mutation_p.Q500*	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	500					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACCACAGGCGCAGGCTGACTC	0.473000													33	50					0	0	0.002096	0	0
DICER1	23405	broad.mit.edu	37	14	95596409	95596409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:95596409G>A	ENST00000526495.1	-	7	850	c.559C>T	c.(559-561)Cga>Tga	p.R187*	DICER1_ENST00000343455.3_Nonsense_Mutation_p.R187*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.R187*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.R187*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.R187*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	187	Helicase ATP-binding.				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)		ATAATTTCTCGATAGGGGTGG	0.328000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				8	25					0	0	0.006214	0	0
ANKHD1	54882	broad.mit.edu	37	5	139866626	139866626	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:139866626C>T	ENST00000297183.6	+	14	2350	c.2226C>T	c.(2224-2226)gcC>gcT	p.A742A	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.A742A|ANKHD1_ENST00000360839.2_Silent_p.A742A	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTCCTGCCCTTTTAGGAG	0.393000													9	49					0	0	0.004482	0	0
TAS2R42	353164	broad.mit.edu	37	12	11339232	11339232	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:11339232G>A	ENST00000334266.1	-	1	311	c.312C>T	c.(310-312)agC>agT	p.S104S		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	104					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AATAGAAAATGCTTAGGCAGG	0.403000													14	21					0	0	0.001855	0	0
CADPS	8618	broad.mit.edu	37	3	62503824	62503824	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:62503824C>T	ENST00000383710.4	-	14	2742	c.2393_splice	c.e14+1	p.R798_splice	CADPS_ENST00000357948.3_Splice_Site_p.R781_splice|CADPS_ENST00000283269.9_Splice_Site_p.R798_splice	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	798	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGATCCTTACCTAAAATGTGT	0.398000													17	63					0	0	0.006122	0	0
NPY1R	4886	broad.mit.edu	37	4	164247270	164247270	+	Missense_Mutation	SNP	C	C	T	rs148479836		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:164247270C>T	ENST00000296533.2	-	2	968	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	146					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R146Q(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTCCACCCTCGAGGGTTGAT	0.423000													23	45					0	0	0.002780	0	0
PACS1	55690	broad.mit.edu	37	11	65988193	65988193	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:65988193A>G	ENST00000320580.4	+	9	1163	c.1130A>G	c.(1129-1131)aAc>aGc	p.N377S		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	377					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GAGATGTACAACCCCAGCGAC	0.582000													10	43					0	0	0.000978	0	0
PTPRD	5789	broad.mit.edu	37	9	8389246	8389246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:8389246C>T	ENST00000381196.4	-	34	4915	c.4372G>A	c.(4372-4374)Gaa>Aaa	p.E1458K	PTPRD_ENST00000397611.3_Missense_Mutation_p.E1048K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E1052K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E1051K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E1051K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1445K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1458K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1436K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E1048K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E1051K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1458K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1458	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATCTTTCTTCTAGTTTTGTC	0.388000										TSP Lung(15;0.13)			45	25					0	0	0.003610	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324085	61324085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61324085C>T	ENST00000283752.5	-	7	891	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	250					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCATCGATTTCATTTGGCAGC	0.413000													45	34					0	0	0.003610	0	0
SLC13A1	6561	broad.mit.edu	37	7	122811947	122811947	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:122811947A>G	ENST00000194130.2	-	3	279	c.240T>C	c.(238-240)gcT>gcC	p.A80A	SLC13A1_ENST00000539873.1_Silent_p.A16A	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	80						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CCTTGAAATAAGCAGATGCCA	0.333000													21	32					0	0	0.002780	0	0
SMR3A	26952	broad.mit.edu	37	4	71232465	71232465	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:71232465C>T	ENST00000226460.4	+	3	255	c.159C>T	c.(157-159)ccC>ccT	p.P53P		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	53	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TTCCACCACCCCATCCTCCAC	0.572000													34	54					0	0	0.003271	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477426	110477426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:110477426C>T	ENST00000378402.5	+	49	8469	c.8365C>T	c.(8365-8367)Cgc>Tgc	p.R2789C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2789					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCTGGCTTTCGCTGGGAACA	0.393000										HNSCC(38;0.096)			31	47					0	0	0.003271	0	0
HELZ2	85441	broad.mit.edu	37	20	62192594	62192594	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:62192594G>A	ENST00000467148.1	-	14	7056	c.6987C>T	c.(6985-6987)ttC>ttT	p.F2329F	HELZ2_ENST00000427522.2_Silent_p.F1760F	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGTCCAGCTCGAACTTCCGAG	0.632000													35	46					0	0	0.005524	0	0
OR6K6	128371	broad.mit.edu	37	1	158725232	158725232	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158725232C>T	ENST00000368144.2	+	1	723	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TCTGTGATTTCACACCTGTGC	0.502000													21	42					0	0	0.008871	0	0
OR5F1	338674	broad.mit.edu	37	11	55761697	55761697	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55761697G>A	ENST00000278409.1	-	1	404	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCCTGGACATGATCAAGGAGT	0.507000													19	28					0	0	0.007413	0	0
CSTF1	1477	broad.mit.edu	37	20	54972519	54972519	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:54972519C>T	ENST00000217109.4	+	3	778	c.426C>T	c.(424-426)gcC>gcT	p.A142A	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	142					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GGATGTTGGCCAAAAGTGCCA	0.408000													28	46					0	0	0.001786	0	0
OR51I1	390063	broad.mit.edu	37	11	5462089	5462089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5462089G>A	ENST00000380211.1	-	1	655	c.656C>T	c.(655-657)tCc>tTc	p.S219F	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGCGTAGGAAAGCAGGAT	0.473000													13	16					0	0	0.001368	0	0
CRB2	286204	broad.mit.edu	37	9	126132723	126132723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:126132723G>A	ENST00000373631.3	+	7	1392	c.1391G>A	c.(1390-1392)aGg>aAg	p.R464K	CRB2_ENST00000373629.2_Missense_Mutation_p.R132K|CRB2_ENST00000359999.3_Missense_Mutation_p.R464K	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	464	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGGCACTGAGGTTTCGCACC	0.607000													9	14					0	0	0.004482	0	0
MTMR8	55613	broad.mit.edu	37	X	63574716	63574716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:63574716C>T	ENST00000374852.3	-	4	476	c.409G>A	c.(409-411)Ggg>Agg	p.G137R	MTMR8_ENST00000453546.1_Missense_Mutation_p.G137R	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	137	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCCATACGCCCAAAGTCTGAT	0.383000													21	11					0	0	0.002780	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675049	40675049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:40675049G>A	ENST00000416151.2	+	1	128	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	KNSTRN_ENST00000249776.8_Missense_Mutation_p.E5K|KNSTRN_ENST00000448395.2_Missense_Mutation_p.E5K	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		GGCGGCTCCCGAAGCCCCGCC	0.582000													6	12					0	0	0.003080	0	0
HRNR	388697	broad.mit.edu	37	1	152191971	152191971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:152191971C>T	ENST00000368801.2	-	3	2209	c.2134G>A	c.(2134-2136)Ggt>Agt	p.G712S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	712					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGTAACCAGAGGACTGC	0.552000													66	122					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9008192	9008192	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9008192C>T	ENST00000397910.4	-	41	39563	c.39360G>A	c.(39358-39360)cgG>cgA	p.R13120R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13122	SEA 7.				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						AGAGACTGTTCCGGTCCAGGG	0.542000													75	129					0	0	0.003610	0	0
LMO2	4005	broad.mit.edu	37	11	33886333	33886333	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:33886333G>A	ENST00000257818.2	-	5	1108	c.279C>T	c.(277-279)ccC>ccT	p.P93P	LMO2_ENST00000395833.3_Silent_p.P24P	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	24					multicellular organismal development	nucleus	protein binding|zinc ion binding	p.P24P(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GCAGGGATGGGGGGATCTGCA	0.617000			T	TRD@	T-ALL								16	46					0	0	0.001523	0	0
ABCG1	9619	broad.mit.edu	37	21	43711712	43711712	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:43711712C>T	ENST00000398437.1	+	14	2221	c.2073C>T	c.(2071-2073)tcC>tcT	p.S691S	ABCG1_ENST00000347800.2_Silent_p.S530S|ABCG1_ENST00000340588.4_Silent_p.S653S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Silent_p.S544S|ABCG1_ENST00000361802.2_Silent_p.S545S|ABCG1_ENST00000398449.3_Silent_p.S533S|ABCG1_ENST00000398457.2_Silent_p.S535S			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	545					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCATGACCTCCCTGGTGGCAC	0.662000													18	7					0	0	0.004990	0	0
ATRN	8455	broad.mit.edu	37	20	3541349	3541349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:3541349G>A	ENST00000262919.5	+	8	1312	c.1244G>A	c.(1243-1245)gGg>gAg	p.G415E	ATRN_ENST00000446916.2_Missense_Mutation_p.G415E	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	415					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GATTCAACTGGGAATGTGACC	0.353000													9	7					0	0	0.008291	0	0
SCN11A	11280	broad.mit.edu	37	3	38889188	38889188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:38889188G>A	ENST00000302328.3	-	26	4571	c.4373C>T	c.(4372-4374)cCt>cTt	p.P1458L	SCN11A_ENST00000456224.3_Missense_Mutation_p.P1420L|SCN11A_ENST00000450244.1_Missense_Mutation_p.P1458L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1458					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAGCGTCGGAGGGAAAGGAAT	0.493000													17	9					0	0	0.007413	0	0
BAI2	576	broad.mit.edu	37	1	32196635	32196635	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:32196635G>A	ENST00000373658.3	-	29	4487	c.4146C>T	c.(4144-4146)ccC>ccT	p.P1382P	BAI2_ENST00000440175.2_Silent_p.P991P|BAI2_ENST00000257070.4_Silent_p.P1349P|BAI2_ENST00000398556.3_Silent_p.P1297P|BAI2_ENST00000398542.1_Silent_p.P1282P|BAI2_ENST00000373655.2_Silent_p.P1382P|BAI2_ENST00000398547.1_Silent_p.P1315P|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Silent_p.P1370P|BAI2_ENST00000527361.1_Silent_p.P1349P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1382					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGCTCGCCGGGGGGTCCCCT	0.701000													7	13					0	0	0.003080	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188579	32188579	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32188579C>T	ENST00000375023.3	-	5	1014	c.876G>A	c.(874-876)caG>caA	p.Q292Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	292	EGF-like 7; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCAGCCCATCCTGGCAAGTGC	0.562000													75	174					0	0	0.003610	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590189	125590189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:125590189C>T	ENST00000504087.1	-	4	5280	c.4243G>A	c.(4243-4245)Gaa>Aaa	p.E1415K	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E1236K	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1415										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCAGAACCTTCAATCTGAAGC	0.388000													9	36					0	0	0.000978	0	0
MAOA	4128	broad.mit.edu	37	X	43603700	43603700	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:43603700C>T	ENST00000338702.3	+	15	1647	c.1524C>T	c.(1522-1524)tcC>tcT	p.S508S	MAOA_ENST00000542639.1_Silent_p.S375S	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	508					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TTGGATTTTCCACATCAGTAA	0.483000													29	10					0	0	0.008361	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603167	138603167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:138603167G>A	ENST00000440172.1	-	2	1253	c.1205C>T	c.(1204-1206)cCt>cTt	p.P402L	KIAA1549_ENST00000422774.1_Missense_Mutation_p.P402L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P352L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	402						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTTGTCCACAGGACCGGGGAG	0.542000			O	BRAF	pilocytic astrocytoma								14	102					0	0	0.001855	0	0
ADAM18	8749	broad.mit.edu	37	8	39506020	39506020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:39506020G>A	ENST00000265707.5	+	12	1249	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	ADAM18_ENST00000379866.1_Missense_Mutation_p.E378K|ADAM18_ENST00000541111.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	402	Disintegrin.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GGAATCCAATGAAGAATGTGA	0.323000													14	22					0	0	0.003163	0	0
LRRC34	151827	broad.mit.edu	37	3	169526514	169526514	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:169526514G>A	ENST00000522526.2	-	2	596	c.159C>T	c.(157-159)ctC>ctT	p.L53L	LRRC34_ENST00000316515.7_Silent_p.L40L|LRRC34_ENST00000446859.1_Silent_p.L53L|LRRC34_ENST00000522830.1_5'UTR			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	40										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AATGTTTCTGGAGACCAGATT	0.294000													7	25					0	0	0.001984	0	0
GPR50-AS1	100128688	broad.mit.edu	37	X	150345100	150345100	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:150345100C>T	ENST00000454196.1	-	0	541																											GCACGCTTTCCTGGAGCTCCT	0.587000													15	5					0	0	0.002450	0	0
CACNA1S	779	broad.mit.edu	37	1	201028418	201028418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:201028418G>A	ENST00000362061.3	-	27	3650	c.3424C>T	c.(3424-3426)Cag>Tag	p.Q1142*	CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.Q1142*	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1142					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGCTCCGACTGGTTGTAGTGC	0.572000													17	35					0	0	0.004990	0	0
RDH8	50700	broad.mit.edu	37	19	10124124	10124124	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:10124124A>G	ENST00000591589.1	+	1	200	c.11A>G	c.(10-12)cAg>cGg	p.Q4R	RDH8_ENST00000171214.1_5'UTR			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	0					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	ATGAATGGTCAGAGTCAGGTG	0.622000													20	31					0	0	0.002299	0	0
ZFR	51663	broad.mit.edu	37	5	32385616	32385616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:32385616C>T	ENST00000265069.8	-	15	2741	c.2639G>A	c.(2638-2640)gGa>gAa	p.G880E		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	880	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTTCCAACCTCCTTCCCTCAT	0.373000													34	78					0	0	0.003755	0	0
SUPT16H	11198	broad.mit.edu	37	14	21834603	21834603	+	Silent	SNP	G	G	A	rs112444644		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21834603G>A	ENST00000216297.2	-	8	1379	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	347					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CATACCCTAGGTTTTTGGTAA	0.393000													28	110					0	0	0.006320	0	0
F5	2153	broad.mit.edu	37	1	169509984	169509984	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:169509984G>A	ENST00000367796.3	-	13	4560	c.4359C>T	c.(4357-4359)ctC>ctT	p.L1453L	F5_ENST00000367797.3_Silent_p.L1448L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1448	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGAGATCCGGGAGAAGGGTGG	0.473000													27	38					0	0	0.004656	0	0
TEC	7006	broad.mit.edu	37	4	48147206	48147206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:48147206G>A	ENST00000381501.3	-	14	1517	c.1360C>T	c.(1360-1362)Ctc>Ttc	p.L454F	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	454	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTCTGTCGGAGGAAATTCAGA	0.473000													45	85					0	0	0.008740	0	0
LRRC55	219527	broad.mit.edu	37	11	56954940	56954940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56954940G>A	ENST00000497933.1	+	2	1159	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	308						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCCAGTGAAGAGGAAGAGAT	0.607000													12	28					0	0	0.001368	0	0
ARPP21	10777	broad.mit.edu	37	3	35833997	35833997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:35833997C>T	ENST00000187397.4	+	19	2612	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	ARPP21_ENST00000458225.1_Missense_Mutation_p.S720F|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000444190.1_Missense_Mutation_p.S700F|ARPP21_ENST00000337271.5_Missense_Mutation_p.S700F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S720F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	719	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTGATGGTTTCCTACCCAACA	0.463000													51	58					0	0	0.003610	0	0
GPR179	440435	broad.mit.edu	37	17	36499507	36499507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:36499507C>T	ENST00000342292.4	-	1	186	c.166G>A	c.(166-168)Gcc>Acc	p.A56T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	56						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCGGCCTCGGCCCCCTCTAGG	0.637000													15	51					0	0	0.003163	0	0
POTEG	404785	broad.mit.edu	37	14	19553734	19553734	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:19553734C>T	ENST00000409832.3	+	1	370	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	106										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACTGCTTCCCCTGCTGCA	0.607000													53	295					0	0	0.003610	0	0
TTC16	158248	broad.mit.edu	37	9	130486511	130486511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:130486511C>T	ENST00000373289.3	+	8	1065	c.985C>T	c.(985-987)Cag>Tag	p.Q329*	TTC16_ENST00000393748.4_Nonsense_Mutation_p.Q153*|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	329							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCACAGCGCCAGCTGTTGCT	0.642000													23	18					0	0	0.004656	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140858107	140858107	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140858107C>T	ENST00000308177.3	+	1	2528	c.2424C>T	c.(2422-2424)ccC>ccT	p.P808P	PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCCCTCCCGGACAGGTAA	0.517000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	9					0	0	0.001984	0	0
ZNF831	128611	broad.mit.edu	37	20	57768088	57768088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:57768088C>T	ENST00000371030.2	+	1	2014	c.2014C>T	c.(2014-2016)Ccc>Tcc	p.P672S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	672						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGCACAGTCCCCACCCAAGA	0.622000													19	21					0	0	0.006122	0	0
GUSBP3	653188	broad.mit.edu	37	5	68902955	68902955	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:68902955G>A	ENST00000510264.2	+	0	30																											CTAAAGGACGGACAGAGCATT	0.393000													32	137					0	0	0.003610	0	0
INHBC	3626	broad.mit.edu	37	12	57843515	57843515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57843515C>T	ENST00000309668.2	+	2	896	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	INHBC_ENST00000550133.1_Intron	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	257					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TGTGGACTTCCGTGAGATTGG	0.562000													18	41					0	0	0.006122	0	0
ATP9B	374868	broad.mit.edu	37	18	76870473	76870473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:76870473C>T	ENST00000426216.2	+	3	429	c.412C>T	c.(412-414)Caa>Taa	p.Q138*	ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000307671.7_Nonsense_Mutation_p.Q138*|ATP9B_ENST00000458297.2_Nonsense_Mutation_p.Q86*|ATP9B_ENST00000586722.1_Nonsense_Mutation_p.Q138*	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	138					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TATAAAAAATCAAAAATACAA	0.383000													10	18					0	0	0.001368	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30690846	30690846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:30690846G>A	ENST00000215790.7	-	6	808	c.644C>T	c.(643-645)gCc>gTc	p.A215V	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.A127V|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.A89V|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.A222V	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	215	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCACCAGAAGGCTTGCTGTGG	0.632000													15	29					0	0	0.004007	0	0
ALPI	248	broad.mit.edu	37	2	233322730	233322730	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:233322730G>A	ENST00000295463.3	+	8	956	c.879G>A	c.(877-879)acG>acA	p.T293T		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	293					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGAGACACGAAATATGAGA	0.622000													28	28					0	0	0.006320	0	0
AXIN1	8312	broad.mit.edu	37	16	396430	396430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:396430G>A	ENST00000262320.3	-	2	967	c.596C>T	c.(595-597)cCc>cTc	p.P199L	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.P199L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	199	RGS.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AAGGAAGGAGGGATAGGTGTT	0.507000											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	38	34					0	0	0.006230	0	0
PAPPA	5069	broad.mit.edu	37	9	118974146	118974146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:118974146G>A	ENST00000328252.3	+	4	2222	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	618					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCAGGGCCAGGAAATGACACC	0.532000													97	69					0	0	0.003610	0	0
C15orf37	283687	broad.mit.edu	37	15	80215371	80215371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:80215371G>A	ENST00000560255.1	+	1	259	c.256G>A	c.(256-258)Gag>Aag	p.E86K	ST20_ENST00000485386.1_Intron|ST20-MTHFS_ENST00000479961.1_Intron|ST20-MTHFS_ENST00000494999.1_Intron					chromosome 15 open reading frame 37											kidney(1)|lung(1)|stomach(1)	3						AGTACCCGCCGAGAGCGGACC	0.672000													11	11					0	0	0.000978	0	0
EXOC6	54536	broad.mit.edu	37	10	94733941	94733941	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:94733941C>T	ENST00000371552.4	+	18	1919	c.1890C>T	c.(1888-1890)gaC>gaT	p.D630D	EXOC6_ENST00000260762.6_Silent_p.D635D|EXOC6_ENST00000443748.2_Silent_p.D532D|EXOC6_ENST00000371547.4_Silent_p.D651D	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	635					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ATTTAATGGACCTTATAAATT	0.299000													86	352					0	0	0.003610	0	0
XCL1	6375	broad.mit.edu	37	1	168549308	168549308	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:168549308G>A	ENST00000367818.3	+	2	234	c.69G>A	c.(67-69)ggG>ggA	p.G23G		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	23					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CAGGTGTAGGGAGTGAAGTCT	0.433000													35	42					0	0	0.004289	0	0
ZNF112	7665	broad.mit.edu	37	19	44832211	44832211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:44832211G>A	ENST00000354340.4	-	4	2150	c.2099C>T	c.(2098-2100)tCa>tTa	p.S700L	ZNF112_ENST00000337401.4_Missense_Mutation_p.S706L|ZNF112_ENST00000536500.1_Missense_Mutation_p.S723L	NM_013380.3	NP_037512.3			zinc finger protein 112																		CTGAAGGTATGATCTCTGACT	0.463000													26	52					0	0	0.003954	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558802	140558802	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140558802C>A	ENST00000239444.2	+	1	1432	c.1187C>A	c.(1186-1188)tCt>tAt	p.S396Y		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		396	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTGAAATCTTCTGTGGGG	0.453000													25	147					7.87624e-14	8.78831e-14	0.002780	1	0
GTPBP10	85865	broad.mit.edu	37	7	90003662	90003662	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:90003662C>T	ENST00000222511.6	+	6	651	c.585C>T	c.(583-585)ttC>ttT	p.F195F	GTPBP10_ENST00000257659.8_Silent_p.F116F	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	195					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						ACAGTGATTTCAAACAGGTAG	0.318000													21	57					0	0	0.002780	0	0
ABCC6	368	broad.mit.edu	37	16	16297280	16297280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:16297280G>A	ENST00000205557.7	-	8	1014	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	329	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGCAGCTTGGGGACAGTGAAC	0.597000													21	65					0	0	0.003330	0	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:140481411C>T	ENST00000288602.6	-	11	1457	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCAAATGATCCAGATCCAAT	0.378000	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				37	70					0	0	0.006230	0	0
OLFML1	283298	broad.mit.edu	37	11	7530740	7530740	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7530740T>A	ENST00000329293.3	+	3	924	c.530T>A	c.(529-531)tTa>tAa	p.L177*	OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Nonsense_Mutation_p.L177*	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	177	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AAGGTGTACTTATTAATTGGA	0.418000													33	58					0	0	0.002445	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130485	117130485	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:117130485T>C	ENST00000310357.3	-	2	511	c.490A>G	c.(490-492)Atg>Gtg	p.M164V	GPRC6A_ENST00000530250.1_Missense_Mutation_p.M164V|GPRC6A_ENST00000368549.3_Missense_Mutation_p.M164V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	164					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)		ACCTGTGGCATGAGCTGTAAA	0.423000													19	51					0	0	0.008871	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43691949	43691949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:43691949C>T	ENST00000395809.1	-	12	3902	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.E466K|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.E474K			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	466					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CTGTCTTTTTCCATGTGGTTC	0.572000													29	90					0	0	0.001786	0	0
RNF213	57674	broad.mit.edu	37	17	78336975	78336975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:78336975C>T	ENST00000582970.1	+	40	11572	c.11429C>T	c.(11428-11430)tCc>tTc	p.S3810F	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S3859F|RNF213_ENST00000336301.6_Missense_Mutation_p.S1883F|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAAGAGGTTTCCTTACCGTGG	0.512000													35	57					0	0	0.004289	0	0
TDRD5	163589	broad.mit.edu	37	1	179609005	179609005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:179609005C>T	ENST00000444136.1	+	10	1802	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	TDRD5_ENST00000294848.8_Nonsense_Mutation_p.R518*|TDRD5_ENST00000367614.1_Nonsense_Mutation_p.R518*	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	518					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGTTTCTGATCGATATGTCAT	0.383000													54	96					0	0	0.003610	0	0
SLC25A52	147407	broad.mit.edu	37	18	29339869	29339869	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29339869C>T	ENST00000269205.5	-	1	974	c.786G>A	c.(784-786)aaG>aaA	p.K262K	SLC25A52_ENST00000579441.2_Silent_p.K252K	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	252					transport	integral to membrane|mitochondrial inner membrane											TTTGGAAAACCTTGGGGAAAG	0.433000													23	20					0	0	0.003330	0	0
FERD3L	222894	broad.mit.edu	37	7	19184784	19184784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:19184784C>T	ENST00000275461.3	-	1	260	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	68	Poly-Glu.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						tggtccacttcgcactcctct	0.632000													20	21					0	0	0.002299	0	0
PCDH18	54510	broad.mit.edu	37	4	138452065	138452065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:138452065C>T	ENST00000344876.4	-	1	1564	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	PCDH18_ENST00000412923.2_Missense_Mutation_p.G393E|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.G173E|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	393	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AACTATTTCTCCATTCAGCCC	0.353000													26	54					0	0	0.008361	0	0
CDCP2	200008	broad.mit.edu	37	1	54605545	54605545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:54605545C>T	ENST00000371330.1	-	4	1845	c.998G>A	c.(997-999)gGg>gAg	p.G333E		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	333	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACACCAATTCCCCAGCAGGGG	0.637000													19	24					0	0	0.006122	0	0
MYO5B	4645	broad.mit.edu	37	18	47428972	47428972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:47428972C>T	ENST00000285039.7	-	21	3102	c.2803G>A	c.(2803-2805)Gat>Aat	p.D935N	MYO5B_ENST00000324581.6_Missense_Mutation_p.D76N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	935					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACCTGCTCATCGATCTTCCGC	0.582000													21	54					0	0	0.001882	0	0
HRAS	3265	broad.mit.edu	37	11	533352	533352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:533352G>A	ENST00000417302.1	-	5	644	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	HRAS_ENST00000451590.1_Intron|HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397594.1_Missense_Mutation_p.R153C|HRAS_ENST00000397596.2_Intron	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	0					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GAGCCAGAGCGGCTGCCCTGT	0.716000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			13	27					0	0	0.001368	0	0
OPRK1	4986	broad.mit.edu	37	8	54147566	54147566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:54147566C>T	ENST00000265572.3	-	3	660	c.363G>A	c.(361-363)atG>atA	p.M121I	OPRK1_ENST00000520287.1_Missense_Mutation_p.M121I|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.M32I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	121					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GCCAGGAATTCATCAAGTAGA	0.423000													29	59					0	0	0.001786	0	0
STK31	56164	broad.mit.edu	37	7	23826183	23826183	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:23826183C>T	ENST00000354639.3	+	19	2726	c.2262C>T	c.(2260-2262)taC>taT	p.Y754Y	STK31_ENST00000433467.2_Silent_p.Y777Y|STK31_ENST00000355870.3_Silent_p.Y777Y|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.Y754Y	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	777	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGCCACCTACCATAGAGCTT	0.423000													15	35					0	0	0.003163	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48597082	48597082	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:48597082A>G	ENST00000323776.5	+	7	1141	c.979A>G	c.(979-981)Act>Gct	p.T327A	MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Missense_Mutation_p.T290A	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	290					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAAGACAAAAACTCAGCGTGG	0.552000													22	32					0	0	0.001523	0	0
NR5A2	2494	broad.mit.edu	37	1	200017832	200017832	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:200017832C>T	ENST00000367362.3	+	5	1242	c.996C>T	c.(994-996)aaC>aaT	p.N332N	NR5A2_ENST00000236914.3_Silent_p.N286N|NR5A2_ENST00000544748.1_Silent_p.N260N	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	332					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGCAGGCTAACCGAAGCAAGC	0.478000													46	62					0	0	0.002852	0	0
MSR1	4481	broad.mit.edu	37	8	16026357	16026357	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:16026357C>T	ENST00000350896.3	-	4	437	c.240G>A	c.(238-240)acG>acA	p.T80T	MSR1_ENST00000262101.5_Silent_p.T80T|MSR1_ENST00000355282.2_Silent_p.T80T|MSR1_ENST00000381998.4_Silent_p.T80T|MSR1_ENST00000445506.2_Silent_p.T98T|MSR1_ENST00000536385.1_Intron	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	80	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGCAATTCTTCGTTTCCCACT	0.383000													28	60					0	0	0.001786	0	0
ANKS1B	56899	broad.mit.edu	37	12	99478708	99478708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:99478708G>A	ENST00000547776.2	-	16	2619	c.2620C>T	c.(2620-2622)Cca>Tca	p.P874S	ANKS1B_ENST00000550693.2_Missense_Mutation_p.P100S|ANKS1B_ENST00000547010.1_Missense_Mutation_p.P450S|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P100S|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P874S|ANKS1B_ENST00000549025.2_Missense_Mutation_p.P43S|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P100S|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P100S|ANKS1B_ENST00000547446.1_Missense_Mutation_p.P69S|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P100S|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P100S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	874	SAM 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTCACCTTTGGAAGGAGCTGG	0.418000													9	14					0	0	0.006214	0	0
REG3A	5068	broad.mit.edu	37	2	79384749	79384749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:79384749G>A	ENST00000393878.1	-	4	663	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	REG3A_ENST00000305165.2_Missense_Mutation_p.P137S|REG3A_ENST00000409839.3_Missense_Mutation_p.P137S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	137	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATGGTGGAGGGATTTCTCTCC	0.547000													23	47					0	0	0.004656	0	0
HOOK3	84376	broad.mit.edu	37	8	42837793	42837793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:42837793G>A	ENST00000307602.4	+	14	1545	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	449					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TGGAAGTCAGGAGTCTTCAGA	0.388000			T	RET	papillary thyroid								25	37					0	0	0.007291	0	0
CASP10	843	broad.mit.edu	37	2	202082315	202082315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:202082315G>A	ENST00000286186.6	+	10	1855	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000346817.5_Missense_Mutation_p.E431K|CASP10_ENST00000313728.7_Missense_Mutation_p.E407K	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	0					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TTGCAGACATGAAGACATCTT	0.473000													16	26					0	0	0.004007	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578576	44578576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:44578576G>A	ENST00000289547.4	-	2	1475	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	NPC1L1_ENST00000546276.1_Missense_Mutation_p.P474S|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P474S|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P474S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	474					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGATTGAGGGGGGCGTAGCAG	0.597000													14	29					0	0	0.002450	0	0
SYT4	6860	broad.mit.edu	37	18	40854289	40854289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:40854289C>T	ENST00000255224.3	-	2	473	c.105G>A	c.(103-105)tgG>tgA	p.W35*	SYT4_ENST00000590752.1_Nonsense_Mutation_p.W17*|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	35						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GACAGCAGATCCATGCAAAGA	0.403000													13	30					0	0	0.001855	0	0
KIAA0408	9729	broad.mit.edu	37	6	127775036	127775036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:127775036C>T	ENST00000483725.3	-	2	427	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	31							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTTTCCCATTCCTTTCTTTCA	0.373000													46	69					0	0	0.002522	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034562	52034562	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52034562G>A	ENST00000346477.3	-	2	347	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SIGLEC6_ENST00000391797.3_Silent_p.F93F|SIGLEC6_ENST00000343300.4_Silent_p.F93F|SIGLEC6_ENST00000359982.4_Silent_p.F93F|SIGLEC6_ENST00000425629.3_Silent_p.F93F|SIGLEC6_ENST00000436458.1_Silent_p.F57F	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	93	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGAGGAGGTGGAATCGGCCCC	0.552000													29	53					0	0	0.007291	0	0
FAM86EP	348926	broad.mit.edu	37	4	3948363	3948363	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:3948363C>T	ENST00000313946.8	-	0	1232																											CGGCCTCTGCCCGAGTTCCCC	0.652000													5	4					0	0	0.000602	0	0
STRA8	346673	broad.mit.edu	37	7	134939945	134939945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:134939945G>A	ENST00000275764.3	+	8	886	c.886G>A	c.(886-888)Ggc>Agc	p.G296S		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	296					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						CTTTTTTAAAGGCCTTAGCTG	0.463000													36	89					0	0	0.005524	0	0
HMCN1	83872	broad.mit.edu	37	1	186047260	186047260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:186047260C>T	ENST00000271588.4	+	55	8736	c.8507C>T	c.(8506-8508)cCt>cTt	p.P2836L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2836L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2836	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGCAGATTCCTCGGGCTAAA	0.428000													12	27					0	0	0.002450	0	0
PDE1A	5136	broad.mit.edu	37	2	183070702	183070702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:183070702C>T	ENST00000435564.1	-	8	1115	c.915G>A	c.(913-915)atG>atA	p.M305I	PDE1A_ENST00000536095.1_Missense_Mutation_p.M201I|PDE1A_ENST00000409365.1_Missense_Mutation_p.M289I|PDE1A_ENST00000358139.2_Missense_Mutation_p.M305I|PDE1A_ENST00000456212.1_Missense_Mutation_p.M305I|PDE1A_ENST00000351439.5_Missense_Mutation_p.M289I|PDE1A_ENST00000410103.1_Missense_Mutation_p.M305I|PDE1A_ENST00000331935.6_Missense_Mutation_p.M305I|PDE1A_ENST00000346717.4_Missense_Mutation_p.M271I	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	305	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.M305I(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCAAGATATTCATTTCTTCTT	0.343000													9	29					0	0	0.006214	0	0
CLCN1	1180	broad.mit.edu	37	7	143042825	143042825	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143042825T>G	ENST00000343257.2	+	17	2229	c.2142T>G	c.(2140-2142)gaT>gaG	p.D714E		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	714					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGGATGAGGATGAGGACGAAG	0.667000											OREG0018402	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	10					0	0	0.000602	0	0
EMR1	2015	broad.mit.edu	37	19	6906464	6906464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:6906464G>A	ENST00000312053.4	+	9	1007	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	EMR1_ENST00000381407.5_Missense_Mutation_p.E183K|EMR1_ENST00000450315.3_Missense_Mutation_p.E147K|EMR1_ENST00000381404.4_Missense_Mutation_p.E272K|EMR1_ENST00000250572.8_Missense_Mutation_p.E324K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	324	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAAATGTAAGGAAGATGTGAT	0.393000													23	47					0	0	0.003330	0	0
PRB2	653247	broad.mit.edu	37	12	11546714	11546714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:11546714C>T	ENST00000389362.4	-	3	333	c.298G>A	c.(298-300)Gga>Aga	p.G100R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGTGGTCCTTGTGGCTTT	0.617000													122	419					0	0	0.003610	0	0
DMTN	2039	broad.mit.edu	37	8	21937924	21937924	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:21937924T>C	ENST00000358242.3	+	12	1395	c.900_splice	c.e12-1	p.L301_splice	DMTN_ENST00000415253.1_Splice_Site_p.L301_splice|DMTN_ENST00000443491.2_Splice_Site_p.L276_splice|DMTN_ENST00000265800.5_Splice_Site_p.L301_splice|DMTN_ENST00000381470.3_Splice_Site_p.L301_splice|DMTN_ENST00000432128.1_Splice_Site_p.L301_splice|DMTN_ENST00000519907.1_Splice_Site_p.L301_splice|DMTN_ENST00000523266.1_Splice_Site_p.L301_splice|DMTN_ENST00000517600.1_Splice_Site_p.L261_splice|DMTN_ENST00000523782.2_Splice_Site_p.L276_splice					dematin actin binding protein																		CCTTTCTAGCTACAGTCCACA	0.597000													31	76					0	0	0.005524	0	0
CCAR1	55749	broad.mit.edu	37	10	70515274	70515274	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:70515274C>T	ENST00000265872.6	+	13	1725	c.1606C>T	c.(1606-1608)Cta>Tta	p.L536L	CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Silent_p.L521L|CCAR1_ENST00000535016.1_Silent_p.L521L	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	536					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGGCATTGATCTAAGTGTGTG	0.413000													39	73					0	0	0.003214	0	0
FBN3	84467	broad.mit.edu	37	19	8176036	8176036	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:8176036G>A	ENST00000600128.1	-	33	4530	c.4116C>T	c.(4114-4116)ctC>ctT	p.L1372L	FBN3_ENST00000601739.1_Silent_p.L1372L|FBN3_ENST00000270509.2_Silent_p.L1372L			Q75N90	FBN3_HUMAN	fibrillin 3	1372	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTTGTCACAGAGGTCCACGT	0.657000													13	33					0	0	0.001368	0	0
LOC645166	645166	broad.mit.edu	37	1	148932901	148932901	+	RNA	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:148932901C>G	ENST00000539543.1	+	0	157					NR_027355.1																						CAGTCTGCGGCCAAGACTCCG	0.612000													7	118					0	0	0.008291	0	0
SULT1E1	6783	broad.mit.edu	37	4	70709918	70709918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70709918C>T	ENST00000226444.3	-	7	845	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	245					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTCATAATTTCGTCTGGCAGT	0.428000													46	106					0	0	0.003610	0	0
NLRP7	199713	broad.mit.edu	37	19	55451638	55451638	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55451638C>T	ENST00000588756.1	-	6	1035	c.549G>A	c.(547-549)ggG>ggA	p.G183G	NLRP7_ENST00000328092.5_Silent_p.G183G|NLRP7_ENST00000592784.1_Silent_p.G183G|NLRP7_ENST00000590030.1_Silent_p.G183G|NLRP7_ENST00000448121.2_Silent_p.G183G|NLRP7_ENST00000446217.1_Silent_p.G211G|NLRP7_ENST00000340844.2_Silent_p.G183G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	183	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCGTGGTTTTCCCCACGCCTG	0.562000													37	61					0	0	0.003271	0	0
OR14J1	442191	broad.mit.edu	37	6	29275193	29275193	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:29275193C>T	ENST00000377160.2	+	1	791	c.727C>T	c.(727-729)Cta>Tta	p.L243L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CCTACCACACCTATTTGTAGC	0.493000													58	106					0	0	0.003610	0	0
EPYC	1833	broad.mit.edu	37	12	91396222	91396222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:91396222C>T	ENST00000261172.3	-	2	213	c.121G>A	c.(121-123)Gat>Aat	p.D41N		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	41					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TACAAATTATCCAGGTCTTCT	0.403000													38	78					0	0	0.006230	0	0
MCM10	55388	broad.mit.edu	37	10	13214476	13214476	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:13214476C>T	ENST00000378694.1	+	3	525	c.450C>T	c.(448-450)tcC>tcT	p.S150S	MCM10_ENST00000484800.2_Silent_p.S150S|MCM10_ENST00000378714.3_Silent_p.S150S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	150					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGCAAAAATCCCCTGGTAAGA	0.403000													36	34					0	0	0.003271	0	0
VCAN	1462	broad.mit.edu	37	5	82815659	82815659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:82815659G>A	ENST00000265077.3	+	7	2099	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	VCAN_ENST00000512590.2_Missense_Mutation_p.E464K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E512K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	512	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCCTTCCAAGGAATTCCCTGT	0.378000													37	58					0	0	0.004878	0	0
CDYL2	124359	broad.mit.edu	37	16	80638340	80638340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:80638340G>A	ENST00000299564.8	-	7	1621	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	CDYL2_ENST00000562812.1_Missense_Mutation_p.S490F|CDYL2_ENST00000566173.1_Missense_Mutation_p.S490F|CDYL2_ENST00000563890.1_Missense_Mutation_p.S490F	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	489						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AAGGCCTTTGGAGGAGCTCCA	0.547000													47	58					0	0	0.003214	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562252	145562252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:145562252C>T	ENST00000355594.4	+	10	2027	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	647										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGCTACAGTCCCTGAGCCAG	0.592000													37	81					0	0	0.006230	0	0
LRP2	4036	broad.mit.edu	37	2	170063063	170063063	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:170063063G>A	ENST00000263816.3	-	39	7452	c.7167C>T	c.(7165-7167)ttC>ttT	p.F2389F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2389					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAAAGATGAGGAAATTTTCTG	0.438000													28	28					0	0	0.005443	0	0
ADPRM	56985	broad.mit.edu	37	17	10608568	10608568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10608568G>A	ENST00000379774.4	+	2	416	c.325G>A	c.(325-327)Gga>Aga	p.G109R	ADPRM_ENST00000527582.2_Missense_Mutation_p.G109R	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		TCATACATGGGGAAACCATGA	0.358000													30	17					0	0	0.008361	0	0
BAD	572	broad.mit.edu	37	11	64037604	64037604	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:64037604G>A	ENST00000544785.1	-	2	393	c.393C>T	c.(391-393)ttC>ttT	p.F131F	BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						AGGCCTGAGGGAAGTACTTCC	0.602000													8	12					0	0	0.006214	0	0
DUXA	503835	broad.mit.edu	37	19	57666724	57666724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57666724C>T	ENST00000554048.2	-	5	454	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TCTAGATCTTCGATTTTGGAA	0.378000													20	35					0	0	0.002780	0	0
ETNPPL	64850	broad.mit.edu	37	4	109681429	109681429	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:109681429G>A	ENST00000296486.3	-	2	244	c.90C>T	c.(88-90)ccC>ccT	p.P30P	ETNPPL_ENST00000411864.2_Silent_p.P30P|ETNPPL_ENST00000510706.1_5'UTR|ETNPPL_ENST00000512646.1_Intron	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CTATTTTGATGGGATCCGATG	0.428000													52	64					0	0	0.003610	0	0
DAB1	1600	broad.mit.edu	37	1	57476449	57476449	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:57476449C>T	ENST00000371236.2	-	14	1850	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	DAB1_ENST00000420954.2_Silent_p.Q527Q|DAB1_ENST00000439789.2_Silent_p.Q443Q|DAB1_ENST00000414851.2_Silent_p.Q511Q|DAB1_ENST00000371234.4_Silent_p.Q529Q|DAB1_ENST00000371231.1_Silent_p.Q562Q|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	562					cell differentiation|nervous system development			p.Q529H(1)|p.Q529Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGGATGAGGCCTGTGATCCAT	0.443000													37	74					0	0	0.005524	0	0
BID	637	broad.mit.edu	37	22	18232883	18232883	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:18232883G>A	ENST00000317361.7	-	2	464	c.138C>T	c.(136-138)gcC>gcT	p.A46A	BID_ENST00000473439.1_Intron|BID_ENST00000342111.5_5'UTR|BID_ENST00000399774.3_5'UTR|BID_ENST00000551952.1_5'UTR|BID_ENST00000399767.1_Intron|BID_ENST00000399765.1_Intron	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	0					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		CACAGTCCATGGCCTGGGCAG	0.687000													15	21					0	0	0.007413	0	0
ATG4B	23192	broad.mit.edu	37	2	242590434	242590434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:242590434C>T	ENST00000405546.3	+	2	522	c.20C>T	c.(19-21)aCc>aTc	p.T7I	ATG4B_ENST00000491867.1_3'UTR|ATG4B_ENST00000402096.1_5'UTR|ATG4B_ENST00000396411.3_5'UTR|ATG4B_ENST00000404914.3_Missense_Mutation_p.T7I|ATG4B_ENST00000474739.2_5'UTR			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	7					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GCTACTCTGACCTACGACACT	0.423000													3	7					0	0	0.004672	0	0
RP1	6101	broad.mit.edu	37	8	55538781	55538781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:55538781G>A	ENST00000220676.1	+	4	2487	c.2339G>A	c.(2338-2340)aGa>aAa	p.R780K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	780					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGAAAATCTAGATCACTAAAT	0.294000													17	48					0	0	0.006122	0	0
PDP2	57546	broad.mit.edu	37	16	66919225	66919225	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:66919225G>A	ENST00000311765.2	+	2	1372	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	346					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TCCCCTGCAGGGCCTTTGGGG	0.572000													27	26					0	0	0.005443	0	0
PDZD2	23037	broad.mit.edu	37	5	32091181	32091181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:32091181G>A	ENST00000438447.1	+	20	8015	c.7627G>A	c.(7627-7629)Gga>Aga	p.G2543R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2543R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2543					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGTCCAGGAGGAAGTGGCCC	0.577000													17	42					0	0	0.006122	0	0
ATP2B2	491	broad.mit.edu	37	3	10401739	10401739	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:10401739G>A	ENST00000397077.1	-	12	2168	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	ATP2B2_ENST00000343816.4_Silent_p.F562F|ATP2B2_ENST00000352432.4_Silent_p.F576F|ATP2B2_ENST00000383800.4_Silent_p.F531F|ATP2B2_ENST00000360273.2_Silent_p.F576F			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	576					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTCCAGCACGAAGCCCAGCA	0.627000													19	43					0	0	0.001523	0	0
TNR	7143	broad.mit.edu	37	1	175355418	175355418	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:175355418C>T	ENST00000367674.1	-	8	2235	c.1527G>A	c.(1525-1527)caG>caA	p.Q509Q	TNR_ENST00000263525.2_Silent_p.Q509Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	509	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAACCAGGATCTGCGTGGGGC	0.483000													8	18					0	0	0.008291	0	0
COL17A1	1308	broad.mit.edu	37	10	105794047	105794047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:105794047C>T	ENST00000353479.5	-	52	4102	c.3812G>A	c.(3811-3813)gGg>gAg	p.G1271E	COL17A1_ENST00000369733.3_Missense_Mutation_p.G1189E	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1271	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCCCTGCGGCCCAGGAGGGCC	0.652000													3	8					0	0	0.004672	0	0
IGHD	3495	broad.mit.edu	37	14	106311954	106311954	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:106311954C>T	ENST00000390556.2	-	0	56																											GGGCTGTTATCCTTTGGGTGT	0.577000													31	44					0	0	0.008361	0	0
RP1L1	94137	broad.mit.edu	37	8	10469741	10469741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:10469741C>T	ENST00000382483.3	-	4	2090	c.1867G>A	c.(1867-1869)Gga>Aga	p.G623R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	623					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAAGAGGCTCCTTCCGAGTCC	0.652000													34	44					0	0	0.002445	0	0
TP53BP1	7158	broad.mit.edu	37	15	43705504	43705504	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:43705504G>A	ENST00000263801.3	-	24	5355	c.5103C>T	c.(5101-5103)agC>agT	p.S1701S	TP53BP1_ENST00000382044.4_Silent_p.S1706S|TP53BP1_ENST00000382039.3_Silent_p.S1656S|TP53BP1_ENST00000450115.2_Silent_p.S1704S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1701					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTCACAGGGGCTCACAAACT	0.542000								Other conserved DNA damage response genes					10	17					0	0	0.006214	0	0
TCP11	6954	broad.mit.edu	37	6	35088804	35088804	+	Silent	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:35088804C>A	ENST00000311875.5	-	6	1053	c.636G>T	c.(634-636)ctG>ctT	p.L212L	TCP11_ENST00000512012.1_Silent_p.L199L|TCP11_ENST00000373974.4_Silent_p.L166L|TCP11_ENST00000373979.2_Silent_p.L137L|TCP11_ENST00000244645.3_Silent_p.L137L|TCP11_ENST00000418521.2_Silent_p.L136L|TCP11_ENST00000412155.2_Silent_p.L161L|TCP11_ENST00000444780.2_Silent_p.L207L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	199					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TCATCCGGCCCAGAACCTGGA	0.448000													5	169					0.000602214	0.000664199	0.000602	1	0
FAM19A2	338811	broad.mit.edu	37	12	62147501	62147501	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:62147501A>G	ENST00000416284.3	-	4	1870	c.286T>C	c.(286-288)Tgc>Cgc	p.C96R	FAM19A2_ENST00000551619.1_Missense_Mutation_p.C96R|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	96						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGCATATGGCACCACCATTTC	0.393000													37	58					0	0	0.002222	0	0
FAM129B	64855	broad.mit.edu	37	9	130269305	130269305	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:130269305G>C	ENST00000373312.3	-	14	2273	c.2060C>G	c.(2059-2061)gCc>gGc	p.A687G	FAM129B_ENST00000373314.3_Missense_Mutation_p.A674G	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	687							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCCTCGGGGGCGGCCTTAGG	0.731000													9	2					0	0	0.004482	0	0
SERPINB4	6318	broad.mit.edu	37	18	61304960	61304960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61304960G>A	ENST00000341074.5	-	8	1281	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	SERPINB4_ENST00000356424.6_Missense_Mutation_p.S337F	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CATCTATGGGGATGAGAATCT	0.398000													56	46					0	0	0.003610	0	0
UBXN2A	165324	broad.mit.edu	37	2	24222604	24222604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:24222604C>T	ENST00000309033.4	+	7	891	c.647C>T	c.(646-648)tCc>tTc	p.S216F	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.S216F|UBXN2A_ENST00000535786.1_Missense_Mutation_p.S163F	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	216	UBX.									endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						CCTCCGTTTTCCCTGGCAACA	0.383000													45	40					0	0	0.003610	0	0
MEF2C	4208	broad.mit.edu	37	5	88047715	88047715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:88047715G>A	ENST00000504921.2	-	5	1220	c.548C>T	c.(547-549)tCt>tTt	p.S183F	MEF2C_ENST00000424173.2_Missense_Mutation_p.S181F|MEF2C_ENST00000514015.1_Missense_Mutation_p.S183F|MEF2C_ENST00000340208.5_Missense_Mutation_p.S201F|MEF2C_ENST00000510942.1_Missense_Mutation_p.S183F|MEF2C_ENST00000508569.1_Missense_Mutation_p.S183F|MEF2C_ENST00000506554.1_Missense_Mutation_p.S183F|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000539796.1_Missense_Mutation_p.S135F|MEF2C_ENST00000437473.2_Missense_Mutation_p.S183F|MEF2C_ENST00000514028.1_Missense_Mutation_p.S183F			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	183	Ser-rich.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TACACCAGGAGACATACTATT	0.478000										HNSCC(66;0.2)			83	158					0	0	0.003610	0	0
TCL6	27004	broad.mit.edu	37	14	96136862	96136862	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:96136862C>T	ENST00000467865.1	+	0	1972				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GTCCTTTTTTCCTTCCTTCTC	0.502000			T	TRA@	T-ALL								19	29					0	0	0.008871	0	0
ZNF317	57693	broad.mit.edu	37	19	9270816	9270816	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9270816C>T	ENST00000247956.6	+	7	800	c.495C>T	c.(493-495)tcC>tcT	p.S165S	ZNF317_ENST00000360385.3_Silent_p.S133S	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GAGAGAAGTCCACTGAATACG	0.512000													19	43					0	0	0.001882	0	0
GCSAML	148823	broad.mit.edu	37	1	247712439	247712439	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:247712439A>G	ENST00000366490.3	+	4	466	c.308A>G	c.(307-309)aAc>aGc	p.N103S	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366488.4_5'UTR					germinal center-associated, signaling and motility-like																		TTTGGTCAGAACTTCCCCAAG	0.522000													15	23					0	0	0.004990	0	0
CARS	833	broad.mit.edu	37	11	3062193	3062193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:3062193C>T	ENST00000397114.3	-	4	485	c.109G>A	c.(109-111)Ggg>Agg	p.G37R	CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397111.5_Missense_Mutation_p.G47R|CARS_ENST00000278224.9_Missense_Mutation_p.G47R|CARS_ENST00000380525.4_Missense_Mutation_p.G130R|CARS_ENST00000401769.3_Missense_Mutation_p.G60R			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	47					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ACCTTTTTCCCATCTTGAGGT	0.493000			T	ALK	ALCL								19	58					0	0	0.007413	0	0
HSPA4L	22824	broad.mit.edu	37	4	128732671	128732671	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:128732671C>T	ENST00000296464.3	+	12	1869	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	HSPA4L_ENST00000508776.1_Silent_p.I486I|HSPA4L_ENST00000439123.2_Silent_p.I517I|HSPA4L_ENST00000505726.1_Silent_p.I460I	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	486					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGTTAACATCCATGGAATCT	0.393000													23	46					0	0	0.003330	0	0
PSG6	5675	broad.mit.edu	37	19	43414942	43414942	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:43414942A>G	ENST00000187910.2	-	3	561	c.496T>C	c.(496-498)Tta>Cta	p.L166L	PSG6_ENST00000292125.2_Silent_p.L166L|PSG6_ENST00000402603.4_Silent_p.L166L	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TCACAGATTAAGCGCACAGCC	0.532000													77	145					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9076887	9076887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9076887G>A	ENST00000397910.4	-	3	10762	c.10559C>T	c.(10558-10560)tCa>tTa	p.S3520L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3521	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						CGCAGGAGATGAAGTCTGAGA	0.507000													61	116					0	0	0.003610	0	0
HPX	3263	broad.mit.edu	37	11	6462171	6462171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6462171G>A	ENST00000265983.3	-	1	123	c.23C>T	c.(22-24)cCc>cTc	p.P8L	HPX_ENST00000525057.1_Intron	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	8					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CAGTGCAACGGGTGCTCCCAG	0.577000													4	14					0	0	0.000602	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315537	30315537	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:30315537C>T	ENST00000375377.1	-	3	3641	c.3540G>A	c.(3538-3540)ggG>ggA	p.G1180G		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1180										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGGTGACAACCCCGTCCACAT	0.582000													44	137					0	0	0.003610	0	0
ITGA1	3672	broad.mit.edu	37	5	52221113	52221113	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:52221113C>T	ENST00000282588.6	+	19	2867	c.2409C>T	c.(2407-2409)ccC>ccT	p.P803P		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	803					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCAGATTCCCTTTGCCAAAG	0.393000													10	37					0	0	0.006214	0	0
C2orf71	388939	broad.mit.edu	37	2	29293657	29293657	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:29293657C>T	ENST00000331664.5	-	1	3470	c.3471G>A	c.(3469-3471)ggG>ggA	p.G1157G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1157					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						CTGCTGGGTTCCCGAGAGGGC	0.622000													18	26					0	0	0.006122	0	0
SNRNP70	6625	broad.mit.edu	37	19	49611065	49611065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:49611065C>T	ENST00000598441.1	+	10	903	c.679C>T	c.(679-681)Ccg>Tcg	p.P227S	SNRNP70_ENST00000221448.5_Intron			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	227					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CGGCCCCTCCCCGCTTCCGCA	0.731000													4	9					0	0	0.000602	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153633216	153633216	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:153633216G>A	ENST00000369809.1	-	6	893	c.264C>T	c.(262-264)ccC>ccT	p.P88P	DNASE1L1_ENST00000393638.1_Silent_p.P88P	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	88					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCCAGCTGGGGGCTGCTCA	0.627000													16	5					0	0	0.004990	0	0
CIDECP	152302	broad.mit.edu	37	3	10059545	10059545	+	RNA	SNP	G	G	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:10059545G>C	ENST00000432401.1	-	0	505																											CCAGTTGAGCGTGGGGCCCCT	0.602000													12	21					0	0	0.000978	0	0
SDF4	51150	broad.mit.edu	37	1	1158713	1158713	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:1158713T>A	ENST00000263741.7	-	4	780	c.488A>T	c.(487-489)aAg>aTg	p.K163M	SDF4_ENST00000360001.6_Missense_Mutation_p.K163M|SDF4_ENST00000545427.1_Missense_Mutation_p.K163M	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	163	EF-hand 2.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		AAACTTCACCTTATACTCGTC	0.517000													38	59					0	0	0.006999	0	0
OR6X1	390260	broad.mit.edu	37	11	123624553	123624553	+	Missense_Mutation	SNP	C	C	T	rs140203672	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:123624553C>T	ENST00000327930.2	-	1	700	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAAGGAATTCGTAGGATTGC	0.473000													24	14					0	0	0.003954	0	0
VRTN	55237	broad.mit.edu	37	14	74823753	74823753	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:74823753G>A	ENST00000256362.4	+	2	508	c.267G>A	c.(265-267)gcG>gcA	p.A89A		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	89					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGTTCGAGGCGGCCAGCATGC	0.647000													15	26					0	0	0.003163	0	0
ZNF229	7772	broad.mit.edu	37	19	44934400	44934400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:44934400C>T	ENST00000291187.4	-	6	860	c.538G>A	c.(538-540)Gga>Aga	p.G180R	ZNF229_ENST00000588931.1_Missense_Mutation_p.G186R|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCCCAAGATCCTTGAATGGGG	0.423000													33	51					0	0	0.002096	0	0
EXOC6	54536	broad.mit.edu	37	10	94715422	94715422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:94715422C>T	ENST00000371552.4	+	17	1738	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	EXOC6_ENST00000260762.6_Missense_Mutation_p.S575F|EXOC6_ENST00000443748.2_Missense_Mutation_p.S472F|EXOC6_ENST00000371547.4_Missense_Mutation_p.S591F	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	575					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ACAAATATTTCCCAAGAAACT	0.333000													83	98					0	0	0.003610	0	0
MUC21	394263	broad.mit.edu	37	6	30954633	30954633	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:30954633C>A	ENST00000376296.3	+	2	922	c.681C>A	c.(679-681)aaC>aaA	p.N227K	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	227	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGCCACCAACTCTGAGTCCA	0.627000													71	136					1.37693e-34	1.54563e-34	0.003610	1	0
GLI3	2737	broad.mit.edu	37	7	42012223	42012223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:42012223G>A	ENST00000395925.3	-	13	1900	c.1816C>T	c.(1816-1818)Cca>Tca	p.P606S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	606					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CACACATATGGTTTCTGCCAA	0.468000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				16	14					0	0	0.003163	0	0
MYCBP2	23077	broad.mit.edu	37	13	77730262	77730262	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:77730262A>G	ENST00000407578.2	-	46	7112	c.6846T>C	c.(6844-6846)ggT>ggC	p.G2282G	MYCBP2_ENST00000357337.6_Silent_p.G2244G|MYCBP2_ENST00000544440.2_Silent_p.G2244G|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGGTAGGCCAACCACAACGAA	0.373000													21	42					0	0	0.001882	0	0
LUZP2	338645	broad.mit.edu	37	11	24753697	24753697	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:24753697G>A	ENST00000533227.1	+	0	243				LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000336930.6_Missense_Mutation_p.D72N	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGCCAAAACTGATGTTCAGAA	0.338000													4	18					0	0	0.001984	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483792	102483792	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:102483792G>T	ENST00000360184.4	+	40	8292	c.8128G>T	c.(8128-8130)Ggg>Tgg	p.G2710W		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2710	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCAGTTTGTTGGGGCTTGTAA	0.522000													32	54					2.08457e-15	2.32875e-15	0.002096	1	0
DDX60	55601	broad.mit.edu	37	4	169176899	169176899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:169176899G>A	ENST00000393743.3	-	26	3811	c.3520C>T	c.(3520-3522)Cga>Tga	p.R1174*	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1174							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTAACTTTTCGAAGTTTGTTA	0.373000													10	38					0	0	0.000978	0	0
AREL1	9870	broad.mit.edu	37	14	75134175	75134175	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:75134175G>A	ENST00000356357.4	-	16	2552	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		CACCTTTTAGGAAATGTTCCA	0.433000													31	70					0	0	0.002836	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024564	55024564	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:55024564C>T	ENST00000324000.3	+	3	2757	c.723C>T	c.(721-723)gcC>gcT	p.A241A		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	241					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTGACGGGGCCATTCTTTGGA	0.413000													20	42					0	0	0.008871	0	0
NCMAP	400746	broad.mit.edu	37	1	24932237	24932237	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:24932237G>A	ENST00000374392.2	+	4	374	c.308G>A	c.(307-309)tGa>tAa	p.*103*	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1			noncompact myelin associated protein																		GAGACGCGATGACCTCTACCC	0.582000													12	44					0	0	0.001368	0	0
LRAT	9227	broad.mit.edu	37	4	155665582	155665582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:155665582G>A	ENST00000336356.3	+	2	357	c.104G>A	c.(103-105)gGg>gAg	p.G35E	LRAT_ENST00000507827.1_Missense_Mutation_p.G35E	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	35					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GAAGACAAAGGGAGGAACAGT	0.557000													25	43					0	0	0.002780	0	0
PRKCB	5579	broad.mit.edu	37	16	24166021	24166021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:24166021G>A	ENST00000303531.7	+	10	1234	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	PRKCB_ENST00000321728.7_Missense_Mutation_p.R361Q	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	361	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTTTCAGAACGAAAAGGCACA	0.507000													7	32					0	0	0.000978	0	0
ASB17	127247	broad.mit.edu	37	1	76397793	76397793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:76397793C>T	ENST00000284142.6	-	1	323	c.184G>A	c.(184-186)Ggt>Agt	p.G62S		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	62					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GCGTCAAAACCATCCAAGTCC	0.403000													52	69					0	0	0.003610	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784004	140784004	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140784004C>T	ENST00000573521.1	+	1	1485	c.1485C>T	c.(1483-1485)acC>acT	p.T495T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGGATACCATCCAAGGGT	0.458000													27	36					0	0	0.004656	0	0
LNPEP	4012	broad.mit.edu	37	5	96320900	96320900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:96320900C>T	ENST00000231368.5	+	3	1669	c.977C>T	c.(976-978)aCc>aTc	p.T326I	LNPEP_ENST00000395770.3_Missense_Mutation_p.T312I	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	326					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAGCAATACACCGCTTTATCA	0.378000													30	67					0	0	0.001786	0	0
PLB1	151056	broad.mit.edu	37	2	28843772	28843772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:28843772C>T	ENST00000422425.2	+	48	3465	c.3421C>T	c.(3421-3423)Ctc>Ttc	p.L1141F	PLB1_ENST00000327757.5_Missense_Mutation_p.L1152F|PLB1_ENST00000541605.1_Missense_Mutation_p.L117F	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1152	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.L1141I(1)|p.L1152I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAACCCTTACCTCCTTGGCTT	0.552000													46	46					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436402	25436402	+	RNA	SNP	G	G	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:25436402G>C	ENST00000424208.1	+	0	997				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GACCCCAGAGGAAGACTTGCG	0.632000													3	13					0	0	0.000248	0	0
TLL1	7092	broad.mit.edu	37	4	166946521	166946521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:166946521C>T	ENST00000061240.2	+	9	1743	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	TLL1_ENST00000507499.1_Missense_Mutation_p.P366S|TLL1_ENST00000513213.1_Missense_Mutation_p.P366S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	366	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCCAGGATTTCCCAATGGCTA	0.383000													45	76					0	0	0.003610	0	0
PKD1L1	168507	broad.mit.edu	37	7	47851488	47851488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:47851488G>A	ENST00000289672.2	-	50	7558	c.7508C>T	c.(7507-7509)cCc>cTc	p.P2503L	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2503					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGGGATGAGGGGACGAGACT	0.592000													5	18					0	0	0.001168	0	0
ZNF497	162968	broad.mit.edu	37	19	58867538	58867538	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:58867538G>A	ENST00000311044.3	-	3	1652	c.1464C>T	c.(1462-1464)caC>caT	p.H488H	ZNF497_ENST00000425453.3_Silent_p.H488H|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCCGCTTCTGGTGCTCGTTGA	0.706000													7	22					0	0	0.006214	0	0
HDAC7	51564	broad.mit.edu	37	12	48188615	48188615	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:48188615G>A	ENST00000080059.7	-	12	1385	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	HDAC7_ENST00000380610.4_Silent_p.G479G|HDAC7_ENST00000354334.3_Silent_p.G425G|HDAC7_ENST00000552960.1_Silent_p.G445G|HDAC7_ENST00000427332.2_Silent_p.G423G	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	423	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TGTGCTCCAGGCCATCGTCCA	0.687000													28	63					0	0	0.005443	0	0
GDPD5	81544	broad.mit.edu	37	11	75152223	75152223	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:75152223G>A	ENST00000526177.1	-	10	2922	c.1044C>T	c.(1042-1044)tcC>tcT	p.S348S	GDPD5_ENST00000336898.3_Silent_p.S486S|GDPD5_ENST00000376282.3_Silent_p.S367S|GDPD5_ENST00000533784.1_Silent_p.S367S|GDPD5_ENST00000529721.1_Silent_p.S486S|GDPD5_ENST00000533805.1_Silent_p.S241S|GDPD5_ENST00000443276.2_3'UTR			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	486	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TCCAGAGGGGGGAAGGCACCT	0.647000													19	9					0	0	0.007413	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74914466	74914466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:74914466G>A	ENST00000289575.5	+	13	2338	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R532Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R421Q|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R504Q|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R626Q|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R421Q	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	648					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GACCTGCTCCGAAACCGGTGA	0.577000													47	21					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141722220	141722220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141722220G>A	ENST00000475668.2	+	7	917	c.863G>A	c.(862-864)aGa>aAa	p.R288K	MGAM_ENST00000549489.2_Missense_Mutation_p.R288K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	288	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATATTTAACAGAGACACAACT	0.458000													8	82					0	0	0.004482	0	0
ATG4B	23192	broad.mit.edu	37	2	242590435	242590435	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:242590435C>T	ENST00000405546.3	+	2	523	c.21C>T	c.(19-21)acC>acT	p.T7T	ATG4B_ENST00000491867.1_3'UTR|ATG4B_ENST00000402096.1_5'UTR|ATG4B_ENST00000396411.3_5'UTR|ATG4B_ENST00000404914.3_Silent_p.T7T|ATG4B_ENST00000474739.2_5'UTR			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	7					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	p.T7T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		CTACTCTGACCTACGACACTC	0.423000													3	7					0	0	0.004672	0	0
PCDH18	54510	broad.mit.edu	37	4	138452734	138452734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:138452734G>A	ENST00000344876.4	-	1	895	c.509C>T	c.(508-510)tCc>tTc	p.S170F	PCDH18_ENST00000412923.2_Missense_Mutation_p.S170F|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	170	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTGTGGAGGGAATTTTCCCC	0.458000													15	31					0	0	0.003163	0	0
ZNF582	147948	broad.mit.edu	37	19	56896278	56896278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56896278G>A	ENST00000301310.4	-	5	666	c.508C>T	c.(508-510)Cct>Tct	p.P170S	ZNF582_ENST00000586929.1_Missense_Mutation_p.P170S	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TACCCAAAAGGTTTTTCTCTA	0.333000													22	54					0	0	0.001882	0	0
NFATC3	4775	broad.mit.edu	37	16	68260301	68260301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:68260301G>A	ENST00000346183.3	+	10	3179	c.3155G>A	c.(3154-3156)gGa>gAa	p.G1052E	NFATC3_ENST00000329524.4_3'UTR|NFATC3_ENST00000349223.5_3'UTR|NFATC3_ENST00000535127.2_3'UTR|RP11-96D1.10_ENST00000571975.1_RNA|RP11-96D1.11_ENST00000571197.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	1052					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GTTTCCCAAGGAGCAGGGGTG	0.502000													18	59					0	0	0.001882	0	0
ATXN2L	11273	broad.mit.edu	37	16	28846987	28846987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:28846987C>T	ENST00000336783.4	+	21	2970	c.2803C>T	c.(2803-2805)Cct>Tct	p.P935S	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P941S|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P935S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P935S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P935S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P935S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P935S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	935						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGCCCAGTCCCCTCAGAGCAG	0.647000													12	49					0	0	0.001368	0	0
ABCB4	5244	broad.mit.edu	37	7	87069527	87069527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:87069527C>T	ENST00000265723.4	-	13	1659	c.1548G>A	c.(1546-1548)atG>atA	p.M516I	ABCB4_ENST00000453593.1_Missense_Mutation_p.M516I|ABCB4_ENST00000545634.1_Missense_Mutation_p.M516I|ABCB4_ENST00000359206.3_Missense_Mutation_p.M516I|ABCB4_ENST00000358400.3_Missense_Mutation_p.M516I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	516	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTGGTAATTTCATGATAAACT	0.368000													9	45					0	0	0.008291	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878935	131878935	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:131878935G>A	ENST00000359827.3	-	14	3704	c.2742C>T	c.(2740-2742)atC>atT	p.I914I	PLXNA4_ENST00000321063.4_Silent_p.I914I			Q9HCM2	PLXA4_HUMAN	plexin A4	914	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTCACACACGATCCTGCAGG	0.607000													33	63					0	0	0.004289	0	0
EMP1	2012	broad.mit.edu	37	12	13367509	13367509	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:13367509T>A	ENST00000256951.5	+	5	557	c.358T>A	c.(358-360)Tat>Aat	p.Y120N	EMP1_ENST00000431267.2_Missense_Mutation_p.Y53N|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000396301.3_Silent_p.I107I	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	120					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CACTAGTCATTATGCGAATCG	0.473000													58	90					0	0	0.003610	0	0
BCL6	604	broad.mit.edu	37	3	187442854	187442854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:187442854G>A	ENST00000406870.2	-	9	2218	c.1852C>T	c.(1852-1854)Cgt>Tgt	p.R618C	BCL6_ENST00000232014.4_Missense_Mutation_p.R618C|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R562C	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	618					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACATGGGCACGGAGGTGGGCC	0.587000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								14	60					0	0	0.003163	0	0
SOGA3	387104	broad.mit.edu	37	6	127797415	127797415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:127797415C>T	ENST00000556132.1	-	6	2620	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	SOGA3_ENST00000368268.2_Missense_Mutation_p.E586K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E586K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E586K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E586K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	586						integral to membrane		p.E586*(1)									AGCTTGAGCTCGGCCTCCCTA	0.557000													54	64					0	0	0.003610	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35919174	35919174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:35919174G>A	ENST00000325722.3	-	12	2131	c.1897C>T	c.(1897-1899)Ctc>Ttc	p.L633F	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.L70F|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	633	PKD 4.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTCCCAGAGATATGAGATA	0.428000													29	59					0	0	0.003755	0	0
KMT2D	8085	broad.mit.edu	37	12	49421009	49421009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:49421009G>A	ENST00000301067.7	-	48	14739	c.14740C>T	c.(14740-14742)Ccc>Tcc	p.P4914S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCGGGGAGGGTTCTTCAGGA	0.632000													76	101					0	0	0.003610	0	0
OR6N2	81442	broad.mit.edu	37	1	158747040	158747040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158747040G>A	ENST00000339258.1	-	1	385	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GTAGTGGAGGGGCCGACAAAT	0.512000													29	51					0	0	0.001786	0	0
TCEA2	6919	broad.mit.edu	37	20	62698282	62698282	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:62698282G>A	ENST00000395053.3	+	3	305	c.150G>A	c.(148-150)ggG>ggA	p.G50G	TCEA2_ENST00000361317.2_Silent_p.G23G|TCEA2_ENST00000343484.5_Silent_p.G50G|TCEA2_ENST00000465111.1_3'UTR			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	50	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	p.G50G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCCGAGTCGGGATGTCTGTCA	0.622000													7	14					0	0	0.003080	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158580	26158580	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:26158580G>A	ENST00000289316.2	+	1	207	c.183G>A	c.(181-183)ggG>ggA	p.G61G	HIST1H2BD_ENST00000377777.4_Silent_p.G61G	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	61					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						AGGCAATGGGGATCATGAATT	0.567000													80	123					0	0	0.003610	0	0
MXRA5	25878	broad.mit.edu	37	X	3229630	3229630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:3229630G>A	ENST00000217939.6	-	7	6768	c.6614C>T	c.(6613-6615)aCc>aTc	p.T2205I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2205	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACCACCAGGGTCCCATTGGC	0.448000													41	8					0	0	0.007835	0	0
LRRC16B	90668	broad.mit.edu	37	14	24526129	24526129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:24526129C>T	ENST00000342740.5	+	13	1112	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	320										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CTCAGGGCTCCAGGCACTCGG	0.627000													11	21					0	0	0.001368	0	0
TRIML2	205860	broad.mit.edu	37	4	189012773	189012773	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:189012773G>A	ENST00000512729.1	-	7	1292	c.918C>T	c.(916-918)ccC>ccT	p.P306P	TRIML2_ENST00000326754.3_Silent_p.P331P	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	306	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTTTCAGAGGGGGGAAGACCC	0.557000													75	137					0	0	0.003610	0	0
C6orf118	168090	broad.mit.edu	37	6	165715373	165715373	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:165715373G>A	ENST00000543069.1	-	2	707	c.126C>T	c.(124-126)ttC>ttT	p.F42F	C6orf118_ENST00000230301.8_Silent_p.F146F			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	146										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCACTGGAAGGAAATCCTCCT	0.627000													49	86					0	0	0.003610	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45642860	45642860	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:45642860G>A	ENST00000427229.2	+	0	19																											CACCTCCTAGGAAATATGCAG	0.428000													3	15					0	0	0.004672	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857848	149857848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:149857848C>T	ENST00000369155.2	-	1	384	c.343G>A	c.(343-345)Ggc>Agc	p.G115S		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	115					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCCTTGGTGCCCTCGGACACG	0.672000													16	38					0	0	0.004007	0	0
EFS	10278	broad.mit.edu	37	14	23829917	23829917	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:23829917G>A	ENST00000216733.3	-	2	751	c.144C>T	c.(142-144)ctC>ctT	p.L48L	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	48	SH3.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GTAGGGAGCAGAGGCACCAGC	0.672000													22	42					0	0	0.002299	0	0
TFRC	7037	broad.mit.edu	37	3	195798339	195798339	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:195798339C>T	ENST00000360110.4	-	6	784	c.615G>A	c.(613-615)aaG>aaA	p.K205K	TFRC_ENST00000420415.1_Silent_p.K124K|TFRC_ENST00000392396.3_Silent_p.K205K|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	205					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		GTCTACCGTTCTTATCAACTA	0.388000			T	BCL6	NHL								27	43					0	0	0.006320	0	0
OR7D4	125958	broad.mit.edu	37	19	9324628	9324628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9324628C>T	ENST00000308682.2	-	1	914	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCCTTCACATCCTTGTTCCTC	0.567000													5	53					0	0	0.003080	0	0
TAAR2	9287	broad.mit.edu	37	6	132938780	132938780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:132938780C>T	ENST00000275191.2	-	1	537	c.430G>A	c.(430-432)Gag>Aag	p.E144K	TAAR2_ENST00000537809.1_Missense_Mutation_p.E144K|TAAR2_ENST00000367931.1_Missense_Mutation_p.E189K	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	189						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TCATAGCCCTCTATTCCATCT	0.483000													26	32					0	0	0.007291	0	0
TACR3	6870	broad.mit.edu	37	4	104577409	104577409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:104577409C>T	ENST00000304883.2	-	3	970	c.830G>A	c.(829-831)gGa>gAa	p.G277E		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	277						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGGGATTTCTCCTCCCCAGAG	0.398000													44	87					0	0	0.003214	0	0
ADRBK1	156	broad.mit.edu	37	11	67052417	67052417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:67052417C>T	ENST00000308595.5	+	19	2044	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	585	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TACCTGTTCCCCAACCGCCTC	0.687000													8	10					0	0	0.008291	0	0
SCN1A	6323	broad.mit.edu	37	2	166848838	166848838	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:166848838C>T	ENST00000423058.2	-	26	4964	c.4947G>A	c.(4945-4947)ctG>ctA	p.L1649L	SCN1A_ENST00000375405.3_Silent_p.L1638L|SCN1A_ENST00000303395.4_Silent_p.L1649L|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L1621L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1649			L -> Q (in FHM3).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTCCTTTGATCAGACGTAGGA	0.488000													39	47					0	0	0.007835	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169104	50169104	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:50169104C>T	ENST00000246785.3	+	1	282	c.24C>T	c.(22-24)ttC>ttT	p.F8F	IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F8F|BCL2L12_ENST00000441864.2_Silent_p.F8F|IRF3_ENST00000597198.1_5'UTR	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	8					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGGGCTGTTCCCGCCCCTAT	0.542000													39	63					0	0	0.003214	0	0
SRRT	51593	broad.mit.edu	37	7	100484522	100484522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100484522C>T	ENST00000388793.4	+	14	1971	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	SRRT_ENST00000347433.4_Missense_Mutation_p.P585L|SRRT_ENST00000432932.1_Missense_Mutation_p.P584L|SRRT_ENST00000457580.2_Missense_Mutation_p.P585L	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	585					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGCGCTCCTCCTGAGGAGCCT	0.617000													41	70					0	0	0.002852	0	0
BRS3	680	broad.mit.edu	37	X	135570517	135570517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:135570517C>T	ENST00000370648.3	+	1	472	c.244C>T	c.(244-246)Cca>Tca	p.P82S		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	82					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCAAACAGTTCCAAATATTTT	0.408000													46	17					0	0	0.003610	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307109	120307109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:120307109C>T	ENST00000369406.3	-	2	294	c.245G>A	c.(244-246)gGa>gAa	p.G82E	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.G82E	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	82					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGTATACTTTCCTGCTTCCAC	0.552000													240	415					0	0	0.003610	0	0
POLQ	10721	broad.mit.edu	37	3	121178949	121178949	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:121178949T>G	ENST00000264233.5	-	25	7228	c.7100A>C	c.(7099-7101)aAg>aCg	p.K2367T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2367					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCAATCATCTTCCACTCTGC	0.428000								DNA polymerases (catalytic subunits)					38	45					0	0	0.002222	0	0
OR5D16	390144	broad.mit.edu	37	11	55606440	55606440	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55606440G>A	ENST00000378396.1	+	1	213	c.213G>A	c.(211-213)gtG>gtA	p.V71V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCTCCTTTGTGGATTTCTGCT	0.413000													37	117					0	0	0.006230	0	0
PRMT3	10196	broad.mit.edu	37	11	20424497	20424497	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:20424497C>T	ENST00000331079.6	+	8	955	c.738C>T	c.(736-738)ttC>ttT	p.F246F	PRMT3_ENST00000437750.2_Silent_p.F184F	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	246							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ACCGAGATTTCATATACCAAA	0.353000													22	85					0	0	0.003954	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288900	98288900	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:98288900T>A	ENST00000322128.3	-	1	1276	c.1173A>T	c.(1171-1173)aaA>aaT	p.K391N		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	391					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TTTCCTTTCCTTTCTCTACAC	0.498000													82	144					0	0	0.003610	0	0
SNTG1	54212	broad.mit.edu	37	8	51449358	51449358	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:51449358G>T	ENST00000522124.1	+	11	1331	c.670G>T	c.(670-672)Gat>Tat	p.D224Y	SNTG1_ENST00000517473.1_Missense_Mutation_p.D224Y|SNTG1_ENST00000518864.1_Missense_Mutation_p.D224Y|SNTG1_ENST00000276467.5_Missense_Mutation_p.D224Y	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	224					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCCCGGCACAGATTTGAGTCG	0.473000													59	115					6.00099e-30	6.72811e-30	0.003610	1	0
ZCCHC7	84186	broad.mit.edu	37	9	37126579	37126579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:37126579C>T	ENST00000336755.5	+	2	356	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	ZCCHC7_ENST00000322831.6_Nonsense_Mutation_p.Q83*|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	84							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TGAGGTCATCCAGCTGTCAGA	0.408000													53	58					0	0	0.003610	0	0
CYP2C18	1562	broad.mit.edu	37	10	96448017	96448017	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:96448017T>G	ENST00000285979.6	+	3	666	c.467T>G	c.(466-468)tTg>tGg	p.L156W	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.L156W	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GTGGAGGAGTTGAGAAAAACC	0.393000													22	85					0	0	0.002780	0	0
PTPRD	5789	broad.mit.edu	37	9	8499706	8499706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:8499706C>T	ENST00000381196.4	-	22	2806	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E742K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E755K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E742K|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E755K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	755	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCACCATTTTCCATCCTCACA	0.458000										TSP Lung(15;0.13)			43	41					0	0	0.003610	0	0
ADAM28	10863	broad.mit.edu	37	8	24187570	24187570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:24187570C>T	ENST00000265769.4	+	11	1155	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	ADAM28_ENST00000437154.2_Missense_Mutation_p.H349Y|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.H116Y|ADAM28_ENST00000397649.3_Missense_Mutation_p.H96Y|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000518516.1_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	349	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.H349Y(1)		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)		TGGAATGTTTCATGACGACTA	0.458000													35	61					0	0	0.003755	0	0
SLIT1	6585	broad.mit.edu	37	10	98819885	98819885	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:98819885G>A	ENST00000266058.4	-	10	1217	c.972C>T	c.(970-972)atC>atT	p.I324I	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I324I|SLIT1_ENST00000371070.4_Silent_p.I324I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	324					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTCCAGGAGGGATGGACTTGA	0.622000													25	30					0	0	0.004656	0	0
TPRG1	285386	broad.mit.edu	37	3	188925383	188925383	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:188925383G>A	ENST00000345063.3	+	2	377	c.210_splice	c.e2+1	p.R70_splice	TPRG1_ENST00000433971.1_Splice_Site_p.R70_splice	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	70										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TTGCTACACGGGTAAATTTAT	0.368000													37	46					0	0	0.006999	0	0
RP1	6101	broad.mit.edu	37	8	55542352	55542352	+	Silent	SNP	G	G	A	rs67738115		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:55542352G>A	ENST00000220676.1	+	4	6058	c.5910G>A	c.(5908-5910)gaG>gaA	p.E1970E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1970					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGGGAAGAGAACAATAAAG	0.299000													23	26					0	0	0.001882	0	0
DIDO1	11083	broad.mit.edu	37	20	61511764	61511764	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:61511764G>A	ENST00000266070.4	-	16	5869	c.5544C>T	c.(5542-5544)ccC>ccT	p.P1848P	DIDO1_ENST00000395343.1_Silent_p.P1848P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1848	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTCCCCATGGGGATCCTTGC	0.602000													42	72					0	0	0.008740	0	0
ADK	132	broad.mit.edu	37	10	75960590	75960590	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:75960590T>G	ENST00000372734.3	+	2	270	c.83T>G	c.(82-84)cTt>cGt	p.L28R	ADK_ENST00000286621.2_Missense_Mutation_p.L45R|ADK_ENST00000539909.1_Missense_Mutation_p.L45R|ADK_ENST00000541550.1_Missense_Mutation_p.L28R	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	45					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	AAAGATTTCCTTGATAAGTAA	0.328000													6	24					0	0	0.001984	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478439	14478439	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:14478439C>T	ENST00000581457.1	-	0	1469					NR_024076.1																						TCCCTGATATCGTGATGAACT	0.448000													5	2					0	0	0.001984	0	0
SLX4	84464	broad.mit.edu	37	16	3639678	3639678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:3639678G>A	ENST00000294008.3	-	12	4601	c.3961C>T	c.(3961-3963)Ccg>Tcg	p.P1321S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1321	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CATGAGGACGGTGTCTGGGGC	0.632000								Direct reversal of damage					43	117					0	0	0.002222	0	0
KLHL6	89857	broad.mit.edu	37	3	183210292	183210292	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:183210292G>A	ENST00000341319.3	-	6	1589	c.1554C>T	c.(1552-1554)atC>atT	p.I518I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	518			I -> V (in dbSNP:rs35354575).							breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CAACGACATAGATGCGGTCCC	0.527000													18	40					0	0	0.002780	0	0
CRAT	1384	broad.mit.edu	37	9	131857852	131857852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:131857852C>T	ENST00000318080.2	-	14	1999	c.1705G>A	c.(1705-1707)Gtg>Atg	p.V569M		NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	569					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TCGGGGACCACGGGCCCGAAG	0.632000													5	24					0	0	0.001168	0	0
TACC2	10579	broad.mit.edu	37	10	123847306	123847306	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:123847306T>C	ENST00000369005.1	+	4	5631	c.5291T>C	c.(5290-5292)cTt>cCt	p.L1764P	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.L1764P|TACC2_ENST00000515603.1_Missense_Mutation_p.L1764P|TACC2_ENST00000453444.2_Missense_Mutation_p.L1764P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.L1764P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1764						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGCTGCCCTTCATGGGGAC	0.642000													13	5					0	0	0.003163	0	0
ABCC6	368	broad.mit.edu	37	16	16297281	16297281	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:16297281G>A	ENST00000205557.7	-	8	1013	c.984C>T	c.(982-984)gtC>gtT	p.V328V	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	328	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCAGCTTGGGGACAGTGAACC	0.592000													21	66					0	0	0.003330	0	0
TG	7038	broad.mit.edu	37	8	134042139	134042139	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:134042139C>T	ENST00000220616.4	+	41	7150	c.7110C>T	c.(7108-7110)atC>atT	p.I2370I	TG_ENST00000377869.1_Silent_p.I2313I|TG_ENST00000542445.1_Silent_p.I740I|TG_ENST00000519543.1_Silent_p.I503I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2370					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGACCCACATCCGAGGATTTG	0.642000													8	31					0	0	0.004482	0	0
GHRHR	2692	broad.mit.edu	37	7	31009443	31009443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:31009443G>A	ENST00000409904.3	+	1	296	c.38G>A	c.(37-39)gGg>gAg	p.G13E	GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Intron			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	0					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CTGGGGAGAGGGAAGGAGTTG	0.597000													32	59					0	0	0.003271	0	0
MYH4	4622	broad.mit.edu	37	17	10348361	10348361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10348361G>A	ENST00000255381.2	-	37	5508	c.5398C>T	c.(5398-5400)Cgt>Tgt	p.R1800C	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1800					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCATCCAGACGGAGCTGCAGA	0.562000													52	39					0	0	0.003610	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032513	21032513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:21032513C>T	ENST00000381545.3	+	11	1498	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P427S|LST3_ENST00000540229.1_Missense_Mutation_p.P427S|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P427S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	427					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCTATATTTCCCTCTAATCTG	0.308000													23	46					0	0	0.005443	0	0
NPTX2	4885	broad.mit.edu	37	7	98256641	98256641	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:98256641C>T	ENST00000265634.3	+	4	1218	c.1053C>T	c.(1051-1053)atC>atT	p.I351I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	351	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCGTGCTGATCCTTGGACAAG	0.672000													16	24					0	0	0.003163	0	0
DPYS	1807	broad.mit.edu	37	8	105459710	105459710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:105459710G>A	ENST00000351513.2	-	3	577	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	149					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCTTGCACAAGGATTTTCATT	0.363000													6	40					0	0	0.001168	0	0
DNAH5	1767	broad.mit.edu	37	5	13735322	13735322	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:13735322G>A	ENST00000265104.4	-	68	11783	c.11679C>T	c.(11677-11679)ttC>ttT	p.F3893F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3893					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGTGAACAGGAATTTGTGCT	0.433000									Kartagener syndrome				23	39					0	0	0.003954	0	0
GRIA3	2892	broad.mit.edu	37	X	122459934	122459934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:122459934C>T	ENST00000264357.5	+	4	858	c.566C>T	c.(565-567)aCa>aTa	p.T189I	GRIA3_ENST00000371256.5_Missense_Mutation_p.T189I|GRIA3_ENST00000541091.1_Missense_Mutation_p.T173I|GRIA3_ENST00000542149.1_Missense_Mutation_p.T189I|GRIA3_ENST00000371251.1_Missense_Mutation_p.T189I	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	189					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGGCAAGTAACAGCAAGGTCT	0.423000													11	15					0	0	0.000978	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47560288	47560288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47560288G>A	ENST00000334194.3	+	7	826	c.823G>A	c.(823-825)Gat>Aat	p.D275N		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	275						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GCTAAAACAAGATACTACTCA	0.353000													25	53					0	0	0.004289	0	0
IPO5	3843	broad.mit.edu	37	13	98654969	98654969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:98654969C>T	ENST00000261574.5	+	15	1499	c.1319C>T	c.(1318-1320)gCc>gTc	p.A440V	IPO5_ENST00000539640.1_Missense_Mutation_p.A297V|IPO5_ENST00000490680.1_Missense_Mutation_p.A422V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	422					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GCCTGTAATGCCGTGGGACAG	0.388000													34	53					0	0	0.006230	0	0
MICAL1	64780	broad.mit.edu	37	6	109768346	109768346	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:109768346C>T	ENST00000368952.4	-	17	2504	c.2214G>A	c.(2212-2214)cgG>cgA	p.R738R	MICAL1_ENST00000358807.3_Silent_p.R719R|MICAL1_ENST00000358577.3_Silent_p.R633R			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	719	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGAAGCAGCTCCGGTGGAAGA	0.627000													30	55					0	0	0.003271	0	0
IL17RC	84818	broad.mit.edu	37	3	9960203	9960203	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:9960203C>T	ENST00000295981.3	+	5	806	c.588C>T	c.(586-588)gtC>gtT	p.V196V	IL17RC_ENST00000403601.3_Silent_p.V125V|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Silent_p.V125V|IL17RC_ENST00000413608.1_Silent_p.V125V|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000383812.4_Silent_p.V125V	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	196						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGCCCAAGTCGTGCTCTCCT	0.642000													28	63					0	0	0.002445	0	0
CALD1	800	broad.mit.edu	37	7	134613622	134613622	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:134613622C>T	ENST00000361388.2	+	4	655	c.189C>T	c.(187-189)acC>acT	p.T63T	CALD1_ENST00000543443.1_Silent_p.T68T|CALD1_ENST00000361675.2_Silent_p.T63T|CALD1_ENST00000393118.2_Silent_p.T57T|CALD1_ENST00000417172.1_Silent_p.T63T|CALD1_ENST00000361901.2_Silent_p.T63T|CALD1_ENST00000424922.1_Silent_p.T57T|CALD1_ENST00000422748.1_Silent_p.T63T|CALD1_ENST00000495522.1_Silent_p.T57T	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	277	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GACAGGTGACCGACCAGGTGG	0.577000													25	35					0	0	0.004656	0	0
GTF3C1	2975	broad.mit.edu	37	16	27495610	27495610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:27495610G>A	ENST00000356183.4	-	25	3938	c.3923C>T	c.(3922-3924)tCt>tTt	p.S1308F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S1308F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1308						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTATCCAAAGACTCTTCAAA	0.468000													29	37					0	0	0.007291	0	0
CTNNA2	1496	broad.mit.edu	37	2	80773066	80773066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:80773066C>T	ENST00000466387.1	+	15	2142	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	CTNNA2_ENST00000361291.4_Missense_Mutation_p.P507L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.P152L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P473L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P473L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P473L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P473L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	473					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.P473R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTGCCCGGCCACAGAGCAAA	0.512000													5	32					0	0	0.000602	0	0
NLRP11	204801	broad.mit.edu	37	19	56321348	56321348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56321348C>T	ENST00000443188.1	-	5	1338	c.628G>A	c.(628-630)Ggc>Agc	p.G210S	NLRP11_ENST00000589824.2_Missense_Mutation_p.G210S|NLRP11_ENST00000592953.1_Missense_Mutation_p.G111S|NLRP11_ENST00000360133.3_Missense_Mutation_p.G210S|NLRP11_ENST00000589093.1_Missense_Mutation_p.G210S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	210	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGAGCCTGGCCGTCAGGCCAG	0.488000													22	42					0	0	0.002780	0	0
IGLV3-25	28793	broad.mit.edu	37	22	23029640	23029640	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:23029640C>T	ENST00000390305.2	+	0	285																											GAGCGATTCTCTGGCTCCAGC	0.522000													25	51					0	0	0.003330	0	0
TMEM206	55248	broad.mit.edu	37	1	212538573	212538573	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:212538573G>T	ENST00000261455.4	-	8	1174	c.1037C>A	c.(1036-1038)aCg>aAg	p.T346K	TMEM206_ENST00000535273.1_Missense_Mutation_p.T407K	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	346						integral to membrane		p.T346M(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TATGTGGCTCGTTGCCTGACC	0.413000													47	66					1.32667e-27	1.48697e-27	0.003610	1	0
C7orf31	136895	broad.mit.edu	37	7	25176401	25176401	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:25176401G>A	ENST00000409280.1	-	10	1271	c.963C>T	c.(961-963)ttC>ttT	p.F321F	C7orf31_ENST00000283905.3_Silent_p.F321F			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	321										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						AGACAGGGTGGAATTTTTCTT	0.428000													57	74					0	0	0.003610	0	0
CELSR2	1952	broad.mit.edu	37	1	109795343	109795343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:109795343G>A	ENST00000271332.3	+	1	2703	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	881	Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGGCTGGATCGAGAGAACGTG	0.572000													233	142					0	0	0.003610	0	0
CACNA1C	775	broad.mit.edu	37	12	2788663	2788663	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:2788663G>A	ENST00000399655.1	+	42	5410	c.5145G>A	c.(5143-5145)cgG>cgA	p.R1715R	CACNA1C_ENST00000399591.1_Silent_p.R1723R|CACNA1C_ENST00000399621.1_Silent_p.R1734R|CACNA1C_ENST00000347598.4_Silent_p.R1763R|CACNA1C_ENST00000344100.3_Silent_p.R1756R|CACNA1C_ENST00000406454.3_Silent_p.R1715R|CACNA1C_ENST00000399606.1_Silent_p.R1735R|CACNA1C_ENST00000399603.1_Silent_p.R1715R|CACNA1C_ENST00000399637.1_Silent_p.R1734R|CACNA1C_ENST00000399595.1_Silent_p.R1723R|CACNA1C_ENST00000399638.1_Silent_p.R1743R|CACNA1C_ENST00000399649.1_Silent_p.R1721R|CACNA1C_ENST00000399634.1_Silent_p.R1715R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Silent_p.R1715R|CACNA1C_ENST00000399641.1_Silent_p.R1715R|CACNA1C_ENST00000399629.1_Silent_p.R1732R|CACNA1C_ENST00000327702.7_Silent_p.R1715R|CACNA1C_ENST00000399601.1_Silent_p.R1715R|CACNA1C_ENST00000335762.5_Silent_p.R1740R|CACNA1C_ENST00000402845.3_Silent_p.R1734R|CACNA1C_ENST00000399644.1_Silent_p.R1715R|CACNA1C_ENST00000399617.1_Silent_p.R1715R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1763					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCGACGGCCGGAGCGCCTTCC	0.652000													5	11					0	0	0.000602	0	0
CASR	846	broad.mit.edu	37	3	122003081	122003081	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:122003081C>T	ENST00000498619.1	+	7	2748	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	CASR_ENST00000296154.5_Silent_p.I760I|CASR_ENST00000490131.1_Silent_p.I760I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	760					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGATGAGATCATCTTCATCA	0.567000													17	15					0	0	0.006122	0	0
UNC13C	440279	broad.mit.edu	37	15	54527306	54527306	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:54527306G>A	ENST00000545554.1	+	4	3150	c.3150_splice	c.e4+1	p.V1050_splice	UNC13C_ENST00000537900.1_Splice_Site_p.V1050_splice|UNC13C_ENST00000260323.11_Splice_Site_p.V1050_splice			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1050					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCCGAGATGTGGTAAGTTACA	0.378000													9	31					0	0	0.008291	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695292	64695292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:64695292C>T	ENST00000164133.2	+	4	1037	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	139					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GAATATCTTCCGGACTCTGCC	0.502000													21	62					0	0	0.002299	0	0
DUSP27	92235	broad.mit.edu	37	1	167096871	167096871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:167096871G>A	ENST00000361200.2	+	6	2669	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	DUSP27_ENST00000271385.5_Missense_Mutation_p.E835K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.E835K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	835					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGACCTAAAGGAACTTGGCCG	0.522000													17	56					0	0	0.004990	0	0
CABS1	85438	broad.mit.edu	37	4	71201163	71201163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:71201163C>T	ENST00000273936.4	+	1	466	c.407C>T	c.(406-408)tCc>tTc	p.S136F		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	136						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATAGATTTTTCCACTGACATA	0.383000													21	29					0	0	0.001882	0	0
MACF1	23499	broad.mit.edu	37	1	39926464	39926464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:39926464C>T	ENST00000564288.1	+	92	22298	c.21521C>T	c.(21520-21522)tCc>tTc	p.S7174F	MACF1_ENST00000361689.2_Missense_Mutation_p.S5115F|MACF1_ENST00000289893.4_Missense_Mutation_p.S5617F|MACF1_ENST00000539005.1_Missense_Mutation_p.S4985F|MACF1_ENST00000545844.1_Missense_Mutation_p.S5115F|MACF1_ENST00000372915.3_Missense_Mutation_p.S7073F|MACF1_ENST00000317713.7_Missense_Mutation_p.S5115F|MACF1_ENST00000567887.1_Missense_Mutation_p.S7211F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7073	C-terminal tail (By similarity).|GAR.				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)			ATTTTAGCATCCAGTGAGTCT	0.438000													34	121					0	0	0.003755	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759037	121759037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:121759037C>T	ENST00000261367.7	+	6	2174	c.746C>T	c.(745-747)tCc>tTc	p.S249F	SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S202F|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S202F|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S249F|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.S249F			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	202					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGCTCATCATCCAACATGGCA	0.463000													15	73					0	0	0.004990	0	0
FAM83H	286077	broad.mit.edu	37	8	144812352	144812352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:144812352G>A	ENST00000388913.3	-	2	526	c.401C>T	c.(400-402)cCc>cTc	p.P134L		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	134					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTGATACTGGGGCTGTCGGG	0.667000													12	14					0	0	0.001368	0	0
RP11-386G11.10	0	broad.mit.edu	37	12	49525184	49525184	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:49525184G>A	ENST00000547712.1	+	0	211																											GCACTAGGGCGGGGCCGGCGC	0.701000													4	5					0	0	0.000248	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957327	35957327	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:35957327C>T	ENST00000274278.3	-	5	1395	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Silent_p.V312V|UGT3A1_ENST00000503189.1_Silent_p.V346V	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	346						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGTGG	0.488000													16	33					0	0	0.006122	0	0
CCP110	9738	broad.mit.edu	37	16	19539282	19539282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:19539282C>T	ENST00000396212.2	+	3	515	c.79C>T	c.(79-81)Cct>Tct	p.P27S	CCP110_ENST00000396208.2_Missense_Mutation_p.P27S|CCP110_ENST00000381396.5_Missense_Mutation_p.P27S	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	27	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GAGCTTTCTCCCTGCTCAGTC	0.403000													20	26					0	0	0.001523	0	0
ITGAL	3683	broad.mit.edu	37	16	30518177	30518177	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:30518177G>A	ENST00000356798.6	+	21	2688	c.2508_splice	c.e21+1	p.K836_splice	ITGAL_ENST00000358164.5_Splice_Site_p.K752_splice|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	836					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGATGCTGAAGGTGGGTGAGA	0.612000													28	74					0	0	0.004656	0	0
TTC31	64427	broad.mit.edu	37	2	74717502	74717502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:74717502C>T	ENST00000410003.1	+	4	373	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	TTC31_ENST00000233623.5_Missense_Mutation_p.P122S|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_5'UTR			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	122							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGAGTCTGAGCCCTGCCCTCA	0.602000													23	17					0	0	0.003330	0	0
CACNA1A	773	broad.mit.edu	37	19	13418658	13418658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:13418658C>T	ENST00000360228.5	-	15	1923	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D643N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	643					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTCCCTTCATCGAAATTAAAC	0.547000													20	49					0	0	0.002299	0	0
POM121L12	285877	broad.mit.edu	37	7	53103675	53103675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:53103675G>A	ENST00000408890.4	+	1	327	c.311G>A	c.(310-312)gGg>gAg	p.G104E		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	104										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCCTTCCCGGGGAGACCGCT	0.721000													12	16					0	0	0.004007	0	0
ABCA12	26154	broad.mit.edu	37	2	215928919	215928919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:215928919G>A	ENST00000272895.7	-	3	406	c.187C>T	c.(187-189)Cct>Tct	p.P63S		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	63					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAGTACTAGGAAGGTTTCGA	0.423000													26	27					0	0	0.003954	0	0
LRPPRC	10128	broad.mit.edu	37	2	44153096	44153096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:44153096G>A	ENST00000260665.7	-	26	2798	c.2741C>T	c.(2740-2742)cCa>cTa	p.P914L		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	914					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTAATCCCTGGAGTCTGTAA	0.363000													103	161					0	0	0.003610	0	0
ZIM2	23619	broad.mit.edu	37	19	57286165	57286165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57286165C>T	ENST00000391708.3	-	12	2017	c.1475G>A	c.(1474-1476)aGg>aAg	p.R492K	AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R492K|ZIM2_ENST00000601070.1_Missense_Mutation_p.R492K|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R492K|ZIM2_ENST00000221722.5_Missense_Mutation_p.R492K|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTGGTAAGGCCTCTCTTGAGT	0.463000													11	43					0	0	0.000978	0	0
KCNC2	3747	broad.mit.edu	37	12	75434972	75434972	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:75434972A>G	ENST00000341669.3	-	5	2338	c.1795T>C	c.(1795-1797)Tat>Cat	p.Y599H	KCNC2_ENST00000550433.1_Missense_Mutation_p.Y599H|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000549446.1_3'UTR|KCNC2_ENST00000548513.1_3'UTR|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000350228.2_3'UTR|KCNC2_ENST00000298972.1_3'UTR|RP11-81K13.1_ENST00000550049.1_RNA	NM_001260498.1	NP_001247427.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	0					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AATCCATGATAAATTCTGTAC	0.378000													15	48					0	0	0.004007	0	0
CNOT6L	246175	broad.mit.edu	37	4	78650094	78650094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:78650094G>A	ENST00000504123.1	-	10	1296	c.1166C>T	c.(1165-1167)gCc>gTc	p.A389V	CNOT6L_ENST00000264903.4_Missense_Mutation_p.A389V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	389					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CCTACTAGAGGCTTTCTCCAG	0.453000													59	103					0	0	0.003610	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378858	92378858	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:92378858C>T	ENST00000276609.3	+	14	1778	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	SLC26A7_ENST00000309536.2_Silent_p.F513F|SLC26A7_ENST00000523719.1_Silent_p.F513F|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	513	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.F513F(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CGCTTGTTTTCCTGAATGCAA	0.353000													19	55					0	0	0.007413	0	0
DMXL1	1657	broad.mit.edu	37	5	118484798	118484798	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:118484798C>T	ENST00000311085.8	+	18	3356	c.3276C>T	c.(3274-3276)gtC>gtT	p.V1092V	DMXL1_ENST00000539542.1_Silent_p.V1092V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1092										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATGTTGGGTCCTTGAGCAGA	0.373000													51	71					0	0	0.003610	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138808	126138808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:126138808G>A	ENST00000299308.3	+	9	2797	c.2789G>A	c.(2788-2790)aGg>aAg	p.R930K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R442K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	930						integral to membrane		p.R930M(1)|p.R930T(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGACACAAAAGGTTTGCTGTG	0.502000													49	80					0	0	0.003610	0	0
PTCHD1	139411	broad.mit.edu	37	X	23412060	23412060	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:23412060C>T	ENST00000379361.4	+	3	3285	c.2425C>T	c.(2425-2427)Ctg>Ttg	p.L809L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	809					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TATTGTTGGTCTGATTCCTCT	0.413000													41	9					0	0	0.006230	0	0
ABCA4	24	broad.mit.edu	37	1	94471034	94471034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:94471034G>A	ENST00000370225.3	-	44	6196	c.6110C>T	c.(6109-6111)gCc>gTc	p.A2037V	ABCA4_ENST00000535881.1_Missense_Mutation_p.A156V|ABCA4_ENST00000536513.1_Missense_Mutation_p.A307V|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2037	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCGAAGCCGGGCATAAAGGTA	0.418000													23	63					0	0	0.003330	0	0
ERV3-1	2086	broad.mit.edu	37	7	64453116	64453116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:64453116C>T	ENST00000394323.2	-	2	789	c.289G>A	c.(289-291)Ggg>Agg	p.G97R		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		97						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						tcctttgacccgacatgaatt	0.473000													14	28					0	0	0.002450	0	0
CNOT6L	246175	broad.mit.edu	37	4	78650093	78650093	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:78650093G>A	ENST00000504123.1	-	10	1297	c.1167C>T	c.(1165-1167)gcC>gcT	p.A389A	CNOT6L_ENST00000264903.4_Silent_p.A389A			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	389					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GCCTACTAGAGGCTTTCTCCA	0.448000													59	105					0	0	0.003610	0	0
ATAD3A	55210	broad.mit.edu	37	1	1455661	1455661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:1455661C>T	ENST00000378755.5	+	6	893	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	ATAD3A_ENST00000536055.1_Missense_Mutation_p.R140C|ATAD3A_ENST00000378756.3_Missense_Mutation_p.R219C	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	267							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GGCCGAGCACCGTCAGACCGT	0.701000													29	71					0	0	0.004878	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212709	149212709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:149212709C>T	ENST00000309241.5	+	5	1105	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P319L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P358L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P294L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	358					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTCAGCAAACCCTACCGTCTG	0.632000													18	52					0	0	0.006122	0	0
RNF145	153830	broad.mit.edu	37	5	158588447	158588447	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:158588447T>A	ENST00000424310.2	-	10	1812	c.1453A>T	c.(1453-1455)Atg>Ttg	p.M485L	RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000519865.1_Missense_Mutation_p.M485L|RNF145_ENST00000520638.1_Missense_Mutation_p.M499L|RNF145_ENST00000274542.2_Missense_Mutation_p.M513L|RNF145_ENST00000518802.1_Missense_Mutation_p.M515L|RNF145_ENST00000521606.2_Missense_Mutation_p.M502L	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	485						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTGAGCCCATCACTGTCCAT	0.512000													19	43					0	0	0.007413	0	0
COL1A1	1277	broad.mit.edu	37	17	48266534	48266534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:48266534G>A	ENST00000225964.5	-	40	3050	c.2932C>T	c.(2932-2934)Ccc>Tcc	p.P978S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	978	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTTACAGAGGGGCCAGGAAGA	0.602000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						22	22					0	0	0.001882	0	0
PKHD1	5314	broad.mit.edu	37	6	51934295	51934295	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:51934295G>A	ENST00000371117.3	-	11	1013	c.738C>T	c.(736-738)atC>atT	p.I246I	PKHD1_ENST00000340994.4_Silent_p.I246I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	246					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTTAGCACTGATCAGCCATG	0.453000													81	134					0	0	0.003610	0	0
CPA2	1358	broad.mit.edu	37	7	129909541	129909541	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:129909541G>A	ENST00000222481.4	+	3	241	c.186G>A	c.(184-186)ggG>ggA	p.G62G		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	62					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCACCCCAGGGGAGACAGCCC	0.507000													10	59					0	0	0.000978	0	0
OR52B2	255725	broad.mit.edu	37	11	6190816	6190816	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6190816G>A	ENST00000530810.1	-	1	822	c.741C>T	c.(739-741)ctC>ctT	p.L247L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L247L(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGACACAGAGGTGGGAGC	0.488000													30	43					0	0	0.008361	0	0
CUL2	8453	broad.mit.edu	37	10	35324198	35324198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:35324198G>A	ENST00000374748.1	-	11	1217	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	CUL2_ENST00000374751.3_Missense_Mutation_p.R302C|CUL2_ENST00000602371.1_Missense_Mutation_p.R245C|CUL2_ENST00000374746.1_Missense_Mutation_p.R302C|CUL2_ENST00000374749.3_Missense_Mutation_p.R302C|CUL2_ENST00000374742.1_Missense_Mutation_p.R302C|CUL2_ENST00000537177.1_Missense_Mutation_p.R321C			Q13617	CUL2_HUMAN	cullin 2	302					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						GACACAGCACGGAGTAAGACG	0.428000													8	18					0	0	0.006214	0	0
TATDN2	9797	broad.mit.edu	37	3	10320092	10320092	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:10320092C>T	ENST00000287652.4	+	6	3142	c.2091C>T	c.(2089-2091)atC>atT	p.I697I	TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.I697I	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	697						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGAGGCAGATCCCACTGGAGA	0.592000													85	176					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32065866	32065866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32065866G>A	ENST00000375244.3	-	2	311	c.110C>T	c.(109-111)cCc>cTc	p.P37L	TNXB_ENST00000375247.2_Missense_Mutation_p.P37L|TNXB_ENST00000479795.1_Missense_Mutation_p.P37L			P22105	TENX_HUMAN	tenascin XB	37					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGGGGCCGGGGGGCTGGCAG	0.642000													186	246					0	0	0.003610	0	0
TIGD3	220359	broad.mit.edu	37	11	65124003	65124003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:65124003C>T	ENST00000309880.5	+	2	931	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	242	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CCTGGGCATCCCCTGGTTAGA	0.662000													56	61					0	0	0.003610	0	0
ADH1B	125	broad.mit.edu	37	4	100231942	100231942	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:100231942G>A	ENST00000305046.8	-	8	1150	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	ADH1B_ENST00000394887.3_Silent_p.D321D			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	361					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGTGAAGCAGGTCAAATCCTT	0.348000													21	64					0	0	0.001523	0	0
LTBP2	4053	broad.mit.edu	37	14	74970008	74970008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:74970008C>T	ENST00000261978.4	-	33	5188	c.4802G>A	c.(4801-4803)gGg>gAg	p.G1601E	LTBP2_ENST00000556690.1_Missense_Mutation_p.G1557E	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1601	TB 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGTGCGGTGCCCACGCAGGGG	0.627000													16	35					0	0	0.004990	0	0
FCGBP	8857	broad.mit.edu	37	19	40395813	40395813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:40395813C>T	ENST00000221347.6	-	15	7591	c.7584G>A	c.(7582-7584)tgG>tgA	p.W2528*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2528	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGTGACCTTCCACTGTCTCT	0.642000													31	145					0	0	0.003610	0	0
KITLG	4254	broad.mit.edu	37	12	88910131	88910131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:88910131G>A	ENST00000347404.5	-	5	1072	c.500C>T	c.(499-501)tCa>tTa	p.S167L	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.S167L|KITLG_ENST00000378535.4_5'UTR	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	167					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ACTTAATGTTGAAGAAACCAC	0.348000									Testicular Cancer, Familial Clustering of				78	134					0	0	0.003610	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100744	85100744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:85100744C>T	ENST00000566428.1	+	2	698	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	KIAA0513_ENST00000258180.3_Missense_Mutation_p.P23S|KIAA0513_ENST00000538274.1_Missense_Mutation_p.P23S|KIAA0513_ENST00000567328.1_Missense_Mutation_p.P23S			O60268	K0513_HUMAN	KIAA0513	23						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CACCTCTTCTCCCCTGGAGGC	0.647000													20	39					0	0	0.001882	0	0
MILR1	284021	broad.mit.edu	37	17	62461626	62461626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:62461626G>A	ENST00000605096.1	+	1	58	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K		NM_001085423.1	NP_001078892.1	Q7Z6M3	MILR1_HUMAN	mast cell immunoglobulin-like receptor 1	0						integral to membrane|plasma membrane											ATGGAAGTTGGAATCTATGCA	0.378000													7	16					0	0	0.003080	0	0
CFH	3075	broad.mit.edu	37	1	196695903	196695903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:196695903C>T	ENST00000367429.4	+	14	2309	c.2069C>T	c.(2068-2070)aCc>aTc	p.T690I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	690	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAGGAGAGTACCTGTGGAGAT	0.338000													19	39					0	0	0.008871	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442776	25442776	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:25442776C>T	ENST00000424208.1	+	0	1636				SNHG14_ENST00000424333.1_RNA|SNORD115-15_ENST00000364809.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.483000													113	197					0	0	0.003610	0	0
RBBP8	5932	broad.mit.edu	37	18	20564881	20564881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:20564881C>T	ENST00000399722.2	+	8	988	c.637C>T	c.(637-639)Cca>Tca	p.P213S	RBBP8_ENST00000327155.5_Missense_Mutation_p.P213S|RBBP8_ENST00000399725.2_Missense_Mutation_p.P213S|RBBP8_ENST00000585177.1_3'UTR|RBBP8_ENST00000360790.5_Missense_Mutation_p.P213S	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	213					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTCAACTCATCCACAACATAA	0.313000								Homologous recombination					20	49					0	0	0.001523	0	0
FGF3	2248	broad.mit.edu	37	11	69625426	69625426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:69625426C>T	ENST00000334134.2	-	3	457	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	123					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TAGCCCAGCTCGTGGATCCGC	0.647000													13	32					0	0	0.002450	0	0
NRG3	10718	broad.mit.edu	37	10	83635816	83635816	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:83635816C>T	ENST00000404547.1	+	1	720	c.720C>T	c.(718-720)ccC>ccT	p.P240P	NRG3_ENST00000372141.2_Silent_p.P240P			P56975	NRG3_HUMAN	neuregulin 3	240	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ATTCTACTCCCTCCTGGACCC	0.592000													9	5					0	0	0.001368	0	0
LRP1B	53353	broad.mit.edu	37	2	141680548	141680548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:141680548G>A	ENST00000389484.3	-	21	4276	c.3305C>T	c.(3304-3306)tCc>tTc	p.S1102F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1102	LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTCCAACAGGAAAACTTGGT	0.443000										TSP Lung(27;0.18)			24	39					0	0	0.003954	0	0
BANK1	55024	broad.mit.edu	37	4	102946432	102946432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:102946432G>A	ENST00000504592.1	+	13	1733	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	BANK1_ENST00000428908.1_Missense_Mutation_p.E321K|BANK1_ENST00000444316.2_Missense_Mutation_p.E424K|BANK1_ENST00000322953.4_Missense_Mutation_p.E454K|BANK1_ENST00000510950.1_3'UTR|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000508653.1_Missense_Mutation_p.E321K			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	454					B cell activation			p.E454*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGAGGCAAATGAAATGGAAGG	0.463000													44	67					0	0	0.003214	0	0
TDRD7	23424	broad.mit.edu	37	9	100245160	100245160	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:100245160C>T	ENST00000355295.4	+	15	2737	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	TDRD7_ENST00000540902.1_Silent_p.I134I|TDRD7_ENST00000492428.1_3'UTR|TDRD7_ENST00000422139.2_Silent_p.I740I	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	814					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CCAGAGGGATCGCACATGTTT	0.368000													23	21					0	0	0.005443	0	0
XIRP2	129446	broad.mit.edu	37	2	168096438	168096438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:168096438C>T	ENST00000409195.1	+	6	1021	c.932C>T	c.(931-933)tCc>tTc	p.S311F	XIRP2_ENST00000409043.1_Missense_Mutation_p.S311F|XIRP2_ENST00000409756.2_Missense_Mutation_p.S311F|XIRP2_ENST00000420519.1_Missense_Mutation_p.S344F|XIRP2_ENST00000409728.1_Missense_Mutation_p.S344F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S89F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S311F|XIRP2_ENST00000409605.1_Missense_Mutation_p.S89F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	136					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAGAAGGGTCCAAAGTACAG	0.403000													10	37					0	0	0.008291	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567772	45567772	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:45567772G>A	ENST00000256692.5	-	0	913					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAAATATAAGGAATTCTTATT	0.328000													19	30					0	0	0.006122	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755656	140755656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140755656C>T	ENST00000517434.1	+	1	2006	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGGATCCCCGACATCCTG	0.692000													28	32					0	0	0.008740	0	0
ATG2A	23130	broad.mit.edu	37	11	64668367	64668367	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:64668367G>A	ENST00000421419.2	-	30	4437	c.4323C>T	c.(4321-4323)caC>caT	p.H1441H	ATG2A_ENST00000377264.3_Silent_p.H1439H			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1439							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGTGGCCGGGGTGGGGGCCAA	0.657000													3	4					0	0	0.004672	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105464556	105464556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:105464556G>A	ENST00000258494.9	-	3	360	c.220C>T	c.(220-222)Cct>Tct	p.P74S	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	74	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGAACACAGGGGTCCCATCT	0.413000													38	69					0	0	0.007835	0	0
USP24	23358	broad.mit.edu	37	1	55559734	55559734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:55559734G>A	ENST00000294383.6	-	52	6229	c.6230C>T	c.(6229-6231)tCa>tTa	p.S2077L	USP24_ENST00000407756.1_Missense_Mutation_p.S1917L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2077					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TGACTGAGGTGAAATTTCTGG	0.433000													6	26					0	0	0.001168	0	0
ITGA4	3676	broad.mit.edu	37	2	182340013	182340013	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:182340013A>C	ENST00000397033.2	+	4	984	c.554A>C	c.(553-555)cAa>cCa	p.Q185P	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.Q185P	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	185					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCGTGTTATCAAGGTAAGGCA	0.353000													51	51					0	0	0.003610	0	0
LCT	3938	broad.mit.edu	37	2	136567040	136567040	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:136567040C>T	ENST00000264162.2	-	8	2887	c.2877G>A	c.(2875-2877)ctG>ctA	p.L959L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	959	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GATCGGCATCCAGCTGGTGAT	0.517000													25	67					0	0	0.005443	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763421	77763421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:77763421C>T	ENST00000521891.2	+	10	4712	c.4264C>T	c.(4264-4266)Cgg>Tgg	p.R1422W	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1396W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1377W|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1377W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1377						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCATGCAATTCGGGCTGCGAC	0.458000										HNSCC(33;0.089)			11	20					0	0	0.008291	0	0
SLC2A9	56606	broad.mit.edu	37	4	9828093	9828093	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:9828093C>T	ENST00000506583.1	-	14	1681	c.1464G>A	c.(1462-1464)agG>agA	p.R488R	SLC2A9_ENST00000264784.3_Silent_p.R517R|SLC2A9_ENST00000309065.3_Silent_p.R488R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	517					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATGCTTTGTTCCTTTTGGAAA	0.423000													50	99					0	0	0.003610	0	0
LILRA1	11024	broad.mit.edu	37	19	55105938	55105938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55105938G>A	ENST00000453777.1	+	3	237	c.67G>A	c.(67-69)Gca>Aca	p.A23T	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.A23T	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	23					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCACGTGCAGGCAGGTGAGTC	0.652000													26	65					0	0	0.002096	0	0
SNX19	399979	broad.mit.edu	37	11	130785161	130785161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:130785161G>A	ENST00000265909.4	-	1	1243	c.674C>T	c.(673-675)cCc>cTc	p.P225L	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.P225L	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	225	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GTGGGGCTTGGGCACCAGCCC	0.557000													18	13					0	0	0.007413	0	0
GAS2L2	246176	broad.mit.edu	37	17	34071945	34071945	+	Silent	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:34071945T>C	ENST00000254466.6	-	6	2598	c.2571A>G	c.(2569-2571)caA>caG	p.Q857Q	GAS2L2_ENST00000587565.1_Silent_p.Q841Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	857					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCTGGAGGTTGGGGGCTGC	0.602000													13	11					0	0	0.001855	0	0
PRDM9	56979	broad.mit.edu	37	5	23527680	23527680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:23527680G>A	ENST00000296682.3	+	11	2665	c.2483G>A	c.(2482-2484)gGg>gAg	p.G828E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	828					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACACAGGGGAGAAGCCC	0.582000										HNSCC(3;0.000094)			48	95					0	0	0.003610	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604873	13604873	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:13604873G>A	ENST00000040738.5	-	10	3786	c.3651C>T	c.(3649-3651)aaC>aaT	p.N1217N		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1217							DNA binding										TCTCCCCAGGGTTCATTTTGG	0.398000													86	157					0	0	0.003610	0	0
MCC	4163	broad.mit.edu	37	5	112403852	112403852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:112403852G>A	ENST00000302475.4	-	11	1947	c.1384C>T	c.(1384-1386)Ctc>Ttc	p.L462F	MCC_ENST00000515367.2_Missense_Mutation_p.L399F|MCC_ENST00000408903.3_Missense_Mutation_p.L652F|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	462					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGCGCCAGGAGGAGTTCGTAG	0.617000													9	26					0	0	0.006214	0	0
RGS6	9628	broad.mit.edu	37	14	72985220	72985220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:72985220G>A	ENST00000553530.1	+	15	1460	c.1253G>A	c.(1252-1254)gGg>gAg	p.G418E	RGS6_ENST00000402788.2_Missense_Mutation_p.G418E|RGS6_ENST00000355512.6_Missense_Mutation_p.G418E|RGS6_ENST00000404301.2_Missense_Mutation_p.G418E|RGS6_ENST00000554782.1_Missense_Mutation_p.G279E|RGS6_ENST00000343854.6_Missense_Mutation_p.G381E|RGS6_ENST00000434263.2_Missense_Mutation_p.G349E|RGS6_ENST00000406236.4_Missense_Mutation_p.G418E|RGS6_ENST00000553525.1_Missense_Mutation_p.G418E|RGS6_ENST00000407322.4_Missense_Mutation_p.G418E|RGS6_ENST00000555571.1_Missense_Mutation_p.G418E|RGS6_ENST00000556437.1_Missense_Mutation_p.G418E	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	418	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AAAGATGGAGGGAGATATACA	0.438000													19	32					0	0	0.006122	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794489	18794489	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:18794489G>A	ENST00000377428.2	+	1	120	c.30G>A	c.(28-30)aaG>aaA	p.K10K	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		ATCAACCCAAGATCAAAGCAG	0.517000													20	40					0	0	0.002299	0	0
INTU	27152	broad.mit.edu	37	4	128564862	128564862	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:128564862C>T	ENST00000335251.5	+	2	436	c.333C>T	c.(331-333)ctC>ctT	p.L111L	INTU_ENST00000296461.5_Silent_p.L111L	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	111										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AACCCAAACTCAAGCAGTTTA	0.358000													35	57					0	0	0.002445	0	0
TLR10	81793	broad.mit.edu	37	4	38775644	38775644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:38775644G>A	ENST00000308973.4	-	4	2173	c.1568C>T	c.(1567-1569)cCa>cTa	p.P523L	TLR10_ENST00000508334.1_Missense_Mutation_p.P523L|TLR10_ENST00000361424.2_Missense_Mutation_p.P523L|TLR10_ENST00000506111.1_Missense_Mutation_p.P523L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	523	LRRCT.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ACACCGGAATGGATTTCTTCC	0.393000													22	59					0	0	0.002780	0	0
CNOT6	57472	broad.mit.edu	37	5	179977003	179977003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:179977003C>T	ENST00000393356.1	+	5	609	c.185C>T	c.(184-186)tCc>tTc	p.S62F	CNOT6_ENST00000502447.1_3'UTR|CNOT6_ENST00000261951.4_Missense_Mutation_p.S62F			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	62					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		AGTGACAATTCCCTGTCCCGA	0.423000													64	65					0	0	0.003610	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166037	193166037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:193166037C>T	ENST00000342695.4	-	18	2432	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K	ATP13A4_ENST00000392443.3_Missense_Mutation_p.E685K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	704					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGAGCTCTTCCAAGACAGGT	0.403000													18	58					0	0	0.007413	0	0
KIF13A	63971	broad.mit.edu	37	6	17850608	17850608	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:17850608G>A	ENST00000378814.5	-	8	662	c.663C>T	c.(661-663)tcC>tcT	p.S221S	KIF13A_ENST00000378816.5_Silent_p.S221S|KIF13A_ENST00000378826.2_Silent_p.S221S|KIF13A_ENST00000378843.2_Silent_p.S221S|KIF13A_ENST00000259711.6_Silent_p.S221S	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	221	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ACACAGCATGGGAGCGGCTGC	0.473000													18	30					0	0	0.004990	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129205	99129205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:99129205C>T	ENST00000394170.2	+	7	2104	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.S618F|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.S618F	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	618					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAGTGAGGTCCCACCTTGTT	0.557000													16	26					0	0	0.004990	0	0
SAMD3	154075	broad.mit.edu	37	6	130535580	130535580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:130535580C>T	ENST00000532763.1	-	3	300	c.171G>A	c.(169-171)atG>atA	p.M57I	SAMD3_ENST00000437477.2_Missense_Mutation_p.M57I|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000457563.2_Missense_Mutation_p.M81I|SAMD3_ENST00000439090.2_Missense_Mutation_p.M57I|SAMD3_ENST00000368134.2_Missense_Mutation_p.M57I|SAMD3_ENST00000324172.6_Missense_Mutation_p.M57I			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	57	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TAATTAAATCCATCAGAACAG	0.458000													28	58					0	0	0.006320	0	0
SERTM1	400120	broad.mit.edu	37	13	37269247	37269247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:37269247C>T	ENST00000315190.3	+	2	478	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	11						integral to membrane											TCAGGATTTTCGGGAAGTGTG	0.473000													48	94					0	0	0.003610	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338967	13338967	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:13338967G>A	ENST00000602906.1	+	0	755																				kidney(3)|lung(1)	4						AAGCCTATTTGGACCAGAAAC	0.408000													7	29					0	0	0.001984	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536055	69536055	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:69536055G>A	ENST00000338206.5	-	1	291	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	94					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCCATCTATCGAGAATTTTCA	0.289000													30	129					0	0	0.007291	0	0
WNT2	7472	broad.mit.edu	37	7	116955221	116955221	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:116955221C>T	ENST00000265441.3	-	3	791	c.492G>A	c.(490-492)ggG>ggA	p.G164G	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	164					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CAAATTTGATCCCATAGTCAA	0.463000													54	78					0	0	0.003610	0	0
DBNDD1	79007	broad.mit.edu	37	16	90072785	90072785	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:90072785G>A	ENST00000392973.3	-	3	1184	c.453C>T	c.(451-453)gtC>gtT	p.V151V	DBNDD1_ENST00000002501.6_Silent_p.V145V|DBNDD1_ENST00000304733.3_Silent_p.V165V|DBNDD1_ENST00000568838.1_Silent_p.V265V			Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	145						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		ACGTGTCCAGGACTGTGGCCT	0.662000													12	16					0	0	0.000978	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558431	129558431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:129558431C>T	ENST00000422113.2	-	9	3615	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E635K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1097						integral to membrane		p.E1097K(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TACACATTTTCATGTAACCTC	0.493000													35	72					0	0	0.006999	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756815	56756815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56756815C>T	ENST00000326855.2	+	1	469	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AGTCTGCATCCGTTTGGTAGC	0.443000													37	49					0	0	0.004878	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71549866	71549866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:71549866C>T	ENST00000265382.3	+	13	1567	c.1262C>T	c.(1261-1263)tCa>tTa	p.S421L	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S421L	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	421						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAGGCCACTTCACAGGAGATT	0.438000													17	17					0	0	0.004990	0	0
MASP1	5648	broad.mit.edu	37	3	186953908	186953908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:186953908G>A	ENST00000296280.6	-	11	1976	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.P471L|MASP1_ENST00000495249.1_5'UTR	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	579	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGCATGTGGGGGGCCGGGCC	0.617000													17	58					0	0	0.004990	0	0
NBEA	26960	broad.mit.edu	37	13	35733926	35733926	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:35733926A>G	ENST00000400445.3	+	22	4152	c.3618A>G	c.(3616-3618)aaA>aaG	p.K1206K	NBEA_ENST00000379939.2_Silent_p.K1206K|NBEA_ENST00000540320.1_Silent_p.K1206K|NBEA_ENST00000310336.4_Silent_p.K1206K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1206						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGAAGAAAAAGAATTCAAAA	0.393000													11	16					0	0	0.008291	0	0
NCOR2	9612	broad.mit.edu	37	12	124968247	124968247	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:124968247G>A	ENST00000356219.3	-	4	461	c.306C>T	c.(304-306)ttC>ttT	p.F102F	NCOR2_ENST00000405201.1_Silent_p.F102F|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000429285.2_Silent_p.F102F|NCOR2_ENST00000397355.1_Silent_p.F102F|NCOR2_ENST00000404621.1_Silent_p.F102F	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	102					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGCTTTCAATGAACTCCATCT	0.642000													6	19					0	0	0.003080	0	0
PAGE5	90737	broad.mit.edu	37	X	55249139	55249139	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:55249139G>A	ENST00000289619.5	+	4	581	c.336G>A	c.(334-336)ggG>ggA	p.G112G	PAGE5_ENST00000374955.3_Silent_p.G92G|PAGE5_ENST00000374952.1_Silent_p.G75G	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	112										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TCAGGGAGGGGACTCTGCCCA	0.408000													67	14					0	0	0.003610	0	0
HDAC4	9759	broad.mit.edu	37	2	240085518	240085518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:240085518C>T	ENST00000345617.3	-	6	1383	c.592G>A	c.(592-594)Gac>Aac	p.D198N	HDAC4_ENST00000541256.1_Missense_Mutation_p.D167N	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	198	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase 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)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TAGCGAGGGTCGCTGGAAATG	0.562000													22	67					0	0	0.003330	0	0
ANPEP	290	broad.mit.edu	37	15	90342704	90342704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:90342704C>T	ENST00000300060.6	-	13	2219	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	636	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.E636K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CAGTTCTCTTCGTCGTAGTTC	0.587000													26	43					0	0	0.003330	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67318673	67318673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:67318673C>T	ENST00000360461.5	+	12	4285	c.1750C>T	c.(1750-1752)Ccg>Tcg	p.P584S	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P503S|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P584S|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P584S	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	584					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCAGGAACGCCCGGGGGTTGT	0.647000													8	14					0	0	0.003080	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20852565	20852565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:20852565C>T	ENST00000381552.1	+	2	423	c.55C>T	c.(55-57)Cct>Tct	p.P19S	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.P19S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P19S|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.P19S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	19					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTCAGTGCAACCTGTTGGAAG	0.373000													13	30					0	0	0.001855	0	0
CHAF1A	10036	broad.mit.edu	37	19	4429766	4429766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:4429766C>T	ENST00000301280.5	+	10	1936	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	612					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGGAGTCCCTGTCCCAC	0.542000								Chromatin Structure					45	89					0	0	0.003610	0	0
OR6C4	341418	broad.mit.edu	37	12	55945641	55945641	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:55945641C>T	ENST00000394256.2	+	1	659	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TACTCTGGTGCTGGTGACACT	0.493000													31	45					0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	9048675	9048675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9048675C>T	ENST00000397910.4	-	5	33159	c.32956G>A	c.(32956-32958)Gga>Aga	p.G10986R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10988	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						GTCACCATTCCTGGTACCTCA	0.493000													29	48					0	0	0.006320	0	0
CPNE6	9362	broad.mit.edu	37	14	24543814	24543814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:24543814G>A	ENST00000397016.2	+	7	884	c.573G>A	c.(571-573)tgG>tgA	p.W191*	CPNE6_ENST00000537691.1_Nonsense_Mutation_p.W246*|CPNE6_ENST00000216775.2_Nonsense_Mutation_p.W191*			O95741	CPNE6_HUMAN	copine VI (neuronal)	191	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		AGCTGGTCTGGAGAACTGAGG	0.517000													15	72					0	0	0.002450	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792215	137792215	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:137792215G>A	ENST00000242375.3	+	7	786	c.744G>A	c.(742-744)ggG>ggA	p.G248G	AKR1D1_ENST00000432161.1_Silent_p.G248G|AKR1D1_ENST00000411726.2_Silent_p.G207G|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	248					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACTCATTGGGGAAAAGGTACA	0.363000													31	46					0	0	0.003755	0	0
GLT8D2	83468	broad.mit.edu	37	12	104408855	104408855	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:104408855G>A	ENST00000360814.4	-	4	453	c.48C>T	c.(46-48)atC>atT	p.I16I	GLT8D2_ENST00000548660.1_Silent_p.I16I|GLT8D2_ENST00000547583.1_Silent_p.I16I|GLT8D2_ENST00000546436.1_Silent_p.I16I	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	16						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AGAGGGTCACGATCAGAAGGA	0.418000													11	24					0	0	0.001368	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077104	45077104	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:45077104C>T	ENST00000296130.4	+	3	477	c.297C>T	c.(295-297)atC>atT	p.I99I	CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Silent_p.I57I	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	99	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGACTGCATCTCGCGCGGGG	0.642000													18	38					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179454575	179454575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179454575C>T	ENST00000589042.1	-	304	62101	c.61877G>A	c.(61876-61878)cGa>cAa	p.R20626Q	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11686Q|TTN_ENST00000342175.6_Missense_Mutation_p.R11753Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18985Q|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18058Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11561Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18985							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R18056Q(1)|p.R11686Q(1)|p.R11753Q(1)|p.R11561Q(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)			CTTGATTAATCGTTTAGTGAC	0.398000													51	68					0	0	0.003610	0	0
FOSL2	2355	broad.mit.edu	37	2	28627159	28627159	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:28627159C>T	ENST00000264716.4	+	2	1151	c.288C>T	c.(286-288)gcC>gcT	p.A96A	FOSL2_ENST00000545753.1_Silent_p.A57A|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Silent_p.A71A	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	96					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GACACATGGCCCTCCCAAGAC	0.637000													32	85					0	0	0.005524	0	0
MYOCD	93649	broad.mit.edu	37	17	12666806	12666806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:12666806G>A	ENST00000425538.1	+	14	3006	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	MYOCD_ENST00000343344.4_Missense_Mutation_p.E888K|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	888					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATCTCCCTGGGAAACCATGGA	0.547000													17	13					0	0	0.004990	0	0
CACNG3	10368	broad.mit.edu	37	16	24372902	24372902	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:24372902C>T	ENST00000005284.3	+	4	1868	c.666C>T	c.(664-666)gcC>gcT	p.A222A		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	222					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTACTTTTGCCCGCCTCCCAC	0.527000													12	46					0	0	0.001368	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787164	73787164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:73787164G>A	ENST00000342056.2	+	4	1134	c.736G>A	c.(736-738)Gac>Aac	p.D246N	KCNQ5_ENST00000370392.1_Missense_Mutation_p.D246N|KCNQ5_ENST00000355635.3_Missense_Mutation_p.D246N|KCNQ5_ENST00000402622.2_Missense_Mutation_p.D246N|KCNQ5_ENST00000414165.2_Missense_Mutation_p.D246N|KCNQ5_ENST00000403813.2_Missense_Mutation_p.D246N|KCNQ5_ENST00000370398.1_Missense_Mutation_p.D246N|KCNQ5_ENST00000355194.4_Missense_Mutation_p.D246N	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	246					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGTGCGCATGGACCGAAGGGG	0.428000													12	29					0	0	0.001855	0	0
NIM1K	167359	broad.mit.edu	37	5	43246072	43246072	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:43246072C>T	ENST00000512796.1	+	2	1694	c.195C>T	c.(193-195)atC>atT	p.I65I	NIM1_ENST00000326035.2_Silent_p.I65I			Q8IY84	NIM1_HUMAN		65							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TGAGGGAGATCACGCTGGGGA	0.547000													42	44					0	0	0.008740	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927293	35927293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:35927293C>T	ENST00000490799.1	-	16	2160	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	SLC26A8_ENST00000355574.2_Missense_Mutation_p.G603R|SLC26A8_ENST00000394602.2_Missense_Mutation_p.G498R	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	603	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ATCTTTCCTCCTTGTAGATTG	0.398000													17	89					0	0	0.007413	0	0
CFH	3075	broad.mit.edu	37	1	196654220	196654220	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:196654220C>A	ENST00000367429.4	+	7	1057	c.817C>A	c.(817-819)Cca>Aca	p.P273T	CFH_ENST00000439155.2_Missense_Mutation_p.P273T|CFH_ENST00000359637.2_Missense_Mutation_p.P209T	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	273	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCCTTATATTCCAAATGGTGA	0.313000													15	93					6.31663e-08	6.99575e-08	0.003163	1	0
SCN9A	6335	broad.mit.edu	37	2	167083152	167083152	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:167083152G>A	ENST00000303354.6	-	24	4666	c.4326C>T	c.(4324-4326)atC>atT	p.I1442I	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.I1442I|SCN9A_ENST00000409672.1_Silent_p.I1430I|SCN9A_ENST00000409435.1_Silent_p.I1441I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1441						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACCCAAAGATGATAAAGACGA	0.289000													3	10					0	0	0.004672	0	0
CPA6	57094	broad.mit.edu	37	8	68396080	68396080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:68396080C>T	ENST00000297770.4	-	8	976	c.761G>A	c.(760-762)aGa>aAa	p.R254K	CPA6_ENST00000297769.4_Missense_Mutation_p.R106K|CPA6_ENST00000518549.1_Missense_Mutation_p.R254K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	254					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CCTTGTTTTTCTCCAAAATCG	0.398000													32	99					0	0	0.002445	0	0
HSD17B14	51171	broad.mit.edu	37	19	49334994	49334994	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:49334994C>T	ENST00000263278.4	-	5	566	c.300G>A	c.(298-300)gaG>gaA	p.E100E	HSD17B14_ENST00000599157.1_Intron	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	100					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity	p.E100D(1)		large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CAGAGGTCTCCTCAGGCCTCT	0.632000													35	46					0	0	0.005524	0	0
SEMA4G	57715	broad.mit.edu	37	10	102740680	102740680	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:102740680C>T	ENST00000210633.3	+	12	1647	c.1569C>T	c.(1567-1569)ccC>ccT	p.P523P	MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Silent_p.P523P|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.P523P			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	523	PSI.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCCGAGACCCCTACTGTGGCT	0.632000													58	61					0	0	0.003610	0	0
NYAP2	57624	broad.mit.edu	37	2	226447051	226447051	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:226447051C>T	ENST00000272907.6	+	4	1331	c.918C>T	c.(916-918)ttC>ttT	p.F306F	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	306																	ACTTGGACTTCGCCAAGGCCT	0.587000													11	48					0	0	0.008291	0	0
F2RL3	9002	broad.mit.edu	37	19	17001318	17001318	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:17001318G>A	ENST00000248076.3	+	2	1374	c.1044G>A	c.(1042-1044)agG>agA	p.R348R		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	348					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCGAGTTCAGGGACAAGGTGC	0.667000													6	18					0	0	0.001984	0	0
SNCB	6620	broad.mit.edu	37	5	176053763	176053763	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:176053763C>T	ENST00000310112.3	-	4	372		c.e4-1		SNCB_ENST00000393693.2_Splice_Site|SNCB_ENST00000506696.1_Splice_Site|SNCB_ENST00000510387.1_Splice_Site	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta								calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCTTGCTTCCTGCAGGGAGA	0.577000													25	26					0	0	0.005443	0	0
FOXN1	8456	broad.mit.edu	37	17	26850995	26850995	+	Missense_Mutation	SNP	C	C	T	rs146091703		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:26850995C>T	ENST00000226247.2	+	1	37	c.8C>T	c.(7-9)tCg>tTg	p.S3L	FOXN1_ENST00000579795.1_Missense_Mutation_p.S3L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	3					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GTGATGGTGTCGCTACCCCCG	0.672000													8	27					0	0	0.004482	0	0
PDE6A	5145	broad.mit.edu	37	5	149263002	149263002	+	Missense_Mutation	SNP	C	C	T	rs148637474		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:149263002C>T	ENST00000255266.5	-	17	2244	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	709					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATAACGATTTCCTTCCGTGTC	0.483000													11	13					0	0	0.000978	0	0
UGT2A2	574537	broad.mit.edu	37	4	70504957	70504957	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70504957G>A	ENST00000457664.2	-	1	401	c.402C>T	c.(400-402)ctC>ctT	p.L134L	UGT2A1_ENST00000514019.1_Silent_p.L335L|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron	NM_001105677.2	NP_001099147.2																					CACCATCACAGAGTTGTATGT	0.403000													36	50					0	0	0.003271	0	0
WBSCR17	64409	broad.mit.edu	37	7	70597851	70597851	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:70597851C>T	ENST00000333538.5	+	1	697	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	21						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAGCCGGCTTCGTGCTCTTCC	0.672000													9	22					0	0	0.004482	0	0
PABPC5	140886	broad.mit.edu	37	X	90691564	90691564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:90691564C>T	ENST00000312600.3	+	2	1202	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	PABPC5_ENST00000373105.1_Missense_Mutation_p.R166W	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	330	RRM 4.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GTCAATTAGTCGGGCCAAAGT	0.453000													31	10					0	0	0.002445	0	0
TTN	7273	broad.mit.edu	37	2	179616309	179616309	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179616309A>G	ENST00000360870.5	-	46	11040	c.10818T>C	c.(10816-10818)taT>taC	p.Y3606Y	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3601							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)			GAAATTCTAAATATTTCTCAT	0.388000													51	81					0	0	0.003610	0	0
PKLR	5313	broad.mit.edu	37	1	155264092	155264092	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:155264092G>A	ENST00000392414.3	-	7	1070	c.957C>T	c.(955-957)ttC>ttT	p.F319F	PKLR_ENST00000342741.4_Silent_p.F350F	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	350					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TCTGAGCCAGGAAAACCTTCT	0.572000													9	47					0	0	0.004482	0	0
PHACTR1	221692	broad.mit.edu	37	6	13228132	13228132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:13228132G>A	ENST00000379350.1	+	8	1200	c.1071G>A	c.(1069-1071)atG>atA	p.M357I	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.M212I|PHACTR1_ENST00000332995.7_Missense_Mutation_p.M357I			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	357						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAGGACCTATGGGCCTTCCAG	0.488000													252	466					0	0	0.003610	0	0
C12orf50	160419	broad.mit.edu	37	12	88390364	88390364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:88390364C>T	ENST00000298699.2	-	5	529	c.349G>A	c.(349-351)Gag>Aag	p.E117K	C12orf50_ENST00000550553.1_Missense_Mutation_p.E117K	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	117										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TAACACATCTCCTTTATTGCT	0.284000													15	32					0	0	0.003163	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561251	145561251	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:145561251G>A	ENST00000355594.4	+	10	1026	c.939G>A	c.(937-939)gaG>gaA	p.E313E		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	313										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCGGCTGGAGCAGGAGCTGG	0.557000													8	12					0	0	0.003080	0	0
FAM179A	165186	broad.mit.edu	37	2	29259493	29259493	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:29259493C>T	ENST00000379558.4	+	18	2856	c.2505C>T	c.(2503-2505)ccC>ccT	p.P835P	FAM179A_ENST00000403861.2_Silent_p.P780P|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	835							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGATGATCCCCCTCCTCAGAG	0.512000													21	25					0	0	0.001523	0	0
MMP24	10893	broad.mit.edu	37	20	33855020	33855020	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:33855020A>T	ENST00000246186.6	+	6	1077	c.992A>T	c.(991-993)gAg>gTg	p.E331V	MMP24-AS1_ENST00000453892.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	331					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCCCAGCCGAGCCTCTGGAG	0.662000													6	8					0	0	0.001168	0	0
MC5R	4161	broad.mit.edu	37	18	13826435	13826435	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:13826435G>A	ENST00000324750.3	+	1	893	c.671G>A	c.(670-672)gGg>gAg	p.G224E		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	224				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCTCTGCCCGGGGCCAGCTCT	0.617000													41	134					0	0	0.007835	0	0
USP33	23032	broad.mit.edu	37	1	78191401	78191401	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:78191401G>A	ENST00000370793.1	-	12	1621	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	USP33_ENST00000357428.1_Silent_p.I425I|USP33_ENST00000370794.3_Silent_p.I394I|USP33_ENST00000370792.3_Silent_p.I425I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	425					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTGATGGAAGGATCTGTGGTG	0.368000													22	30					0	0	0.002299	0	0
KLF12	11278	broad.mit.edu	37	13	74420350	74420350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:74420350G>A	ENST00000377669.2	-	3	310	c.284C>T	c.(283-285)gCc>gTc	p.A95V	KLF12_ENST00000377666.4_Missense_Mutation_p.A95V|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	95					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GGATGAAACGGCAGTAGGGGA	0.507000													37	61					0	0	0.006999	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21771647	21771647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21771647G>A	ENST00000206660.6	+	5	745	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E249K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E222K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E222K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	249					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GCCTAAAGATGAAAATTTTGA	0.473000													10	68					0	0	0.008291	0	0
GRB7	2886	broad.mit.edu	37	17	37898921	37898921	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:37898921C>T	ENST00000309156.4	+	3	515	c.258C>T	c.(256-258)ggC>ggT	p.G86G	GRB7_ENST00000309185.3_Silent_p.G86G|GRB7_ENST00000394211.3_Silent_p.G86G|GRB7_ENST00000394204.1_Silent_p.G86G|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Silent_p.G109G|GRB7_ENST00000394209.2_Silent_p.G86G	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	86					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCTCGGGGGCCCCTCCAGTG	0.652000													46	68					0	0	0.003610	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128967	197128967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:197128967G>A	ENST00000367405.4	-	10	2320	c.2252C>T	c.(2251-2253)tCt>tTt	p.S751F	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	751					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ATCATCAGGAGATTTTATTTC	0.378000													42	98					0	0	0.002522	0	0
ORC1	4998	broad.mit.edu	37	1	52861988	52861988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:52861988C>T	ENST00000371568.3	-	5	669	c.451G>A	c.(451-453)Gag>Aag	p.E151K	ORC1_ENST00000371566.1_Missense_Mutation_p.E151K	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	151	BAH.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGTGTCTTCTCATTTTTCAGA	0.428000													40	81					0	0	0.002222	0	0
ZNF667	63934	broad.mit.edu	37	19	56953341	56953341	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56953341C>T	ENST00000504904.3	-	7	1742	c.1023G>A	c.(1021-1023)agG>agA	p.R341R	ZNF667_ENST00000292069.6_Silent_p.R341R|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.R469R			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGGGTGAAATCCTATTAAATA	0.393000													40	54					0	0	0.007835	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136877	40136877	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:40136877C>T	ENST00000278198.2	-	2	2929	c.966G>A	c.(964-966)tcG>tcA	p.S322S	LRRC4C_ENST00000528697.1_Silent_p.S322S|LRRC4C_ENST00000530763.1_Silent_p.S322S|LRRC4C_ENST00000527150.1_Silent_p.S322S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	322	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.S322S(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGCTGTGTTCGAGGGGGCCA	0.493000													18	16					0	0	0.004990	0	0
LOC101928663	101928663	broad.mit.edu	37	6	25261489	25261489	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:25261489G>A	ENST00000413898.2	-	0	150																											AAGGCAAAAAGGAAAGGCACT	0.388000													6	5					0	0	0.001168	0	0
NXPE4	54827	broad.mit.edu	37	11	114442193	114442193	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:114442193G>A	ENST00000375478.3	-	6	1282	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	NXPE4_ENST00000424261.2_Silent_p.L84L	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		ACTGACTTCAGTGCTGATAAC	0.353000													76	48					0	0	0.003610	0	0
SLC5A8	160728	broad.mit.edu	37	12	101577958	101577958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:101577958C>T	ENST00000536262.2	-	8	1564	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	336					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAGGAAGTCCTGGATAATCT	0.353000													19	30					0	0	0.001882	0	0
ACTN1	87	broad.mit.edu	37	14	69369207	69369207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:69369207G>A	ENST00000193403.6	-	8	1132	c.749C>T	c.(748-750)tCt>tTt	p.S250F	ACTN1_ENST00000538545.2_Missense_Mutation_p.S250F|ACTN1_ENST00000438964.2_Missense_Mutation_p.S250F|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000394419.4_Missense_Mutation_p.S250F|ACTN1_ENST00000376839.3_Missense_Mutation_p.S185F	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	250					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTGGGCTCCAGAGAAGGCGTG	0.577000													44	97					0	0	0.003610	0	0
SOGA1	140710	broad.mit.edu	37	20	35422872	35422872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:35422872C>T	ENST00000237536.4	-	14	3954	c.3613G>A	c.(3613-3615)Ggg>Agg	p.G1205R	SOGA1_ENST00000279034.5_Missense_Mutation_p.G967R|SOGA1_ENST00000456801.2_Missense_Mutation_p.G808R|SOGA1_ENST00000357779.3_Missense_Mutation_p.G967R	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	967										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCTGGATCCCCTGGCTCGGAG	0.612000													30	55					0	0	0.007291	0	0
CDH9	1007	broad.mit.edu	37	5	26915930	26915930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:26915930G>A	ENST00000231021.4	-	3	503	c.331C>T	c.(331-333)Cat>Tat	p.H111Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	111	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGCAGCATGAATGTCTCCT	0.413000													62	98					0	0	0.003610	0	0
TNIK	23043	broad.mit.edu	37	3	170805181	170805181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:170805181C>T	ENST00000436636.2	-	24	3180	c.2836G>A	c.(2836-2838)Gga>Aga	p.G946R	TNIK_ENST00000475336.1_Missense_Mutation_p.G854R|TNIK_ENST00000460047.1_Missense_Mutation_p.G883R|TNIK_ENST00000284483.8_Missense_Mutation_p.G938R|TNIK_ENST00000357327.5_Missense_Mutation_p.G917R|TNIK_ENST00000341852.6_Missense_Mutation_p.G862R|TNIK_ENST00000369326.5_Missense_Mutation_p.G924R|TNIK_ENST00000488470.1_Missense_Mutation_p.G891R|TNIK_ENST00000538048.1_Missense_Mutation_p.G898R|TNIK_ENST00000470834.1_Missense_Mutation_p.G909R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	946	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CGCCCCAGTCCCTCAGTCGGG	0.592000													24	71					0	0	0.002299	0	0
CSTF1	1477	broad.mit.edu	37	20	54972518	54972518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:54972518C>T	ENST00000217109.4	+	3	777	c.425C>T	c.(424-426)gCc>gTc	p.A142V	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	142					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			AGGATGTTGGCCAAAAGTGCC	0.408000													28	46					0	0	0.002096	0	0
NXPE4	54827	broad.mit.edu	37	11	114453477	114453477	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:114453477C>T	ENST00000375478.3	-	3	543	c.363G>A	c.(361-363)ctG>ctA	p.L121L	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		CCCTCACCTCCAGCAGGATGT	0.597000													28	24					0	0	0.005443	0	0
SNAP91	9892	broad.mit.edu	37	6	84270612	84270612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:84270612C>T	ENST00000428679.2	-	27	3090	c.2497G>A	c.(2497-2499)Gtt>Att	p.V833I	SNAP91_ENST00000521743.1_Missense_Mutation_p.V833I|SNAP91_ENST00000437520.1_Missense_Mutation_p.V526I|SNAP91_ENST00000521485.1_Missense_Mutation_p.V828I|SNAP91_ENST00000439399.2_Missense_Mutation_p.V833I|SNAP91_ENST00000369694.2_Missense_Mutation_p.V833I|SNAP91_ENST00000195649.6_Missense_Mutation_p.V828I|SNAP91_ENST00000520213.1_Missense_Mutation_p.V526I|SNAP91_ENST00000520302.1_Missense_Mutation_p.V803I			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	833	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGTTGTCCAACCGATGGGGCC	0.418000													16	34					0	0	0.006122	0	0
USP39	10713	broad.mit.edu	37	2	85866462	85866462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:85866462C>T	ENST00000323701.6	+	9	1242	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	USP39_ENST00000409766.3_Missense_Mutation_p.P411L|USP39_ENST00000409470.1_Missense_Mutation_p.P411L|USP39_ENST00000409025.1_Missense_Mutation_p.P411L|USP39_ENST00000450066.2_Missense_Mutation_p.P308L|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	411					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CTCATCATTCCCCAAGTGCCA	0.522000													19	28					0	0	0.008871	0	0
OSBP	5007	broad.mit.edu	37	11	59345628	59345628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:59345628G>A	ENST00000263847.1	-	12	2533	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	685					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCACGGTAAAGGATTCCTTTT	0.478000													22	63					0	0	0.003330	0	0
SLC12A1	6557	broad.mit.edu	37	15	48513143	48513143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:48513143G>A	ENST00000396577.3	+	4	793	c.578G>A	c.(577-579)gGa>gAa	p.G193E	SLC12A1_ENST00000380993.3_Missense_Mutation_p.G193E|SLC12A1_ENST00000558405.1_Missense_Mutation_p.G193E|SLC12A1_ENST00000330289.6_Missense_Mutation_p.G193E|SLC12A1_ENST00000561031.1_Missense_Mutation_p.G193E	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	193					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AACATCTGGGGAGTCATGCTC	0.433000													50	81					0	0	0.003610	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237582	30237582	+	Silent	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:30237582A>T	ENST00000378988.4	+	2	986	c.885A>T	c.(883-885)gtA>gtT	p.V295V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	295	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGGCCAAGGTAAATGGTACCA	0.527000													14	5					0	0	0.001855	0	0
MDN1	23195	broad.mit.edu	37	6	90433234	90433234	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:90433234G>A	ENST00000369393.3	-	39	5890	c.5775C>T	c.(5773-5775)aaC>aaT	p.N1925N	MDN1_ENST00000428876.1_Silent_p.N1925N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1925					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TACTTACTTGGTTATTGAAAG	0.338000													5	32					0	0	0.000602	0	0
TRIM13	10206	broad.mit.edu	37	13	50586631	50586631	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:50586631T>A	ENST00000378182.3	+	2	1293	c.555T>A	c.(553-555)ttT>ttA	p.F185L	TRIM13_ENST00000298772.5_Missense_Mutation_p.F188L|TRIM13_ENST00000457662.2_Missense_Mutation_p.F185L|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Missense_Mutation_p.F188L|TRIM13_ENST00000420995.2_Missense_Mutation_p.F185L	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	185					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TGAAGGAATTTTTTGAGAAGT	0.403000													8	21					0	0	0.004482	0	0
DPP10	57628	broad.mit.edu	37	2	116503668	116503668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:116503668C>T	ENST00000410059.1	+	10	1339	c.859C>T	c.(859-861)Caa>Taa	p.Q287*	DPP10_ENST00000409163.1_Nonsense_Mutation_p.Q237*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.Q280*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.Q291*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	287					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAGGCAGGTCAAGTGAACCC	0.333000													4	17					0	0	0.000602	0	0
ATP13A4	84239	broad.mit.edu	37	3	193130141	193130141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:193130141C>T	ENST00000342695.4	-	27	3356	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.E993K|ATP13A4_ENST00000400270.2_Missense_Mutation_p.E28K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1012					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GAGATGCTTTCATTTTGTACT	0.398000													48	151					0	0	0.003610	0	0
MDGA1	266727	broad.mit.edu	37	6	37615001	37615001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:37615001C>T	ENST00000434837.2	-	10	3172	c.1994G>A	c.(1993-1995)aGg>aAg	p.R665K	MDGA1_ENST00000510077.1_5'UTR|MDGA1_ENST00000297153.7_Missense_Mutation_p.R668K|MDGA1_ENST00000505425.1_Missense_Mutation_p.R665K	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	665	Fibronectin type-III.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTCGGGCTCCCTCTGAGTCCA	0.637000													3	4					0	0	0.000248	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769798	112769798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:112769798C>T	ENST00000390666.3	-	1	930	c.739G>A	c.(739-741)Gac>Aac	p.D247N	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	247	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TAGATGAGGTCCTTGCACTCG	0.602000													20	24					0	0	0.002299	0	0
DOK2	9046	broad.mit.edu	37	8	21766993	21766993	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:21766993G>A	ENST00000276420.4	-	5	1326	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	DOK2_ENST00000544659.1_Silent_p.L202L	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	356	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGCTGTCATAGAGGGACAGGG	0.667000													16	34					0	0	0.003163	0	0
IL21R	50615	broad.mit.edu	37	16	27460366	27460366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:27460366C>T	ENST00000337929.3	+	9	1852	c.1379C>T	c.(1378-1380)gCt>gTt	p.A460V	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.A460V|IL21R_ENST00000564089.1_Missense_Mutation_p.A460V|IL21R_ENST00000395754.4_Missense_Mutation_p.A460V	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	460					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GAGGACTGGGCTGGGGGACTG	0.667000			T	BCL6	NHL								5	40					0	0	0.001984	0	0
FGG	2266	broad.mit.edu	37	4	155530823	155530823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:155530823C>T	ENST00000404648.3	-	6	864	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	FGG_ENST00000336098.3_Missense_Mutation_p.E209K|FGG_ENST00000407946.1_Missense_Mutation_p.E217K|FGG_ENST00000405164.1_Missense_Mutation_p.E217K	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	209	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCATCGATTTCACAGTAGACT	0.388000													9	64					0	0	0.006214	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167592	27167592	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:27167592G>A	ENST00000288699.6	+	12	1667	c.1509G>A	c.(1507-1509)ggG>ggA	p.G503G	DPYSL5_ENST00000401478.1_Silent_p.G503G	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	503					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCACCCTGGGAAAAAAGAGA	0.572000													14	76					0	0	0.003163	0	0
NLRP14	338323	broad.mit.edu	37	11	7070991	7070991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7070991G>A	ENST00000299481.4	+	6	2559	c.2213G>A	c.(2212-2214)gGg>gAg	p.G738E		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	738					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GACCTAAAAGGGAGTGATATA	0.383000													48	106					0	0	0.003610	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67322075	67322075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:67322075C>T	ENST00000360461.5	+	19	5761	c.3226C>T	c.(3226-3228)Cgc>Tgc	p.R1076C	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R995C|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R1076C|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R1076C	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1076					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGCAGAAGTTCGCTCTCGGGC	0.607000													33	52					0	0	0.001786	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515810	47515810	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47515810G>A	ENST00000371901.3	+	12	1744	c.1494G>A	c.(1492-1494)ggG>ggA	p.G498G	CYP4X1_ENST00000538609.1_Silent_p.G497G	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	498						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCAAGAATGGGATGTATTTGC	0.418000													28	65					0	0	0.006320	0	0
NT5C3A	51251	broad.mit.edu	37	7	33102236	33102236	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:33102236G>T	ENST00000242210.7	-	1	173	c.97C>A	c.(97-99)Cag>Aag	p.Q33K		NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1			5'-nucleotidase, cytosolic IIIA																		AATATGTACTGAGCCAGCACC	0.697000													7	9					8.12818e-05	8.97808e-05	0.001984	1	0
DNAH9	1770	broad.mit.edu	37	17	11593453	11593453	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:11593453G>A	ENST00000262442.3	+	20	4382	c.4314G>A	c.(4312-4314)aaG>aaA	p.K1438K	DNAH9_ENST00000454412.2_Silent_p.K1438K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1438	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAACCTTAAAGGAGCTGCAGA	0.552000													13	13					0	0	0.001855	0	0
PEG10	23089	broad.mit.edu	37	7	94293171	94293171	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:94293171G>A	ENST00000482108.1	+	2	782	c.303G>A	c.(301-303)caG>caA	p.Q101Q	PEG10_ENST00000488574.1_Silent_p.Q101Q	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	101	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCCAGTGCCAGATCTTCATGG	0.572000													21	34					0	0	0.001882	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55290064	55290064	+	Splice_Site	SNP	G	G	A	rs113536578		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55290064G>A	ENST00000336077.6	+	5	705	c.664_splice	c.e5-1	p.G222_splice	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Splice_Site_p.G222_splice|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	222					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CATGTTCTAGGAAACCCTTCA	0.493000													46	31					0	0	0.003610	0	0
ZBTB2	57621	broad.mit.edu	37	6	151686700	151686700	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:151686700A>G	ENST00000325144.4	-	3	1641	c.1501T>C	c.(1501-1503)Tta>Cta	p.L501L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		ATGGAAGCTAACACTGGGTGG	0.448000													33	85					0	0	0.006230	0	0
PF4	5196	broad.mit.edu	37	4	74847220	74847220	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:74847220C>T	ENST00000296029.3	-	2	302	c.132G>A	c.(130-132)gtG>gtA	p.V44V		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	44					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	AGGTGGTCTTCACACACAGGC	0.602000													10	19					0	0	0.001368	0	0
DOC2A	8448	broad.mit.edu	37	16	30020353	30020353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:30020353C>T	ENST00000350119.4	-	5	681	c.491G>A	c.(490-492)gGg>gAg	p.G164E	DOC2A_ENST00000564979.1_Missense_Mutation_p.G164E|DOC2A_ENST00000564944.1_Missense_Mutation_p.G164E	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	164	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ATCTGTGATCCCGCTGTAAGT	0.557000													15	51					0	0	0.006122	0	0
ZNF479	90827	broad.mit.edu	37	7	57200000	57200000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:57200000C>T	ENST00000331162.4	-	2	302	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CACCATTTCTCGGCTTCCAGG	0.552000													18	42					0	0	0.001882	0	0
ADCY10	55811	broad.mit.edu	37	1	167815465	167815465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:167815465G>A	ENST00000367848.1	-	20	2695	c.2198C>T	c.(2197-2199)tCc>tTc	p.S733F	ADCY10_ENST00000545172.1_Missense_Mutation_p.S672F|ADCY10_ENST00000367851.4_Missense_Mutation_p.S825F|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	825					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATTTGGTGGGAAAGTCTCAT	0.418000													59	93					0	0	0.003610	0	0
CASZ1	54897	broad.mit.edu	37	1	10708096	10708096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:10708096G>A	ENST00000377022.3	-	16	3576	c.3259C>T	c.(3259-3261)Cct>Tct	p.P1087S	CASZ1_ENST00000344008.5_Missense_Mutation_p.P1087S|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1087	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGACCGGAGGGGACGAGGGG	0.692000													6	10					0	0	0.001168	0	0
SIM1	6492	broad.mit.edu	37	6	100896525	100896525	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:100896525G>A	ENST00000369208.3	-	7	1355	c.573C>T	c.(571-573)atC>atT	p.I191I	SIM1_ENST00000262901.4_Silent_p.I191I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	191					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGTACTGGCGGATCTTCAAGT	0.627000													14	23					0	0	0.004007	0	0
HIST1H4H	8365	broad.mit.edu	37	6	26285536	26285536	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:26285536C>T	ENST00000289352.1	-	1	226	c.192G>A	c.(190-192)gaG>gaA	p.E64E	HIST1H4H_ENST00000377727.1_Silent_p.E64E			P62805	H4_HUMAN	histone cluster 1, H4h	64			E -> Q (in a breast cancer sample; somatic mutation).		CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						GAATCACGTTCTCCAGGAACA	0.562000										HNSCC(76;0.23)			49	56					0	0	0.003610	0	0
SCAF8	22828	broad.mit.edu	37	6	155148326	155148326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:155148326C>T	ENST00000367178.3	+	18	2668	c.2092C>T	c.(2092-2094)Ccc>Tcc	p.P698S	SCAF8_ENST00000417268.1_Missense_Mutation_p.P698S|SCAF8_ENST00000367186.4_Missense_Mutation_p.P764S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	698	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GCCTCCAGTTCCCCCACCTGT	0.368000													57	101					0	0	0.003610	0	0
IL17RC	84818	broad.mit.edu	37	3	9962642	9962642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:9962642C>T	ENST00000295981.3	+	7	1042	c.824C>T	c.(823-825)cCg>cTg	p.P275L	IL17RC_ENST00000403601.3_Missense_Mutation_p.P204L|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000413608.1_Missense_Mutation_p.P204L|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000383812.4_Intron	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	275						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AACAGCATCCCGAGCTGCTGG	0.607000													16	38					0	0	0.002299	0	0
BTAF1	9044	broad.mit.edu	37	10	93770907	93770907	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:93770907G>A	ENST00000265990.6	+	29	4489	c.4181_splice	c.e29+1	p.R1394_splice	BTAF1_ENST00000544642.1_Splice_Site_p.R222_splice	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1394	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GATTTCTTTAGGTAAGaatta	0.269000													9	37					0	0	0.004482	0	0
SLC26A2	1836	broad.mit.edu	37	5	149359901	149359901	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:149359901T>A	ENST00000286298.4	+	3	1013	c.745T>A	c.(745-747)Tca>Aca	p.S249T		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	249						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTCTACCTCTCAGATGCCTT	0.423000													27	124					0	0	0.002096	0	0
ALMS1	7840	broad.mit.edu	37	2	73761968	73761968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:73761968C>T	ENST00000264448.6	+	12	9907	c.9796C>T	c.(9796-9798)Cca>Tca	p.P3266S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P3224S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3266					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTATTATTGCCATATAAGCC	0.348000													38	70					0	0	0.006999	0	0
PDPK1	5170	broad.mit.edu	37	16	2636802	2636802	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2636802C>T	ENST00000342085.4	+	11	1400	c.1251C>T	c.(1249-1251)caC>caT	p.H417H	PDPK1_ENST00000441549.3_Silent_p.H417H|PDPK1_ENST00000389224.3_Silent_p.H390H|PDPK1_ENST00000354836.5_Silent_p.H393H|PDPK1_ENST00000268673.7_Silent_p.H290H	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	417					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	p.H417H(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	AGTACATTCACGATCTGGACT	0.542000													27	74					0	0	0.008361	0	0
CCDC11	220136	broad.mit.edu	37	18	47765069	47765069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:47765069C>T	ENST00000398545.4	-	7	1337	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	407										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTTAGCTTCTCGTTGCACTAA	0.353000													16	20					0	0	0.004990	0	0
FAM63A	55793	broad.mit.edu	37	1	150975031	150975031	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:150975031G>A	ENST00000361936.5	-	3	1017	c.63C>T	c.(61-63)atC>atT	p.I21I	FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361738.6_Silent_p.I69I|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Intron	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	21							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTTTTCAGGGATGACTGCTT	0.572000													47	118					0	0	0.003610	0	0
OTOA	146183	broad.mit.edu	37	16	21709162	21709162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:21709162C>T	ENST00000388958.3	+	9	807	c.806C>T	c.(805-807)tCg>tTg	p.S269L	OTOA_ENST00000388956.4_Missense_Mutation_p.S190L|OTOA_ENST00000286149.4_Missense_Mutation_p.S269L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	269					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTTCACCTATCGTTTGAAGAA	0.348000													30	50					0	0	0.001786	0	0
ZNF737	100129842	broad.mit.edu	37	19	20736555	20736555	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:20736555C>T	ENST00000427401.4	-	2	184	c.90G>A	c.(88-90)agG>agA	p.R30R	ZNF737_ENST00000596797.1_Silent_p.R30R	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	30					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ACATCACATTCCTATATAAAT	0.393000													24	50					0	0	0.003330	0	0
LST3	0	broad.mit.edu	37	12	21205097	21205097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:21205097G>A	ENST00000381541.3	+	10	1464	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E420K|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E467K|SLCO1B3_ENST00000553473.1_Intron																							CAATTGTGATGAAAGTCAATG	0.368000													29	66					0	0	0.002445	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750280	140750280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140750280G>A	ENST00000576222.1	+	1	450	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGAATTTGAAATGGTTGC	0.433000													47	168					0	0	0.003610	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:84117513G>A	ENST00000369705.3	-	2	302	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_ENST00000543031.1_Intron|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	62					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCAGATGCTCGAAATTTTTTA	0.383000													44	67					0	0	0.003214	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531273	140531273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140531273G>A	ENST00000231136.1	+	1	1435	c.1435G>A	c.(1435-1437)Ggc>Agc	p.G479S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G343S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		479	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAGACTCAGGCATCAACGC	0.652000													71	74					0	0	0.003610	0	0
FBXO44	93611	broad.mit.edu	37	1	11715757	11715757	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:11715757G>A	ENST00000376770.1	+	2	468		c.e2+1		FBXO44_ENST00000251547.5_Intron|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376760.1_Splice_Site|FBXO44_ENST00000376768.1_Intron	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44						protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		acccctggaggtaaggcatcc	0.512000													6	2					0	0	0.001168	0	0
HOXB1	3211	broad.mit.edu	37	17	46607762	46607762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:46607762G>A	ENST00000239174.6	-	1	597	c.505C>T	c.(505-507)Cct>Tct	p.P169S	HOXB1_ENST00000577092.1_Missense_Mutation_p.P169S	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	169						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTCTGAAGGGCAGGGTGTT	0.587000													13	43					0	0	0.001855	0	0
C8B	732	broad.mit.edu	37	1	57415271	57415271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:57415271C>T	ENST00000543257.1	-	7	1231	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	C8B_ENST00000371237.4_Missense_Mutation_p.R274Q|C8B_ENST00000535057.1_Missense_Mutation_p.R212Q	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	274	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTGTTTGCCTCGATCACTTTG	0.368000													16	47					0	0	0.004990	0	0
COL6A3	1293	broad.mit.edu	37	2	238285955	238285955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:238285955C>T	ENST00000295550.4	-	7	2982	c.2530G>A	c.(2530-2532)Ggc>Agc	p.G844S	COL6A3_ENST00000392004.3_Missense_Mutation_p.G638S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G638S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G638S|COL6A3_ENST00000392003.2_Missense_Mutation_p.G437S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G643S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G644S|COL6A3_ENST00000472056.1_Missense_Mutation_p.G237S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	844	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGGCTGAGCCGTCAAAGAGG	0.498000													9	56					0	0	0.006214	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672310	44672310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:44672310G>A	ENST00000454036.1	+	10	1421	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.D426N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	449					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGACCTGAGGGATGCCCAGAA	0.597000													23	74					0	0	0.004656	0	0
RAB3IP	117177	broad.mit.edu	37	12	70194082	70194082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:70194082G>A	ENST00000550536.1	+	7	1487	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	RAB3IP_ENST00000553099.1_Missense_Mutation_p.D122N|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D122N|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D35N|RAB3IP_ENST00000483530.2_Missense_Mutation_p.D328N|RAB3IP_ENST00000362025.5_Missense_Mutation_p.D344N|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D122N|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D328N	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	344					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTACCAGGAAGATATCTTTCC	0.333000													16	25					0	0	0.003163	0	0
FAM134A	79137	broad.mit.edu	37	2	220047130	220047130	+	Missense_Mutation	SNP	C	C	T	rs145044869		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:220047130C>T	ENST00000430297.2	+	9	1547	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	471						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCACCTGTTCCCCAGGACTC	0.617000													33	42					0	0	0.003755	0	0
MYOF	26509	broad.mit.edu	37	10	95076571	95076571	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:95076571C>T	ENST00000371501.4	-	50	5721		c.e50-1		MYOF_ENST00000359263.4_Splice_Site|MYOF_ENST00000371502.4_Splice_Site|MYOF_ENST00000358334.5_Splice_Site			Q9NZM1	MYOF_HUMAN	myoferlin						blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGAAATGCTCCTAAAACAAAA	0.448000													11	33					0	0	0.000978	0	0
ASPM	259266	broad.mit.edu	37	1	197072889	197072889	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:197072889A>T	ENST00000367409.4	-	18	5748	c.5492T>A	c.(5491-5493)aTt>aAt	p.I1831N	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1831	IQ 9.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGCAGACTGAATTTTAAGAGC	0.363000													33	77					0	0	0.003271	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105386875	105386875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:105386875G>A	ENST00000369774.4	-	9	965	c.689C>T	c.(688-690)tCc>tTc	p.S230F	SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.S92F|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S97F|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S230F|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S65F			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	230					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GTTGATGTCGGAGTCATCCCG	0.607000													36	45					0	0	0.005524	0	0
HIP1	3092	broad.mit.edu	37	7	75203179	75203179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:75203179G>A	ENST00000336926.6	-	8	658	c.632C>T	c.(631-633)tCt>tTt	p.S211F	HIP1_ENST00000434438.2_Missense_Mutation_p.S211F	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	211					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CACGGACACAGAGCGGGACAT	0.562000			T	PDGFRB	CMML								20	43					0	0	0.001523	0	0
PRKG1	5592	broad.mit.edu	37	10	54041916	54041916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:54041916G>A	ENST00000373980.4	+	14	1966	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	PRKG1_ENST00000401604.2_Missense_Mutation_p.D502N|PRKG1_ENST00000373985.1_Missense_Mutation_p.D490N|PRKG1_ENST00000373975.2_Missense_Mutation_p.D220N|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	502	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTGTAAGGTTGATTTTGGCTT	0.333000													22	21					0	0	0.001882	0	0
BRINP2	57795	broad.mit.edu	37	1	177249703	177249703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:177249703C>T	ENST00000361539.4	+	8	1703	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		464						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GGCGAAGGGCCCGCGTGTGCC	0.647000													12	20					0	0	0.001368	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324538	52324538	+	Silent	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:52324538C>A	ENST00000354773.4	+	2	276	c.180C>A	c.(178-180)tcC>tcA	p.S60S	GLYCTK_ENST00000461183.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Silent_p.S60S|GLYCTK_ENST00000473032.1_Silent_p.S60S|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000436784.2_Silent_p.S60S|GLYCTK_ENST00000305690.8_Silent_p.S60S	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	60					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GGGCACTATCCTTGGACCCTG	0.622000													15	25					2.32078e-09	2.57873e-09	0.003163	1	0
NPAS2	4862	broad.mit.edu	37	2	101609814	101609814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:101609814C>T	ENST00000335681.5	+	20	2402	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	NPAS2_ENST00000542504.1_Missense_Mutation_p.A771V	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	706					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACAGGTACGCCCAGAGCCAG	0.537000													13	29					0	0	0.002450	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473843	53473843	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:53473843C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							AGGTTTGTTTCCAGCATGCCT	0.383000													42	66					0	0	0.003610	0	0
CD163L1	283316	broad.mit.edu	37	12	7586282	7586282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:7586282C>T	ENST00000313599.3	-	3	190	c.133G>A	c.(133-135)Gat>Aat	p.D45N	CD163L1_ENST00000396630.1_Missense_Mutation_p.D45N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D45N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	45						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AACTCCAAATCTGTTCCATCT	0.448000													37	51					0	0	0.004878	0	0
ACSM2B	348158	broad.mit.edu	37	16	20563565	20563565	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:20563565C>T	ENST00000329697.6	-	6	963	c.795G>A	c.(793-795)tgG>tgA	p.W265*	ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W186*|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W265*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W265*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	265					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGTTCAGTATCCAACCTGTGT	0.433000													34	126					0	0	0.002836	0	0
SGIP1	84251	broad.mit.edu	37	1	67147764	67147764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:67147764C>T	ENST00000371037.4	+	15	1104	c.1027C>T	c.(1027-1029)Cca>Tca	p.P343S	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P347S|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	343	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACCAGACAACCCAGCTGACTC	0.587000													57	138					0	0	0.003610	0	0
SLC9A2	6549	broad.mit.edu	37	2	103318941	103318941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:103318941C>T	ENST00000233969.2	+	9	1967	c.1825C>T	c.(1825-1827)Ctc>Ttc	p.L609F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	609						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATCAAGAAATCTCTATCAAAT	0.358000													27	46					0	0	0.007291	0	0
EPHB3	2049	broad.mit.edu	37	3	184298401	184298401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:184298401C>T	ENST00000330394.2	+	12	2836	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	795	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TACACCAGTTCCCTGGTACAG	0.642000													28	23					0	0	0.001786	0	0
MAN2B2	23324	broad.mit.edu	37	4	6590783	6590783	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:6590783C>T	ENST00000285599.3	+	5	612	c.576C>T	c.(574-576)ttC>ttT	p.F192F	MAN2B2_ENST00000504248.1_Silent_p.F192F	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	192					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGCTGCAGTTCGTGTGGCGAG	0.617000													13	35					0	0	0.002450	0	0
PCNX	22990	broad.mit.edu	37	14	71444814	71444814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:71444814C>T	ENST00000304743.2	+	6	2206	c.1760C>T	c.(1759-1761)tCt>tTt	p.S587F	PCNX_ENST00000238570.5_Missense_Mutation_p.S587F|PCNX_ENST00000439984.3_Missense_Mutation_p.S587F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	587						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGAGGTGTTTCTGGTACCAAG	0.478000													37	75					0	0	0.005524	0	0
GPR6	2830	broad.mit.edu	37	6	110301318	110301318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:110301318G>A	ENST00000414000.2	+	3	1287	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	GPR6_ENST00000275169.3_Missense_Mutation_p.E335K			P46095	GPR6_HUMAN	G protein-coupled receptor 6	335						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCGCAACCAGGAGATCCAGCG	0.617000													44	92					0	0	0.003610	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291347	141291347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:141291347C>T	ENST00000247452.3	-	3	774	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	143	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GCCACCTTTTCATCTAGTGTA	0.502000										HNSCC(46;0.14)			40	68					0	0	0.007835	0	0
SYNPO	11346	broad.mit.edu	37	5	150027812	150027812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:150027812C>T	ENST00000394243.1	+	3	1081	c.707C>T	c.(706-708)cCc>cTc	p.P236L	SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000522122.1_Missense_Mutation_p.P236L|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000307662.4_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	236					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGAGCCCCGACAGAGGG	0.672000													9	17					0	0	0.004482	0	0
FBXO10	26267	broad.mit.edu	37	9	37537249	37537249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:37537249G>A	ENST00000432825.2	-	3	1325	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	426						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCCCTGCACGGAGTTGGCCAG	0.602000													10	21					0	0	0.006214	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27177626	27177626	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:27177626G>A	ENST00000374142.3	+	6	935	c.840G>A	c.(838-840)ctG>ctA	p.L280L	ZDHHC18_ENST00000478902.1_3'UTR	NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	280						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TCACCGTGCTGGAGTTGGTGA	0.562000													36	59					0	0	0.004878	0	0
FAT2	2196	broad.mit.edu	37	5	150908800	150908800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:150908800G>A	ENST00000261800.5	-	14	9977	c.9965C>T	c.(9964-9966)cCc>cTc	p.P3322L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3322	Cadherin 30.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATCTTGGGGGAATTGGGG	0.522000													41	49					0	0	0.002522	0	0
IGSF5	150084	broad.mit.edu	37	21	41151063	41151063	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:41151063G>A	ENST00000380588.4	+	5	868	c.765G>A	c.(763-765)ccG>ccA	p.P255P	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	255						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CAAGTTTACCGAGTTTAGGTT	0.413000													34	18					0	0	0.004878	0	0
NPAP1	23742	broad.mit.edu	37	15	24921998	24921998	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:24921998G>A	ENST00000329468.2	+	1	1458	c.984G>A	c.(982-984)agG>agA	p.R328R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGCAAAAGGAAAATGTCGA	0.587000													22	38					0	0	0.002780	0	0
SYNM	23336	broad.mit.edu	37	15	99670306	99670306	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:99670306C>T	ENST00000336292.6	+	5	1858	c.1738C>T	c.(1738-1740)Cta>Tta	p.L580L	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Silent_p.L295L|SYNM_ENST00000328642.7_Silent_p.L580L|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	581	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCCGATTAGTCTAGAAGTATC	0.552000													27	52					0	0	0.004656	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033208	52033208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52033208G>A	ENST00000346477.3	-	4	802	c.734C>T	c.(733-735)tCc>tTc	p.S245F	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S250F|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S261F|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S272F|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.S261F|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S209F	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	261	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GACAGGGAGGGACGAGGTGTT	0.602000													65	66					0	0	0.003610	0	0
TC2N	123036	broad.mit.edu	37	14	92265359	92265359	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:92265359T>C	ENST00000435962.2	-	6	934	c.611A>G	c.(610-612)aAt>aGt	p.N204S	TC2N_ENST00000360594.5_Missense_Mutation_p.N204S|TC2N_ENST00000556018.1_Missense_Mutation_p.N204S|TC2N_ENST00000340892.5_Missense_Mutation_p.N204S	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	204						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCCCTGAGAATTTTTCCTTGA	0.318000													15	55					0	0	0.008871	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618194	156618194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:156618194C>T	ENST00000296518.7	+	3	384	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.L59F|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.L59F|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.L59F|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.L59F|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.L59F|GUCY1A3_ENST00000515602.1_3'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	59					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACAAGAAAGTCTTCCTCAAAG	0.473000													38	51					0	0	0.004878	0	0
DPH7	92715	broad.mit.edu	37	9	140450068	140450068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:140450068G>A	ENST00000277540.2	-	9	1139	c.982C>T	c.(982-984)Cac>Tac	p.H328Y	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		GGCAATGTGTGAGATGTCAGG	0.602000													27	18					0	0	0.007291	0	0
MYH4	4622	broad.mit.edu	37	17	10356592	10356592	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10356592C>T	ENST00000255381.2	-	24	3098	c.2988G>A	c.(2986-2988)ctG>ctA	p.L996L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	996					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCCTTGGTCAGCTTAGCAA	0.478000													74	61					0	0	0.003610	0	0
CUBN	8029	broad.mit.edu	37	10	16982177	16982177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:16982177C>T	ENST00000377833.4	-	37	5467	c.5402G>A	c.(5401-5403)gGa>gAa	p.G1801E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1801	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGTGGCATTTCCTTCACGGAT	0.433000													108	116					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179665398	179665398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179665398G>A	ENST00000589042.1	-	4	531	c.307C>T	c.(307-309)Cca>Tca	p.P103S	TTN_ENST00000359218.5_Missense_Mutation_p.P103S|TTN_ENST00000342175.6_Missense_Mutation_p.P103S|TTN_ENST00000360870.5_Missense_Mutation_p.P103S|TTN_ENST00000591111.1_Missense_Mutation_p.P103S|TTN_ENST00000342992.6_Missense_Mutation_p.P103S|TTN_ENST00000460472.2_Missense_Mutation_p.P103S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	103							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)			AAGTTGGGTGGTGCTGTCTCA	0.493000													14	83					0	0	0.002450	0	0
ATP9A	10079	broad.mit.edu	37	20	50230308	50230308	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:50230308A>G	ENST00000338821.5	-	23	2743	c.2479T>C	c.(2479-2481)Ttg>Ctg	p.L827L	ATP9A_ENST00000311637.5_Silent_p.L691L|ATP9A_ENST00000402822.1_Silent_p.L706L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	827					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACCATAAGCAACCGGCCAAGA	0.507000													62	137					0	0	0.003610	0	0
TBX5	6910	broad.mit.edu	37	12	114793500	114793500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:114793500G>A	ENST00000310346.4	-	9	2060	c.1394C>T	c.(1393-1395)cCt>cTt	p.P465L	TBX5_ENST00000405440.2_Missense_Mutation_p.P465L|TBX5_ENST00000349716.5_Missense_Mutation_p.P415L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	465					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCTGACCACAGGCTGGTGGGC	0.657000													12	20					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179451330	179451330	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179451330T>A	ENST00000589042.1	-	308	64522	c.64298A>T	c.(64297-64299)gAa>gTa	p.E21433V	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12493V|TTN_ENST00000342175.6_Missense_Mutation_p.E12560V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19792V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18865V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12368V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19792	Fibronectin type-III 55.						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)			TTTCTTTCCTTCCTTTAGGCC	0.453000													42	52					0	0	0.002222	0	0
KCNE4	23704	broad.mit.edu	37	2	223918013	223918013	+	Silent	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:223918013C>A	ENST00000281830.3	+	2	949	c.618C>A	c.(616-618)ctC>ctA	p.L206L	KCNE4_ENST00000604125.1_Silent_p.L155L|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	155						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGACGCCCCTCAACGAGAGCA	0.637000													7	31					8.12818e-05	8.97808e-05	0.001984	1	0
CPE	1363	broad.mit.edu	37	4	166405696	166405696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:166405696G>A	ENST00000402744.4	+	5	1193	c.913G>A	c.(913-915)Gat>Aat	p.D305N		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	305					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAAGAATGATGATGACAGCAG	0.517000													118	249					0	0	0.003610	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641726	106641726	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:106641726C>T	ENST00000390605.2	-	0	246																											CCACTCAAGCCCTTGTCCAGG	0.547000													68	121					0	0	0.003610	0	0
EZH2	2146	broad.mit.edu	37	7	148524337	148524337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:148524337C>T	ENST00000320356.2	-	7	768	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	EZH2_ENST00000536783.1_Missense_Mutation_p.R107Q|EZH2_ENST00000476773.1_Missense_Mutation_p.R207Q|EZH2_ENST00000541220.1_Missense_Mutation_p.R207Q|EZH2_ENST00000478654.1_Missense_Mutation_p.R207Q|EZH2_ENST00000483967.1_Missense_Mutation_p.R207Q|EZH2_ENST00000460911.1_Missense_Mutation_p.R216Q|EZH2_ENST00000350995.2_Missense_Mutation_p.R177Q	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	216	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGGAAATTTCCGAGGTGGGCG	0.343000			Mis		DLBCL								52	100					0	0	0.003610	0	0
RNASEL	6041	broad.mit.edu	37	1	182550420	182550420	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:182550420G>A	ENST00000367559.3	-	5	2098	c.1845C>T	c.(1843-1845)ctC>ctT	p.L615L	RNASEL_ENST00000539397.1_Silent_p.L615L|RNASEL_ENST00000444138.1_Silent_p.L615L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	615	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCAGTAGTCTGAGGATCTCAC	0.423000													57	96					0	0	0.003610	0	0
OR6C65	403282	broad.mit.edu	37	12	55794506	55794506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:55794506C>T	ENST00000379665.2	+	1	293	c.194C>T	c.(193-195)tCt>tTt	p.S65F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						AGGAATTTCTCTTTCTTAGAA	0.333000													19	29					0	0	0.006122	0	0
SH3RF2	153769	broad.mit.edu	37	5	145383698	145383698	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:145383698C>T	ENST00000511217.1	+	3	778	c.726C>T	c.(724-726)ttC>ttT	p.F242F	SH3RF2_ENST00000359120.4_Silent_p.F242F			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	242	SH3 2.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGCATCTTCCCTATCTTGT	0.433000													34	67					0	0	0.003271	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350747	134350747	+	Silent	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:134350747T>G	ENST00000357304.4	+	15	3286	c.3231T>G	c.(3229-3231)cgT>cgG	p.R1077R	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1077							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCACTTTTCGTGGTCGGCCTG	0.632000													12	6					0	0	0.000978	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:92251698G>A	ENST00000435962.2	-	11	1493	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_ENST00000360594.5_Silent_p.F390F|TC2N_ENST00000556018.1_Silent_p.F326F|TC2N_ENST00000340892.5_Silent_p.F390F	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	390	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCACCTTCACGAAAAAACCTA	0.323000													84	103					0	0	0.003610	0	0
CLSTN3	9746	broad.mit.edu	37	12	7303190	7303190	+	Missense_Mutation	SNP	C	C	T	rs141776530		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:7303190C>T	ENST00000537408.1	+	14	2870	c.2332C>T	c.(2332-2334)Cgg>Tgg	p.R778W	CLSTN3_ENST00000266546.6_Missense_Mutation_p.R766W			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	766					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGCTCGTTATCGGCTGCGACA	0.577000													24	55					0	0	0.002780	0	0
LRBA	987	broad.mit.edu	37	4	151356790	151356790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:151356790G>A	ENST00000535741.1	-	46	7465	c.6992C>T	c.(6991-6993)tCa>tTa	p.S2331L	LRBA_ENST00000507224.1_Missense_Mutation_p.S2331L|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.S2331L|LRBA_ENST00000357115.3_Missense_Mutation_p.S2342L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2342	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCTGGAAATTGATGAAAAAGT	0.333000													34	70					0	0	0.002836	0	0
DNM3	26052	broad.mit.edu	37	1	172357743	172357743	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:172357743G>C	ENST00000358155.4	+	20	2492	c.2316G>C	c.(2314-2316)agG>agC	p.R772S	DNM3_ENST00000355305.5_Missense_Mutation_p.R778S|DNM3_ENST00000367731.1_Missense_Mutation_p.R768S	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	778					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAACCCAAAGGAGGCCAACAC	0.542000													6	19					0	0	0.001984	0	0
TTLL2	83887	broad.mit.edu	37	6	167754874	167754874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:167754874G>A	ENST00000239587.5	+	3	1574	c.1486G>A	c.(1486-1488)Gat>Aat	p.D496N		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	496					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GAGTGGGCAGGATTTTCATCT	0.547000													37	42					0	0	0.003755	0	0
NFE2	4778	broad.mit.edu	37	12	54686323	54686323	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:54686323C>T	ENST00000540264.2	-	2	1466	c.957G>A	c.(955-957)ctG>ctA	p.L319L	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.L319L|NFE2_ENST00000312156.4_Silent_p.L319L|NFE2_ENST00000435572.2_Silent_p.L319L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	319	Leucine-zipper.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GCATGACCTCCAGGGTCCGGT	0.612000													22	37					0	0	0.002780	0	0
ZMAT1	84460	broad.mit.edu	37	X	101152859	101152859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:101152859C>T	ENST00000372782.3	-	5	534	c.487G>A	c.(487-489)Gga>Aga	p.G163R	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.G163R	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GGTTGAAATCCTGATGGAGAT	0.413000													23	11					0	0	0.002780	0	0
SCN7A	6332	broad.mit.edu	37	2	167298103	167298103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:167298103C>T	ENST00000409855.1	-	14	2086	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	654					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACAAATTCTTCATAATTCTTA	0.443000													19	34					0	0	0.008871	0	0
CLVS1	157807	broad.mit.edu	37	8	62212398	62212398	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:62212398C>T	ENST00000519846.1	+	3	484	c.12C>T	c.(10-12)gtC>gtT	p.V4V	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.V4V			Q8IUQ0	CLVS1_HUMAN	clavesin 1	4					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGGGACCAGTCTCTCTTCTTC	0.463000													13	28					0	0	0.001855	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762289	24762289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:24762289C>T	ENST00000376451.2	+	2	393	c.133C>T	c.(133-135)Ccg>Tcg	p.P45S	KIAA1217_ENST00000396445.1_Missense_Mutation_p.P45S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P327S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P247S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P45S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P327S|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P45S|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P248S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P327S			Q5T5P2	SKT_HUMAN	KIAA1217	327					embryonic skeletal system development	cytoplasm		p.P327T(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCCCCCCTCCCCGTCCAGAAT	0.622000													11	44					0	0	0.000978	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167623	140167623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140167623G>A	ENST00000504120.2	+	1	1748	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R583Q|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCCGCGATTGGTGGGT	0.662000													31	41					0	0	0.001786	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560283	44560283	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:44560283C>T	ENST00000332567.4	-	1	1705	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	451					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCACCGTTTTCGGCCCGGCGG	0.602000													26	62					0	0	0.008361	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673986	20673986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:20673986C>T	ENST00000525748.1	+	15	2495	c.2222C>T	c.(2221-2223)cCt>cTt	p.P741L	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	741					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CATCTGGCCCCTGGAAGATTT	0.443000													39	69					0	0	0.002522	0	0
MC2R	4158	broad.mit.edu	37	18	13885395	13885395	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:13885395C>T	ENST00000327606.3	-	2	303	c.123G>A	c.(121-123)gaG>gaA	p.E41E		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	41					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CGATCAGATTCTCCAAAACTC	0.433000													12	24					0	0	0.001855	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61917794	61917794	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:61917794G>A	ENST00000370275.4	+	13	1242	c.1150_splice	c.e13+1	p.A384_splice	ARFGAP1_ENST00000547204.1_Splice_Site_p.S238_splice|ARFGAP1_ENST00000519604.1_Splice_Site_p.S259_splice|ARFGAP1_ENST00000519273.2_Splice_Site_p.S191_splice|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000370283.4_Splice_Site_p.S304_splice|ARFGAP1_ENST00000353546.3_Splice_Site_p.S312_splice			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	0					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CCCTTGGACAGGTATGCTGTG	0.622000													11	21					0	0	0.001368	0	0
DNAH7	56171	broad.mit.edu	37	2	196636518	196636518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:196636518C>T	ENST00000312428.6	-	61	11399	c.11299G>A	c.(11299-11301)Gag>Aag	p.E3767K	DNAH7_ENST00000409063.1_Missense_Mutation_p.E250K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3767					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGCAGCCTCGATGTCGAAG	0.453000													37	122					0	0	0.004289	0	0
POM121L12	285877	broad.mit.edu	37	7	53103676	53103676	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:53103676G>A	ENST00000408890.4	+	1	328	c.312G>A	c.(310-312)ggG>ggA	p.G104G		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	104										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCTTCCCGGGGAGACCGCTC	0.716000													12	18					0	0	0.004007	0	0
NECAP1	25977	broad.mit.edu	37	12	8245541	8245541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:8245541C>T	ENST00000339754.5	+	6	644	c.566C>T	c.(565-567)cCc>cTc	p.P189L		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	189					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TTACTCCCACCCCCGCCAGGA	0.512000													74	104					0	0	0.003610	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178548698	178548698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:178548698G>A	ENST00000251582.7	-	21	3243	c.3142C>T	c.(3142-3144)Ccg>Tcg	p.P1048S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1048					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCGGGGTCCGGGCGGGACAGC	0.622000													60	215					0	0	0.003610	0	0
COL13A1	1305	broad.mit.edu	37	10	71681679	71681679	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:71681679C>T	ENST00000356340.3	+	20	1634	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	COL13A1_ENST00000517713.1_Silent_p.L344L|COL13A1_ENST00000520267.1_Silent_p.L309L|COL13A1_ENST00000520133.1_Silent_p.L315L|COL13A1_ENST00000354547.3_Silent_p.L344L|COL13A1_ENST00000398972.3_Silent_p.L366L|COL13A1_ENST00000522165.1_Silent_p.L347L|COL13A1_ENST00000398969.3_Silent_p.L309L|COL13A1_ENST00000398973.3_Silent_p.L366L|COL13A1_ENST00000398978.3_Silent_p.L366L|COL13A1_ENST00000398974.3_Silent_p.L354L|COL13A1_ENST00000398964.3_Silent_p.L337L|COL13A1_ENST00000398968.3_Silent_p.L347L|COL13A1_ENST00000398971.3_Silent_p.L366L|COL13A1_ENST00000357811.3_Silent_p.L344L|COL13A1_ENST00000398966.3_Silent_p.L344L			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	366	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TTCCTGGCCTCCTGGGGCAGA	0.592000													3	5					0	0	0.000248	0	0
CRYL1	51084	broad.mit.edu	37	13	21006379	21006379	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:21006379G>A	ENST00000382812.1	-	6	657	c.429C>T	c.(427-429)gcC>gcT	p.A143A	CRYL1_ENST00000298248.7_Silent_p.A165A|CRYL1_ENST00000480748.1_5'UTR			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	165					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CTGTCGTAGGGGCCGTCTCCG	0.597000													24	42					0	0	0.003954	0	0
ALPK2	115701	broad.mit.edu	37	18	56274597	56274597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:56274597C>T	ENST00000361673.3	-	3	397	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	62	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCAAAGAATTCATAGTTGGAA	0.398000													39	42					0	0	0.005524	0	0
POLL	27343	broad.mit.edu	37	10	103339296	103339296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:103339296C>T	ENST00000370162.3	-	9	2136	c.1642G>A	c.(1642-1644)Ggc>Agc	p.G548S	POLL_ENST00000463515.1_5'UTR|POLL_ENST00000370172.1_Missense_Mutation_p.G460S|DPCD_ENST00000470165.1_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.G548S|POLL_ENST00000339310.3_Missense_Mutation_p.G271S|POLL_ENST00000456836.2_Missense_Mutation_p.G285S|POLL_ENST00000370158.3_Missense_Mutation_p.G273S|POLL_ENST00000370168.3_Missense_Mutation_p.G221S|POLL_ENST00000370169.1_Missense_Mutation_p.G548S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	548					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGCACTCGGCCAGGCCCCACC	0.627000								DNA polymerases (catalytic subunits)					16	42					0	0	0.003163	0	0
OR2T3	343173	broad.mit.edu	37	1	248637457	248637457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248637457C>T	ENST00000359594.2	+	1	831	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCCGAGTTCCTACCACACA	0.552000													76	285					0	0	0.003610	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40702812	40702812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:40702812C>T	ENST00000356699.5	+	4	498	c.469C>T	c.(469-471)Cct>Tct	p.P157S	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.P157T(2)									TTCCCCGGATCCTCAAGCCAA	0.587000													89	207					0	0	0.003610	0	0
SULT1C3	442038	broad.mit.edu	37	2	108875273	108875273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:108875273G>A	ENST00000329106.2	+	5	610	c.610G>A	c.(610-612)Gat>Aat	p.D204N	SULT1C3_ENST00000376700.1_Missense_Mutation_p.D204N	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	204						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CTTCTACGAGGATATTAAAAA	0.453000													11	48					0	0	0.008291	0	0
GCM2	9247	broad.mit.edu	37	6	10874607	10874607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:10874607G>A	ENST00000379491.4	-	5	1289	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	381					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GGTGATCACGGTTTGTAGGGC	0.562000													70	137					0	0	0.003610	0	0
ZNF556	80032	broad.mit.edu	37	19	2873574	2873574	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:2873574C>T	ENST00000586426.1	+	2	171	c.84C>T	c.(82-84)ctC>ctT	p.L28L	ZNF556_ENST00000307635.2_Silent_p.L28L			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AGAGAAAACTCTACAGAGATG	0.438000													39	53					0	0	0.006230	0	0
SFXN1	94081	broad.mit.edu	37	5	174936039	174936039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:174936039G>A	ENST00000321442.5	+	3	423	c.169G>A	c.(169-171)Gga>Aga	p.G57R	SFXN1_ENST00000502393.1_Missense_Mutation_p.G57R	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	57					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTAGGCAAGGAATTGTTCC	0.373000													40	45					0	0	0.006230	0	0
KANSL1	284058	broad.mit.edu	37	17	44109022	44109022	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:44109022G>A	ENST00000262419.6	-	15	3608	c.3138C>T	c.(3136-3138)ccC>ccT	p.P1046P	KANSL1_ENST00000574590.1_Silent_p.P1046P|KANSL1_ENST00000393476.3_Silent_p.P340P|KANSL1_ENST00000572904.1_Silent_p.P1046P|KANSL1_ENST00000432791.1_Silent_p.P1046P|KANSL1_ENST00000575318.1_Silent_p.P982P	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	1046						MLL1 complex	protein binding										ACTCCGCCTGGGGACTGTGCG	0.667000													17	33					0	0	0.007413	0	0
OSMR	9180	broad.mit.edu	37	5	38884197	38884197	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:38884197C>T	ENST00000274276.3	+	5	1089	c.687C>T	c.(685-687)atC>atT	p.I229I	OSMR_ENST00000502536.1_Silent_p.I229I	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	229					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGAAAGGCATCGTTCTTTTTG	0.373000													53	100					0	0	0.003610	0	0
BRDT	676	broad.mit.edu	37	1	92470105	92470105	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:92470105G>A	ENST00000370389.2	+	17	3228	c.2304G>A	c.(2302-2304)cgG>cgA	p.R768R	BRDT_ENST00000394530.3_Silent_p.R795R|BRDT_ENST00000362005.3_Silent_p.R841R|BRDT_ENST00000399546.2_Silent_p.R841R|BRDT_ENST00000402388.1_Silent_p.R841R	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.R841R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TAAAAGCTCGGACACAGGAAC	0.388000													36	76					0	0	0.004878	0	0
CMYA5	202333	broad.mit.edu	37	5	79033728	79033728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:79033728C>T	ENST00000446378.2	+	2	9171	c.9140C>T	c.(9139-9141)cCc>cTc	p.P3047L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3047						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCCACAATTCCCAGTGAAGAG	0.328000													29	48					0	0	0.007291	0	0
NLRP8	126205	broad.mit.edu	37	19	56467267	56467267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56467267G>A	ENST00000291971.3	+	3	1914	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E615K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	615						cytoplasm	ATP binding	p.E615K(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGTCTGCATGAAATCCGGGA	0.443000													16	39					0	0	0.004990	0	0
C16orf62	57020	broad.mit.edu	37	16	19592973	19592973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:19592973C>T	ENST00000438132.3	+	7	952	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q213*|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000542263.1_Nonsense_Mutation_p.Q302*|C16orf62_ENST00000417362.2_Nonsense_Mutation_p.Q213*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q91*	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	213						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AATAGTCATCCAGGTTAGCTC	0.498000													22	44					0	0	0.001882	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943183	12943183	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:12943183G>A	ENST00000235349.5	-	2	103	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	11										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGCTCCAGGAGTCTGGGTG	0.567000													37	261					0	0	0.008740	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092491	143092491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:143092491G>A	ENST00000367603.2	-	5	4127	c.3385C>T	c.(3385-3387)Cct>Tct	p.P1129S	HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1129S|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1129S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGCTGAAGAGGAGGCAGCACA	0.657000													24	47					0	0	0.002299	0	0
ANO1	55107	broad.mit.edu	37	11	69972233	69972233	+	Silent	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:69972233C>A	ENST00000355303.5	+	10	1334	c.1029C>A	c.(1027-1029)atC>atA	p.I343I	ANO1_ENST00000530676.1_Silent_p.I227I|ANO1_ENST00000398543.2_Silent_p.I227I|ANO1_ENST00000316296.5_Silent_p.I315I|ANO1_ENST00000531349.1_Silent_p.I78I|ANO1_ENST00000538023.1_Silent_p.I343I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	343					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AGATGCTCATCCCTGCCTCCA	0.597000													48	34					2.52991e-16	2.82794e-16	0.003610	1	0
RNASEH1	246243	broad.mit.edu	37	2	3599846	3599846	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:3599846G>A	ENST00000315212.3	-	3	652	c.297C>T	c.(295-297)ctC>ctT	p.L99L		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	99					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		GTGGCTCACGGAGTCGCTTGC	0.532000													28	26					0	0	0.002445	0	0
KAT7	11143	broad.mit.edu	37	17	47893179	47893179	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:47893179C>T	ENST00000503935.2	+	8	1435	c.399C>T	c.(397-399)acC>acT	p.T133T	KAT7_ENST00000259021.4_Silent_p.T289T|KAT7_ENST00000509773.1_Silent_p.T179T|KAT7_ENST00000510819.1_Silent_p.T120T|KAT7_ENST00000435742.2_Silent_p.T103T|KAT7_ENST00000424009.2_Silent_p.T259T|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000454930.2_Silent_p.T150T			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	289					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										ACAGACAGACCTATGGGAACA	0.428000													36	72					0	0	0.003755	0	0
PIGG	54872	broad.mit.edu	37	4	520928	520928	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:520928C>T	ENST00000453061.2	+	10	2276	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	PIGG_ENST00000310340.5_Silent_p.L716L|PIGG_ENST00000504346.1_Silent_p.L635L|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.L591L	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	724					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CAAGGCTGCCCTGGCGCTGGG	0.647000													16	28					0	0	0.006122	0	0
ICAM5	7087	broad.mit.edu	37	19	10405091	10405091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:10405091G>A	ENST00000221980.4	+	9	2068	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	669	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ACCGGAGATGGATGAATCTAC	0.692000													17	41					0	0	0.004990	0	0
ABCB5	340273	broad.mit.edu	37	7	20782640	20782640	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:20782640G>A	ENST00000404938.2	+	25	3817	c.3165G>A	c.(3163-3165)ggG>ggA	p.G1055G	ABCB5_ENST00000258738.6_Silent_p.G610G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	610					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCGGCTGTGGGAAAAGCACTT	0.493000													12	26					0	0	0.001368	0	0
CCDC178	374864	broad.mit.edu	37	18	30847258	30847258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:30847258C>T	ENST00000383096.3	-	13	1362	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	CCDC178_ENST00000583930.1_Missense_Mutation_p.E394K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E394K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E394K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E394K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E394K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E394K					coiled-coil domain containing 178																		CTCAAATCTTCCAGCTAAGAA	0.303000													41	45					0	0	0.008740	0	0
PSD	5662	broad.mit.edu	37	10	104165244	104165244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:104165244G>A	ENST00000020673.5	-	12	2711	c.2185C>T	c.(2185-2187)Ccc>Tcc	p.P729S	PSD_ENST00000406432.1_Missense_Mutation_p.P729S	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	729					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATGACCTTGGGGTTGGGGTCG	0.672000													13	51					0	0	0.001368	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753701	140753701	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140753701C>T	ENST00000517434.1	+	1	51	c.51C>T	c.(49-51)ctC>ctT	p.L17L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGCTCCTCACGCTCCTGG	0.597000													9	10					0	0	0.004482	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537589	5537589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5537589G>A	ENST00000380184.1	-	1	346	c.83C>T	c.(82-84)tCa>tTa	p.S28L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	28										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGTGGCACTTGAAGAGATATT	0.498000													35	65					0	0	0.008740	0	0
EBF2	64641	broad.mit.edu	37	8	25745471	25745471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:25745471C>T	ENST00000520164.1	-	9	1306	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	EBF2_ENST00000408929.3_Missense_Mutation_p.A109T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	257	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGGCTAATGGCTTTGATGCAG	0.493000													24	44					0	0	0.005443	0	0
BARHL1	56751	broad.mit.edu	37	9	135458257	135458257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:135458257G>A	ENST00000263610.2	+	1	686	c.73G>A	c.(73-75)Ggg>Agg	p.G25R	BARHL1_ENST00000542090.1_Missense_Mutation_p.G25R	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	25						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCTTCCCAAGGGGGACCCCTT	0.652000													28	28					0	0	0.007291	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2422192	2422192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:2422192G>A	ENST00000332578.3	+	13	2393	c.2393G>A	c.(2392-2394)gGa>gAa	p.G798E		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	798					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		ACTGCTAGGGGACAGACGCCA	0.662000													31	65					0	0	0.006230	0	0
THEMIS	387357	broad.mit.edu	37	6	128150819	128150819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:128150819C>T	ENST00000368250.1	-	4	772	c.274G>A	c.(274-276)Gga>Aga	p.G92R	THEMIS_ENST00000543064.1_Missense_Mutation_p.G171R|THEMIS_ENST00000537166.1_Missense_Mutation_p.G136R|THEMIS_ENST00000368248.2_Missense_Mutation_p.G171R			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	171	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAGAATTCTCCTTCTTGTGAC	0.378000													39	79					0	0	0.005524	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45501489	45501489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:45501489G>A	ENST00000359600.5	-	10	2367	c.2162C>T	c.(2161-2163)cCt>cTt	p.P721L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	721							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACCGCTGAAAGGACCTCCTGG	0.498000													18	34					0	0	0.007413	0	0
ARMC4	55130	broad.mit.edu	37	10	28224174	28224174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28224174C>T	ENST00000305242.5	-	16	2352	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	ARMC4_ENST00000545014.1_Missense_Mutation_p.E279K|ARMC4_ENST00000537576.1_Missense_Mutation_p.E446K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	754							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCTTTGTATTCCCGAAACCTA	0.398000													13	54					0	0	0.004007	0	0
UNC79	57578	broad.mit.edu	37	14	94053136	94053136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:94053136C>T	ENST00000553484.1	+	22	3068	c.2914C>T	c.(2914-2916)Ctt>Ttt	p.L972F	UNC79_ENST00000256339.4_Missense_Mutation_p.L795F|UNC79_ENST00000555664.1_Missense_Mutation_p.L972F|UNC79_ENST00000393151.2_Missense_Mutation_p.L972F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	972						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCAGACATTCTTTTTAATAT	0.363000													36	56					0	0	0.004878	0	0
DUS1L	64118	broad.mit.edu	37	17	80019527	80019527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:80019527G>A	ENST00000354321.7	-	6	1149	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	DUS1L_ENST00000306796.5_Missense_Mutation_p.R222W			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	222					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCCGTGTCCCGGAGGCAGCGC	0.652000													19	26					0	0	0.002299	0	0
CCDC94	55702	broad.mit.edu	37	19	4254406	4254406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:4254406C>T	ENST00000262962.7	+	4	393	c.325C>T	c.(325-327)Cag>Tag	p.Q109*		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	109										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		GCGGAATTTCCAGGCTGAGAA	0.577000													22	36					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9061789	9061789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9061789G>A	ENST00000397910.4	-	3	25860	c.25657C>T	c.(25657-25659)Ccc>Tcc	p.P8553S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8555	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						TCCACAGAGGGAAGGCTCGGC	0.507000													7	33					0	0	0.001984	0	0
ADH1B	125	broad.mit.edu	37	4	100234992	100234992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:100234992G>A	ENST00000305046.8	-	6	881	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	ADH1B_ENST00000394887.3_Missense_Mutation_p.R232W			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	272					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTGTCAAGCCGACCGATGACT	0.423000													106	154					0	0	0.003610	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755471	79755471	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:79755471C>T	ENST00000305428.3	+	3	2436	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	787						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AAGATGGCTTCCTGGTGGAGC	0.602000													23	44					0	0	0.001882	0	0
EIF2B3	8891	broad.mit.edu	37	1	45363098	45363098	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:45363098G>A	ENST00000360403.2	-	6	711	c.585C>T	c.(583-585)ttC>ttT	p.F195F	EIF2B3_ENST00000372183.3_Silent_p.F195F	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	195					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					GACCCGTGTGGAAACGTATTC	0.383000													11	19					0	0	0.008291	0	0
MIR1324	100302212	broad.mit.edu	37	3	75679957	75679957	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:75679957C>T	ENST00000408868.1	+	0	44					NR_031714.1																						CACTGGGAACCCCCTTCCCTC	0.527000													6	97					0	0	0.004482	0	0
MRPL2	51069	broad.mit.edu	37	6	43024063	43024063	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:43024063A>C	ENST00000388752.3	-	3	810	c.386T>G	c.(385-387)gTc>gGc	p.V129G	MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.V129G	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	129					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		ATCATAGCGGACTTGGATAAC	0.507000													29	65					0	0	0.008361	0	0
C9orf173	441476	broad.mit.edu	37	9	140146524	140146524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:140146524C>T	ENST00000388931.3	+	3	366	c.340C>T	c.(340-342)Ccg>Tcg	p.P114S	C9orf173_ENST00000412566.1_Missense_Mutation_p.P114S	NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1	NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1	Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	114										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GGTGCCGAGCCCGTCCGTACG	0.672000													6	7					0	0	0.001984	0	0
AVPR1B	553	broad.mit.edu	37	1	206224674	206224674	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:206224674G>A	ENST00000367126.4	+	1	699	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	78					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACTTAGCCCTGACAGACCTGG	0.677000													10	42					0	0	0.006214	0	0
SMAD6	4091	broad.mit.edu	37	15	67004021	67004021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:67004021C>T	ENST00000288840.5	+	2	1864	c.833C>T	c.(832-834)cCc>cTc	p.P278L	SMAD6_ENST00000457357.2_Missense_Mutation_p.P278L|SMAD6_ENST00000338426.4_Missense_Mutation_p.P17L	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	278	Poly-Pro.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CCGCCACCTCCCTACTCTCGG	0.557000													33	79					0	0	0.003755	0	0
CDS1	1040	broad.mit.edu	37	4	85562059	85562059	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:85562059C>T	ENST00000295887.5	+	10	1371	c.948C>T	c.(946-948)tcC>tcT	p.S316S		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	316					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATGTAAACTCCTTCGTGACAG	0.403000													51	91					0	0	0.003610	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450329	110450329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:110450329G>A	ENST00000260283.4	-	16	3625	c.3341C>T	c.(3340-3342)cCc>cTc	p.P1114L	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P1091L|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.P657L|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P1078L|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P1078L|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P1088L|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P1088L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1114					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GTCCTGGAAGGGAGAAGAACT	0.512000													47	28					0	0	0.003214	0	0
VCAM1	7412	broad.mit.edu	37	1	101200150	101200150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:101200150C>T	ENST00000294728.2	+	8	1986	c.1885C>T	c.(1885-1887)Cca>Tca	p.P629S	VCAM1_ENST00000347652.2_Missense_Mutation_p.P537S|VCAM1_ENST00000370119.4_Missense_Mutation_p.P567S|VCAM1_ENST00000370115.1_Missense_Mutation_p.P430S	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	629	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TGGAAATGTTCCAGAAACATG	0.408000													12	22					0	0	0.002450	0	0
MYH2	4620	broad.mit.edu	37	17	10428661	10428661	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10428661C>T	ENST00000245503.5	-	33	4926	c.4542G>A	c.(4540-4542)gaG>gaA	p.E1514E	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.E1514E|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1514					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGTCAGAAATCTCCTCTGTTG	0.383000													20	8					0	0	0.001882	0	0
HTN3	3347	broad.mit.edu	37	4	70897700	70897700	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70897700C>G	ENST00000530128.1	+	3	131	c.56C>G	c.(55-57)gCt>gGt	p.A19G	HTN3_ENST00000526767.1_Missense_Mutation_p.A19G|HTN3_ENST00000381057.3_Missense_Mutation_p.A19G			P15516	HIS3_HUMAN	histatin 3	19					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	8						TCCAAGGGAGCTGATTCACAT	0.234000													14	13					0	0	0.006122	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320951	128320951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:128320951G>A	ENST00000262462.4	+	2	1617	c.607G>A	c.(607-609)Gag>Aag	p.E203K	SLC27A6_ENST00000506176.1_Missense_Mutation_p.E203K|SLC27A6_ENST00000395266.1_Missense_Mutation_p.E203K			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	203					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTCACCTGATGAGCCCGTGCC	0.438000													11	44					0	0	0.001855	0	0
SLC13A3	64849	broad.mit.edu	37	20	45216772	45216772	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:45216772G>A	ENST00000279027.4	-	8	1065	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	SLC13A3_ENST00000396360.1_Intron|SLC13A3_ENST00000372121.1_Silent_p.F299F|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Intron|SLC13A3_ENST00000495082.1_Silent_p.F302F|SLC13A3_ENST00000290317.5_Silent_p.F302F|SLC13A3_ENST00000413164.2_Silent_p.F299F	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	349						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.F349F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAAACATGCAGAAAAGGATGA	0.592000													11	60					0	0	0.001855	0	0
UBE4B	10277	broad.mit.edu	37	1	10161224	10161224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:10161224C>T	ENST00000377157.3	+	4	1119	c.58C>T	c.(58-60)Cga>Tga	p.R20*	UBE4B_ENST00000253251.8_Nonsense_Mutation_p.R136*|UBE4B_ENST00000343090.6_Nonsense_Mutation_p.R136*	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	136					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGAAAATGATCGAAGAGAAAA	0.383000													26	42					0	0	0.004656	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:18809378G>A	ENST00000400664.1	+	1	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	635						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTGCCAAGGAAATCTTCGT	0.711000													12	22					0	0	0.001368	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46012327	46012327	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:46012327C>T	ENST00000400368.1	-	1	59	c.39G>A	c.(37-39)ctG>ctA	p.L13L	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	13						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						TGCCGTAGCTCAGGTCGCTGG	0.652000													18	14					0	0	0.002299	0	0
HECW1	23072	broad.mit.edu	37	7	43508616	43508616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:43508616G>A	ENST00000395891.1	+	16	3616	c.3011G>A	c.(3010-3012)cGg>cAg	p.R1004Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R970Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1004					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGCACAACCGGGACTTGGTG	0.537000													42	54					0	0	0.002222	0	0
PMEL	6490	broad.mit.edu	37	12	56349272	56349272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:56349272C>T	ENST00000548747.1	-	9	2400	c.1738G>A	c.(1738-1740)Gtc>Atc	p.V580I	PMEL_ENST00000550464.1_Missense_Mutation_p.V494I|PMEL_ENST00000550447.1_Missense_Mutation_p.V209I|PMEL_ENST00000539511.1_Missense_Mutation_p.V494I|PMEL_ENST00000360714.4_Missense_Mutation_p.V580I|PMEL_ENST00000536427.1_Missense_Mutation_p.V538I|PMEL_ENST00000552882.1_Missense_Mutation_p.V580I|PMEL_ENST00000449260.2_Missense_Mutation_p.V580I|PMEL_ENST00000548493.1_Missense_Mutation_p.V580I			P40967	PMEL_HUMAN	premelanosome protein	580					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGGTGCTGACCACTGCCAGG	0.567000													19	46					0	0	0.001882	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149074	52149074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52149074G>A	ENST00000360844.6	-	3	702	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	221	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GTGGTCACCTGAGCTCCTTGG	0.642000													19	44					0	0	0.003954	0	0
USP39	10713	broad.mit.edu	37	2	85866461	85866461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:85866461C>T	ENST00000323701.6	+	9	1241	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	USP39_ENST00000409766.3_Missense_Mutation_p.P411S|USP39_ENST00000409470.1_Missense_Mutation_p.P411S|USP39_ENST00000409025.1_Missense_Mutation_p.P411S|USP39_ENST00000450066.2_Missense_Mutation_p.P308S|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	411					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GCTCATCATTCCCCAAGTGCC	0.522000													20	28					0	0	0.001523	0	0
TMEM209	84928	broad.mit.edu	37	7	129815422	129815422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:129815422G>A	ENST00000397622.2	-	11	1396	c.1274C>T	c.(1273-1275)tCa>tTa	p.S425L	TMEM209_ENST00000336804.8_Missense_Mutation_p.S382L|TMEM209_ENST00000473456.1_Missense_Mutation_p.S383L|TMEM209_ENST00000462753.1_Missense_Mutation_p.S424L|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	425						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CCATCGAAATGAGCTCATACA	0.403000													9	15					0	0	0.001368	0	0
ZNF716	441234	broad.mit.edu	37	7	57522258	57522258	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:57522258G>A	ENST00000420713.1	+	2	244	c.132G>A	c.(130-132)gtG>gtA	p.V44V		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATAGAGATGTGATGTTAGAGA	0.388000													18	47					0	0	0.001882	0	0
ZNF704	619279	broad.mit.edu	37	8	81605253	81605253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:81605253G>A	ENST00000327835.3	-	3	542	c.311C>T	c.(310-312)cCc>cTc	p.P104L	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	104						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CGGCCGCACGGGAGGACTTCG	0.522000													21	50					0	0	0.002780	0	0
FAM134B	54463	broad.mit.edu	37	5	16474881	16474881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:16474881C>T	ENST00000306320.9	-	9	1549	c.1463G>A	c.(1462-1464)gGt>gAt	p.G488D	FAM134B_ENST00000399793.2_Missense_Mutation_p.G347D	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	488					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TGAAAGGAAACCTGAAGACTT	0.373000													12	83					0	0	0.001855	0	0
KCTD2	23510	broad.mit.edu	37	17	73059132	73059132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:73059132C>T	ENST00000322444.6	+	6	788	c.782C>T	c.(781-783)tCg>tTg	p.S261L	KCTD2_ENST00000581589.1_Missense_Mutation_p.S62L	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	261						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					GAGAGAGGATCGCGGATGTAA	0.552000													8	28					0	0	0.003080	0	0
ZNF524	147807	broad.mit.edu	37	19	56113487	56113487	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56113487C>T	ENST00000591046.1	+	1	243	c.9C>T	c.(7-9)acC>acT	p.T3T	ZNF524_ENST00000301073.3_Silent_p.T3T			Q96C55	ZN524_HUMAN	zinc finger protein 524	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CAATGGACACCCCCAGCCCAG	0.652000													34	50					0	0	0.008740	0	0
DNAH7	56171	broad.mit.edu	37	2	196746621	196746621	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:196746621C>T	ENST00000312428.6	-	36	5959	c.5859G>A	c.(5857-5859)ctG>ctA	p.L1953L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1953	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAATTGTGTCCAGAGTTGGCA	0.373000													43	49					0	0	0.008740	0	0
SULT1E1	6783	broad.mit.edu	37	4	70723286	70723286	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70723286T>A	ENST00000226444.3	-	2	189	c.77A>T	c.(76-78)tAt>tTt	p.Y26F		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	26					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						ATTATCCCAATATTTGACAAA	0.353000													39	42					0	0	0.006230	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671664	8671664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:8671664C>T	ENST00000299665.2	+	4	485	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	98	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CTGCTATTTTCCTCTTACTGA	0.483000													19	34					0	0	0.007413	0	0
AP2S1	1175	broad.mit.edu	37	19	47342728	47342728	+	Silent	SNP	G	G	A	rs151335841	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:47342728G>A	ENST00000263270.6	-	3	486	c.261C>T	c.(259-261)ttC>ttT	p.F87F	AP2S1_ENST00000593442.1_Silent_p.F37F|AP2S1_ENST00000597020.1_Silent_p.F67F|AP2S1_ENST00000352203.4_Silent_p.F101F|AP2S1_ENST00000599990.1_Silent_p.F89F|AP2S1_ENST00000601649.1_Intron|AP2S1_ENST00000601498.1_Silent_p.F103F	NM_004069.3	NP_004060.2	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1 subunit	87					axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity			central_nervous_system(1)|lung(1)|urinary_tract(1)	3		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		GTACCTCCACGAAGTTGTGAA	0.592000													53	95					0	0	0.003610	0	0
LOC645166	645166	broad.mit.edu	37	1	148932910	148932910	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:148932910C>T	ENST00000539543.1	+	0	166					NR_027355.1																						GCCAAGACTCCGTCCTGCAAG	0.612000													7	112					0	0	0.003080	0	0
PCLO	27445	broad.mit.edu	37	7	82538248	82538248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:82538248C>T	ENST00000423517.2	-	8	13719	c.13382G>A	c.(13381-13383)cGa>cAa	p.R4461Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R4461Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4392	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGGCAGTTTTCGGTCCAGACC	0.418000													39	53					0	0	0.007835	0	0
TMEM115	11070	broad.mit.edu	37	3	50395886	50395886	+	Silent	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:50395886T>C	ENST00000266025.3	-	1	1155	c.609A>G	c.(607-609)gtA>gtG	p.V203V	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	203					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCGAAGATATACCCAACTGG	0.637000													10	29					0	0	0.000978	0	0
ANO2	57101	broad.mit.edu	37	12	5744347	5744347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:5744347C>T	ENST00000327087.8	-	17	1858	c.1787G>A	c.(1786-1788)gGc>gAc	p.G596D	ANO2_ENST00000356134.5_Missense_Mutation_p.G597D|ANO2_ENST00000546188.1_Missense_Mutation_p.G597D			Q9NQ90	ANO2_HUMAN	anoctamin 2	601						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						GGCCACAGCGCCGTAGATCTC	0.522000													11	20					0	0	0.000978	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208876	1208876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:1208876C>T	ENST00000304460.10	+	2	274	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	73					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCATGATCCCGTTCCTCATC	0.657000													37	102					0	0	0.002222	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583386	80583386	+	Missense_Mutation	SNP	C	C	G	rs143006037		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:80583386C>G	ENST00000305904.6	+	3	205	c.85C>G	c.(85-87)Ccc>Gcc	p.P29A	DYNLRB2_ENST00000562982.1_Missense_Mutation_p.P58A|RP11-109P11.1_ENST00000568275.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000568035.1_Intron|DYNLRB2_ENST00000570222.1_3'UTR	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	29					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						AATAGGTATTCCCATCCGAAC	0.343000													8	9					0	0	0.006214	0	0
KRT24	192666	broad.mit.edu	37	17	38856635	38856635	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:38856635C>T	ENST00000264651.2	-	4	912	c.855_splice	c.e4-1	p.E286_splice		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	286	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TTCTTCATTTCCTAGCATGAA	0.443000													90	181					0	0	0.003610	0	0
GGT5	2687	broad.mit.edu	37	22	24622222	24622222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:24622222C>T	ENST00000327365.4	-	8	1467	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	GGT5_ENST00000418439.2_Missense_Mutation_p.D274N|GGT5_ENST00000398292.3_Missense_Mutation_p.D351N|GGT5_ENST00000263112.7_Missense_Mutation_p.D319N	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	351					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCCAGCAGGTCCCGGGAGGCA	0.682000													15	26					0	0	0.007413	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001350	52001350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52001350C>T	ENST00000291707.3	-	5	1382	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.E325K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	443	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGGTGAATTCCCCTTCATCC	0.612000													15	35					0	0	0.004007	0	0
XKR6	286046	broad.mit.edu	37	8	10755867	10755867	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:10755867G>A	ENST00000416569.2	-	3	1547	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	XKR6_ENST00000304437.2_Silent_p.I228I	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	507						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGCTGGCAAGGATCTTAGCTC	0.582000													16	21					0	0	0.004007	0	0
CACNA1E	777	broad.mit.edu	37	1	181480569	181480569	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:181480569C>T	ENST00000526775.1	+	3	600	c.435C>T	c.(433-435)gcC>gcT	p.A145A	CACNA1E_ENST00000358338.5_Silent_p.A96A|CACNA1E_ENST00000367573.2_Silent_p.A145A|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Silent_p.A96A|CACNA1E_ENST00000367570.1_Silent_p.A145A|CACNA1E_ENST00000360108.3_Silent_p.A145A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	145					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAATTGTGGCCCTGGGGTTCA	0.488000													81	148					0	0	0.003610	0	0
NR1D1	9572	broad.mit.edu	37	17	38253337	38253337	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:38253337C>T	ENST00000246672.3	-	2	981	c.351G>A	c.(349-351)aaG>aaA	p.K117K		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	117					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					TGCTGGTGCTCTTGCTGGGGG	0.572000													28	70					0	0	0.002096	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747027	167747027	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:167747027G>A	ENST00000470487.1	-	11	2186	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	GOLIM4_ENST00000309027.4_Silent_p.I471I	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	499	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTCTCCTTGGATTCCCTGGT	0.383000													16	38					0	0	0.004007	0	0
PROX2	283571	broad.mit.edu	37	14	75330436	75330436	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:75330436C>T	ENST00000556084.2	-	1	101	c.102G>A	c.(100-102)ctG>ctA	p.L34L	PROX2_ENST00000445876.1_Silent_p.L34L|PROX2_ENST00000556489.2_Silent_p.L34L	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	34					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGTCTCTATCCAGCTCTGGAG	0.572000													17	44					0	0	0.006122	0	0
C8orf34	116328	broad.mit.edu	37	8	69552661	69552661	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:69552661G>T	ENST00000337103.4	+	7	2415	c.823G>T	c.(823-825)Ggg>Tgg	p.G275W	C8orf34_ENST00000325233.3_Missense_Mutation_p.G44W|C8orf34_ENST00000539993.1_Missense_Mutation_p.G300W|C8orf34_ENST00000518698.1_Missense_Mutation_p.G386W			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	300					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGTACCTTCTGGGAGCAAATT	0.413000													13	66					4.7546e-09	5.27833e-09	0.004007	1	0
TRAK1	22906	broad.mit.edu	37	3	42251694	42251694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:42251694C>T	ENST00000341421.3	+	13	2199	c.2006C>T	c.(2005-2007)cCa>cTa	p.P669L	TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron	NM_001265608.1|NM_014965.4	NP_001252537.1|NP_055780.2	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ACCTCTGTTCCAGGCACCATC	0.512000													136	227					0	0	0.003610	0	0
NT5C3A	51251	broad.mit.edu	37	7	33102262	33102262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:33102262G>A	ENST00000242210.7	-	1	147	c.71C>T	c.(70-72)gCc>gTc	p.A24V		NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1			5'-nucleotidase, cytosolic IIIA																		CGCCACCAGGGCGCACACGCT	0.652000													5	5					0	0	0.000602	0	0
OR52B4	143496	broad.mit.edu	37	11	4389234	4389234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:4389234G>A	ENST00000408920.2	-	1	382	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGATGCAACGATCCAGGGAG	0.527000													11	48					0	0	0.001855	0	0
DIAPH1	1729	broad.mit.edu	37	5	140896445	140896445	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140896445G>A	ENST00000253811.6	-	28	3935	c.3795C>T	c.(3793-3795)gcC>gcT	p.A1265A	DIAPH1_ENST00000389054.3_Silent_p.A1261A|DIAPH1_ENST00000398566.3_Silent_p.A1256A|DIAPH1_ENST00000398562.2_Silent_p.A1240A|DIAPH1_ENST00000398557.4_Silent_p.A1264A|DIAPH1_ENST00000389057.5_Silent_p.A1255A|DIAPH1_ENST00000518047.1_Silent_p.A1252A|DIAPH1_ENST00000520569.1_Silent_p.A1207A			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1264					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAACTCCTTGGCTTCCTCAA	0.582000													20	27					0	0	0.002299	0	0
GSTT1	2952	broad.mit.edu	37	22	24376534	24376534	+	Silent	SNP	C	C	T	rs76323459		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:24376534C>T	ENST00000248935.5	-	5	664	c.612G>A	c.(610-612)gaG>gaA	p.E204E	GSTT1_ENST00000439996.2_Silent_p.E86E	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	204	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	GGAAGAGGTCCTCCCCCACTG	0.632000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				23	49					0	0	0.003330	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923261	35923261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:35923261G>A	ENST00000490799.1	-	17	2253	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	SLC26A8_ENST00000355574.2_Missense_Mutation_p.P634S|SLC26A8_ENST00000394602.2_Missense_Mutation_p.P529S	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	634	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GATGCTTCGGGATCCAGTTTA	0.473000													32	46					0	0	0.002096	0	0
TLR5	7100	broad.mit.edu	37	1	223284687	223284687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:223284687G>A	ENST00000540964.1	-	4	2148	c.1687C>T	c.(1687-1689)Cct>Tct	p.P563S	TLR5_ENST00000342210.6_Missense_Mutation_p.P563S			O60602	TLR5_HUMAN	toll-like receptor 5	563			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCAGGATTAGGAGCTAGGAGC	0.388000													23	39					0	0	0.002780	0	0
GABBR1	2550	broad.mit.edu	37	6	29598337	29598337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:29598337C>T	ENST00000377034.4	-	4	708	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	GABBR1_ENST00000377016.4_Intron|GABBR1_ENST00000376977.3_Missense_Mutation_p.A125T	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	125	Sushi 2.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TCCACCCGGGCTCCGTCCAGA	0.597000													27	49					0	0	0.007291	0	0
OR51S1	119692	broad.mit.edu	37	11	4870198	4870198	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:4870198A>T	ENST00000322101.2	-	1	316	c.241T>A	c.(241-243)Ttg>Atg	p.L81M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGTGACCAATCCAATATCA	0.552000													41	66					0	0	0.006230	0	0
PRDM9	56979	broad.mit.edu	37	5	23526462	23526462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:23526462G>A	ENST00000296682.3	+	11	1447	c.1265G>A	c.(1264-1266)aGa>aAa	p.R422K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	422					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCATCTGCAAGAAAACTCCTC	0.483000										HNSCC(3;0.000094)			36	67					0	0	0.006230	0	0
SMOC2	64094	broad.mit.edu	37	6	169008841	169008841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:169008841G>A	ENST00000354536.5	+	9	1082	c.862G>A	c.(862-864)Gag>Aag	p.E288K	SMOC2_ENST00000356284.2_Missense_Mutation_p.E277K	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	277					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCATAGGTACGAGCAGCCGAA	0.612000													10	15					0	0	0.001368	0	0
ZBBX	79740	broad.mit.edu	37	3	167023697	167023697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:167023697C>T	ENST00000392766.2	-	17	1799	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	ZBBX_ENST00000455345.2_Missense_Mutation_p.D487N|ZBBX_ENST00000392767.2_Missense_Mutation_p.D487N|ZBBX_ENST00000392764.1_Missense_Mutation_p.D458N|ZBBX_ENST00000307529.5_Missense_Mutation_p.D487N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	487						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAATACACATCAGGATCCACG	0.289000													7	13					0	0	0.003080	0	0
PKP4	8502	broad.mit.edu	37	2	159499059	159499059	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:159499059T>C	ENST00000389757.3	+	11	1882	c.1757T>C	c.(1756-1758)gTt>gCt	p.V586A	PKP4_ENST00000389759.3_Missense_Mutation_p.V586A	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	586					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GTTTTGGAAGTTCAGAAGAAT	0.423000										HNSCC(62;0.18)			46	58					0	0	0.003610	0	0
MUC4	4585	broad.mit.edu	37	3	195487808	195487808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:195487808C>T	ENST00000463781.3	-	16	15254	c.14795G>A	c.(14794-14796)gGa>gAa	p.G4932E	MUC4_ENST00000346145.4_Missense_Mutation_p.G696E|MUC4_ENST00000349607.4_Missense_Mutation_p.G645E|MUC4_ENST00000475231.1_Missense_Mutation_p.G4880E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1689					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGTGTGAAGTCCGATGCTTGC	0.552000													12	64					0	0	0.001368	0	0
TIMM44	10469	broad.mit.edu	37	19	7998441	7998441	+	Missense_Mutation	SNP	A	A	C	rs41539862		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:7998441A>C	ENST00000270538.3	-	7	966	c.698T>G	c.(697-699)gTc>gGc	p.V233G		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	233					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GTGCAGCACGACCCCCAGGGC	0.652000													59	146					0	0	0.003610	0	0
ZNF91	7644	broad.mit.edu	37	19	23542635	23542635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:23542635G>A	ENST00000300619.7	-	4	3351	c.3146C>T	c.(3145-3147)cCt>cTt	p.P1049L	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P1017L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1049						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACACTTGTAAGGTTTCTCTCC	0.363000													12	38					0	0	0.001855	0	0
FGFBP1	9982	broad.mit.edu	37	4	15938050	15938050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:15938050C>T	ENST00000382333.1	-	3	500	c.206G>A	c.(205-207)aGa>aAa	p.R69K	FGFBP1_ENST00000259988.2_Missense_Mutation_p.R69K	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	69					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						AGCAGCCCATCTGCAGTTGGC	0.502000													45	78					0	0	0.002852	0	0
PVRL1	5818	broad.mit.edu	37	11	119549141	119549141	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:119549141G>A	ENST00000264025.3	-	2	944	c.414C>T	c.(412-414)ctC>ctT	p.L138L	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Silent_p.L138L|PVRL1_ENST00000340882.2_Silent_p.L138L	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	138	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCGTGAGATTGAGCTGGCTTT	0.612000													40	30					0	0	0.002222	0	0
AMPD1	270	broad.mit.edu	37	1	115218614	115218614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:115218614G>A	ENST00000369538.3	-	10	1533	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	AMPD1_ENST00000520113.2_Missense_Mutation_p.R500C|AMPD1_ENST00000353928.6_Missense_Mutation_p.R467C	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	467					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTCTTGGAACGGAACACATCA	0.428000													38	71					0	0	0.006230	0	0
FAM135A	57579	broad.mit.edu	37	6	71236209	71236209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:71236209G>A	ENST00000418814.2	+	15	4036	c.3422G>A	c.(3421-3423)gGt>gAt	p.G1141D	FAM135A_ENST00000505769.1_Missense_Mutation_p.G721D|FAM135A_ENST00000361499.3_Missense_Mutation_p.G945D|FAM135A_ENST00000505868.1_Missense_Mutation_p.G1141D|FAM135A_ENST00000457062.2_Missense_Mutation_p.G928D|FAM135A_ENST00000370479.3_Missense_Mutation_p.G928D	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1141										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTGAGAGATGGTATAAACATG	0.358000													65	95					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70908741	70908741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:70908741C>T	ENST00000393567.2	-	63	10789	c.10639G>A	c.(10639-10641)Gaa>Aaa	p.E3547K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3547										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGTTTATTTTCCTCTGTGATG	0.522000													8	11					0	0	0.006214	0	0
CDK12	51755	broad.mit.edu	37	17	37681031	37681031	+	Missense_Mutation	SNP	G	G	A	rs143648695		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:37681031G>A	ENST00000447079.4	+	12	3233	c.3200G>A	c.(3199-3201)cGa>cAa	p.R1067Q	CDK12_ENST00000430627.2_Missense_Mutation_p.R1067Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1067					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAACTTCTCGAAAAGAAACT	0.552000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			52	82					0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	3063131	3063131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:3063131C>T	ENST00000602557.1	-	32	5437	c.4882G>A	c.(4882-4884)Ggc>Agc	p.G1628S	CSMD1_ENST00000602723.1_Missense_Mutation_p.G1628S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1627S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1628S|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1627S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1627S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1628S|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1628	CUB 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGTACTGGCCTCCACAGGGA	0.453000													8	7					0	0	0.003080	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175770	140175770	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140175770G>A	ENST00000526136.1	+	1	1221	c.1221G>A	c.(1219-1221)ttG>ttA	p.L407L	PCDHA2_ENST00000378132.1_Silent_p.L407L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.L407L	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACTCGTTGGTGCTGGACA	0.622000													38	102					0	0	0.007835	0	0
OR5A1	219982	broad.mit.edu	37	11	59210722	59210722	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:59210722G>A	ENST00000302030.2	+	1	106	c.81G>A	c.(79-81)caG>caA	p.Q27Q		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CAGAACTCCAGGCCCTCCTCT	0.537000													57	52					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855733	228855733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:228855733C>T	ENST00000392056.3	-	11	4988	c.4942G>A	c.(4942-4944)Gaa>Aaa	p.E1648K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1619K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1648						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATTCTGTTTTCCTGAGATTTC	0.463000													14	17					0	0	0.004007	0	0
TBX4	9496	broad.mit.edu	37	17	59557286	59557286	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:59557286C>T	ENST00000393853.4	+	7	910	c.747C>T	c.(745-747)ttC>ttT	p.F249F	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Silent_p.F249F			P57082	TBX4_HUMAN	T-box 4	249					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCAAGGGATTCCGGGGCAGTG	0.582000													36	66					0	0	0.006999	0	0
CDH16	1014	broad.mit.edu	37	16	66945091	66945091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:66945091C>T	ENST00000299752.4	-	14	2111	c.1918G>A	c.(1918-1920)Gat>Aat	p.D640N	CDH16_ENST00000565796.1_Missense_Mutation_p.D640N|CDH16_ENST00000568632.1_Missense_Mutation_p.D543N|CDH16_ENST00000570262.1_Missense_Mutation_p.D560N|CDH16_ENST00000394055.3_Missense_Mutation_p.D640N	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	640	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ATACCTGTATCCTGGGCCTCC	0.632000													11	17					0	0	0.001855	0	0
USP19	10869	broad.mit.edu	37	3	49149122	49149122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:49149122G>A	ENST00000453664.1	-	21	3310	c.2992C>T	c.(2992-2994)Ccc>Tcc	p.P998S	USP19_ENST00000417901.1_Missense_Mutation_p.P1010S|USP19_ENST00000398898.2_Missense_Mutation_p.P947S|USP19_ENST00000398896.1_Missense_Mutation_p.P715S|USP19_ENST00000434032.2_Missense_Mutation_p.P1008S|USP19_ENST00000398892.3_Missense_Mutation_p.P947S|USP19_ENST00000398888.2_Missense_Mutation_p.P907S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	907					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCTGAATGGGGTCTCTCTCG	0.667000													22	30					0	0	0.001882	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548646	20548646	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:20548646C>T	ENST00000329697.6	-	14	1836	c.1668G>A	c.(1666-1668)ggG>ggA	p.G556G	ACSM2B_ENST00000565322.1_Silent_p.G477G|ACSM2B_ENST00000565232.1_Silent_p.G556G|ACSM2B_ENST00000567001.1_Silent_p.G556G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	556					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GTTGAATTTTCCCTGTGACAG	0.473000													42	133					0	0	0.006999	0	0
RPL10L	140801	broad.mit.edu	37	14	47120662	47120662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:47120662G>A	ENST00000298283.3	-	1	366	c.278C>T	c.(277-279)cCc>cTc	p.P93L		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	93					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GACATGGAAGGGATGGAGCCG	0.537000													23	42					0	0	0.002299	0	0
FAM83F	113828	broad.mit.edu	37	22	40417328	40417328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:40417328C>T	ENST00000333407.5	+	4	908	c.814C>T	c.(814-816)Ctc>Ttc	p.L272F	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	272										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GGACAGAAACCTCCTCCTGCT	0.602000													65	114					0	0	0.003610	0	0
OR7G2	390882	broad.mit.edu	37	19	9212964	9212964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9212964C>T	ENST00000305456.2	-	1	1018	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AAACCTGAATCCAAAGCAAAT	0.408000													20	39					0	0	0.002299	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335861	20335861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:20335861G>A	ENST00000377252.3	+	3	1229	c.388G>A	c.(388-390)Gat>Aat	p.D130N	PLXDC2_ENST00000377242.3_Intron|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	130						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGCCAGCCGGGATTTATGGGT	0.373000													29	97					0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9061493	9061493	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9061493C>T	ENST00000397910.4	-	3	26156	c.25953G>A	c.(25951-25953)ggG>ggA	p.G8651G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8653	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						AAATCACAGTCCCTACATTGA	0.438000													26	49					0	0	0.004656	0	0
KIAA0930	23313	broad.mit.edu	37	22	45595851	45595851	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:45595851G>A	ENST00000336156.4	-	8	983	c.918C>T	c.(916-918)tcC>tcT	p.S306S	KIAA0930_ENST00000443310.3_Silent_p.S288S|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000391627.2_Silent_p.S272S|KIAA0930_ENST00000251993.7_Silent_p.S311S	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	306							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TCCTCTTGAGGGATGGGGAGA	0.612000													17	40					0	0	0.004990	0	0
ZNF107	51427	broad.mit.edu	37	7	64168604	64168604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:64168604G>A	ENST00000395391.1	+	4	3297	c.1922G>A	c.(1921-1923)tGt>tAt	p.C641Y	ZNF107_ENST00000423627.1_Missense_Mutation_p.C641Y|ZNF107_ENST00000344930.3_Missense_Mutation_p.C641Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TGTGCAGAATGTGGCAAAGCC	0.363000													29	27					0	0	0.007291	0	0
TP63	8626	broad.mit.edu	37	3	189607196	189607196	+	Silent	SNP	C	C	T	rs147389337	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:189607196C>T	ENST00000264731.3	+	12	1664	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	TP63_ENST00000449992.1_Silent_p.L346L|TP63_ENST00000320472.5_Intron|TP63_ENST00000392463.2_Silent_p.L431L|TP63_ENST00000354600.5_Silent_p.L431L|TP63_ENST00000382063.4_Silent_p.L440L|TP63_ENST00000392461.3_Intron|TP63_ENST00000392460.3_Silent_p.L525L|TP63_ENST00000440651.2_Silent_p.L521L|TP63_ENST00000456148.1_Silent_p.L427L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	525					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCAGGCACTCCCTCCCCCAC	0.577000										HNSCC(45;0.13)			21	43					0	0	0.008871	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123980	99123980	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:99123980C>T	ENST00000394170.2	+	6	1568	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	ZKSCAN5_ENST00000326775.5_Silent_p.F439F|ZKSCAN5_ENST00000451158.1_Silent_p.F439F	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	439					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGAAGAACTTCGGTCGCCATT	0.537000													102	148					0	0	0.003610	0	0
NTN3	4917	broad.mit.edu	37	16	2522769	2522769	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2522769C>T	ENST00000293973.1	+	2	1199	c.996C>T	c.(994-996)cgC>cgT	p.R332R		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	332	Laminin EGF-like 2.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		p.R332R(1)		breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TGTCCGGCCGCCGCAGCGGGG	0.687000													13	39					0	0	0.004990	0	0
TBC1D32	221322	broad.mit.edu	37	6	121481210	121481210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:121481210G>A	ENST00000275159.6	-	25	2841	c.2842C>T	c.(2842-2844)Cca>Tca	p.P948S	TBC1D32_ENST00000398212.2_Missense_Mutation_p.P907S|TBC1D32_ENST00000398197.2_5'UTR					TBC1 domain family, member 32																		TTTGGCAATGGATATGATGAA	0.299000													37	70					0	0	0.003610	0	0
FREM2	341640	broad.mit.edu	37	13	39452969	39452969	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:39452969A>C	ENST00000280481.7	+	23	9077	c.8859_splice	c.e23-1	p.D2954_splice		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2954					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCTTAAAGGACAAAGCTCAG	0.423000													23	45					0	0	0.002780	0	0
ZNF831	128611	broad.mit.edu	37	20	57782063	57782063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:57782063G>A	ENST00000371030.2	+	3	3979	c.3979G>A	c.(3979-3981)Gga>Aga	p.G1327R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1327						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGCACTTGAGGGACTGAAGCC	0.572000													35	67					0	0	0.003755	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390341	208390341	+	Silent	SNP	G	G	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:208390341G>C	ENST00000367033.3	-	2	1684	c.927C>G	c.(925-927)ctC>ctG	p.L309L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	309	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGCCTGCAGGAGGCGGTATT	0.612000													17	38					0	0	0.007413	0	0
SEC24D	9871	broad.mit.edu	37	4	119659531	119659531	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:119659531A>G	ENST00000379735.5	-	19	2655	c.2384T>C	c.(2383-2385)tTt>tCt	p.F795S	SEC24D_ENST00000419654.2_Missense_Mutation_p.F350S|SEC24D_ENST00000280551.6_Missense_Mutation_p.F794S|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Missense_Mutation_p.F350S|SEC24D_ENST00000511481.1_Missense_Mutation_p.F425S	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	794					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AACTGCTTTAAAAGCTACATC	0.383000													23	29					0	0	0.004656	0	0
BAGE2	85319	broad.mit.edu	37	21	11047514	11047514	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:11047514C>T	ENST00000470054.1	-	0	740									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTACAGATTTCATAATTCGTT	0.348000													14	318					0	0	0.003163	0	0
TRPC3	7222	broad.mit.edu	37	4	122835986	122835986	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:122835986G>A	ENST00000264811.5	-	3	1489	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000379645.3_Silent_p.A430A	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	345					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAAGGCCCAGGGCCACGACCA	0.537000													22	34					0	0	0.001882	0	0
IGHG3	3502	broad.mit.edu	37	14	106236650	106236650	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:106236650G>A	ENST00000390551.2	-	0	414																											TGGGCATGGGGGAGGTGTGTC	0.647000													35	266					0	0	0.005524	0	0
ZNF425	155054	broad.mit.edu	37	7	148801468	148801468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:148801468G>A	ENST00000378061.2	-	4	1627	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	499					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCGCCGCAGGGAAACTCCTTC	0.632000													27	30					0	0	0.005443	0	0
LTK	4058	broad.mit.edu	37	15	41797411	41797411	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:41797411G>A	ENST00000263800.6	-	15	2016	c.1920C>T	c.(1918-1920)atC>atT	p.I640I	LTK_ENST00000355166.5_Silent_p.I579I|LTK_ENST00000453182.2_Silent_p.I510I|LTK_ENST00000561619.1_Silent_p.I338I	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	640	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CTAACCTGTGGATGAAGTGAT	0.577000										TSP Lung(18;0.14)			16	33					0	0	0.004990	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15326399	15326399	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:15326399C>T	ENST00000344693.5	-	0	808					NR_027270.1																						TCTCCTTTTCCATTGACTATT	0.448000													36	19					0	0	0.004878	0	0
TRPC7	57113	broad.mit.edu	37	5	135692364	135692364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:135692364G>A	ENST00000513104.1	-	2	994	c.712C>T	c.(712-714)Cct>Tct	p.P238S	TRPC7_ENST00000426057.2_Missense_Mutation_p.P238S|TRPC7_ENST00000355180.3_Missense_Mutation_p.P238S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	238					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGAGGACAGGGTCTTCGCTG	0.562000													5	23					0	0	0.001984	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545462	234545462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:234545462G>A	ENST00000344644.5	+	1	363	c.294G>A	c.(292-294)tgG>tgA	p.W98*	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Nonsense_Mutation_p.W98*	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATGCTCAATGGAAAGCACAGG	0.398000													20	83					0	0	0.007413	0	0
LYVE1	10894	broad.mit.edu	37	11	10585563	10585563	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:10585563C>T	ENST00000256178.3	-	3	479	c.321G>A	c.(319-321)ggG>ggA	p.G107G	MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Intron|LYVE1_ENST00000531706.1_5'UTR	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	107	Link.				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		CCCCATTTTTCCCACACTTGG	0.463000													29	27					0	0	0.007291	0	0
OTOGL	283310	broad.mit.edu	37	12	80647276	80647276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:80647276C>T	ENST00000458043.2	+	13	1295	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	OTOGL_ENST00000547103.1_Missense_Mutation_p.S430F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACTTGCATCTCCTTGGAAAAT	0.343000													32	57					0	0	0.006999	0	0
FRG1B	284802	broad.mit.edu	37	20	29632694	29632694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:29632694G>A	ENST00000278882.3	+	8	889	c.509G>A	c.(508-510)gGa>gAa	p.G170E	FRG1B_ENST00000358464.4_Missense_Mutation_p.G170E																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAGAAAGATGGATTTTTGCAT	0.318000													16	706					0	0	0.007413	0	0
SARDH	1757	broad.mit.edu	37	9	136561368	136561368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:136561368G>A	ENST00000371872.4	-	14	2041	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F	SARDH_ENST00000371868.1_Missense_Mutation_p.S23F|SARDH_ENST00000422262.2_Missense_Mutation_p.S427F|SARDH_ENST00000439388.1_Missense_Mutation_p.S595F	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	595					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GACATCTGCGGAGAAGAGCCA	0.617000													16	18					0	0	0.004990	0	0
XIRP2	129446	broad.mit.edu	37	2	168100438	168100438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:168100438G>A	ENST00000409195.1	+	9	2625	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E624K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E846K|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	671					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGGATGTTTGAAACCCAGCC	0.373000													21	80					0	0	0.001882	0	0
GDF10	2662	broad.mit.edu	37	10	48429221	48429221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:48429221G>A	ENST00000224605.2	-	2	930	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	222					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CAGCTGGGCGGAGAGGAGCAG	0.706000													6	21					0	0	0.001984	0	0
MROH5	389690	broad.mit.edu	37	8	142444090	142444090	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:142444090G>A	ENST00000430863.1	-	0	4005					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		ACCTTCTGGAGGAAGGAGAGC	0.627000													5	19					0	0	0.000602	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261747	39261747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:39261747G>A	ENST00000391415.1	+	1	164	c.107G>A	c.(106-108)aGg>aAg	p.R36K		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	36	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ACCTGCTGCAGGACCACCTGC	0.657000													22	26					0	0	0.001523	0	0
PALLD	23022	broad.mit.edu	37	4	169815749	169815749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:169815749G>A	ENST00000335742.7	+	13	3003	c.1646G>A	c.(1645-1647)aGa>aAa	p.R549K	PALLD_ENST00000261509.6_Missense_Mutation_p.R707K|PALLD_ENST00000505667.1_Missense_Mutation_p.R707K|PALLD_ENST00000512127.1_Missense_Mutation_p.R325K|CBR4_ENST00000509108.1_5'UTR|PALLD_ENST00000507735.1_Missense_Mutation_p.R220K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	931					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TACGAAGAAAGAATGGCTCGT	0.373000									Pancreatic Cancer, Familial Clustering of				8	13					0	0	0.001855	0	0
SETBP1	26040	broad.mit.edu	37	18	42281737	42281737	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:42281737C>T	ENST00000282030.5	+	2	722	c.426C>T	c.(424-426)tcC>tcT	p.S142S	SETBP1_ENST00000426838.4_Silent_p.S142S	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	142						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGAAGGTGTCCCGTGCTGGAA	0.458000									Schinzel-Giedion syndrome				23	28					0	0	0.002299	0	0
C12orf50	160419	broad.mit.edu	37	12	88391963	88391963	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:88391963G>A	ENST00000298699.2	-	4	318	c.138C>T	c.(136-138)atC>atT	p.I46I	C12orf50_ENST00000550553.1_Silent_p.I46I	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	46										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TCTGTAGTGTGATATCTGCAG	0.373000													6	20					0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82580135	82580135	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:82580135A>G	ENST00000423517.2	-	6	10106	c.9769T>C	c.(9769-9771)Ttg>Ctg	p.L3257L	PCLO_ENST00000333891.8_Silent_p.L3257L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3188					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCTCCTCCAACTTTTTCTGA	0.463000													44	101					0	0	0.002852	0	0
STAT4	6775	broad.mit.edu	37	2	191897726	191897726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:191897726C>T	ENST00000392320.2	-	21	2316	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	STAT4_ENST00000358470.4_Missense_Mutation_p.D668N	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	668					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D668H(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGGCTTTGTCTTTGGGAATG	0.398000													11	47					0	0	0.001855	0	0
HYDIN	54768	broad.mit.edu	37	16	71127753	71127753	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:71127753C>T	ENST00000393567.2	-	11	1563	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G	HYDIN_ENST00000538248.1_Silent_p.G498G|HYDIN_ENST00000448691.1_Silent_p.G471G|HYDIN_ENST00000448089.2_Silent_p.G471G|HYDIN_ENST00000393550.2_Silent_p.G471G|HYDIN_ENST00000321489.5_Silent_p.G471G|HYDIN_ENST00000288168.10_Silent_p.G488G|HYDIN_ENST00000541601.1_Silent_p.G488G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	471										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGAAAACTTTCCCAATATCCA	0.413000													20	26					0	0	0.002780	0	0
MOV10	4343	broad.mit.edu	37	1	113234343	113234343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:113234343C>T	ENST00000369644.1	+	7	1754	c.725C>T	c.(724-726)cCc>cTc	p.P242L	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.P298L|MOV10_ENST00000369645.1_Missense_Mutation_p.P298L|MOV10_ENST00000357443.2_Missense_Mutation_p.P298L			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	298					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TACCCACCTCCCCGCCTCAGG	0.547000													40	31					0	0	0.006999	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389963	150389963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150389963G>A	ENST00000223293.5	+	3	683	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	197						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAAGTGAAGGAACTAATGGA	0.453000													29	59					0	0	0.002836	0	0
PIGQ	9091	broad.mit.edu	37	16	632295	632295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:632295C>T	ENST00000321878.5	+	10	1738	c.1579C>T	c.(1579-1581)Cgc>Tgc	p.R527C	PIGQ_ENST00000409527.2_Missense_Mutation_p.R527C|PIGQ_ENST00000026218.5_Intron	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	0	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CAGGCCCCTCCGCCTCCTGAT	0.697000													6	9					0	0	0.001984	0	0
WDR6	11180	broad.mit.edu	37	3	49049302	49049302	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:49049302T>G	ENST00000395474.3	+	2	705	c.425T>G	c.(424-426)cTg>cGg	p.L142R	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.L61R|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	112					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CGCTCTGGCCTGTGGAACATG	0.547000													31	69					0	0	0.002445	0	0
KCNT1	57582	broad.mit.edu	37	9	138675892	138675892	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:138675892A>G	ENST00000298480.5	+	25	2938	c.2864A>G	c.(2863-2865)aAc>aGc	p.N955S	KCNT1_ENST00000491806.2_Missense_Mutation_p.N922S|KCNT1_ENST00000488444.2_Missense_Mutation_p.N936S|KCNT1_ENST00000490355.2_Missense_Mutation_p.N934S|KCNT1_ENST00000371757.2_Missense_Mutation_p.N955S|KCNT1_ENST00000263604.3_Missense_Mutation_p.N936S|KCNT1_ENST00000487664.1_Missense_Mutation_p.N910S|KCNT1_ENST00000486577.2_Missense_Mutation_p.N914S			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	955						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AATGGCTCCAACCTGGCCTTC	0.662000													13	11					0	0	0.003163	0	0
OR9G4	283189	broad.mit.edu	37	11	56510657	56510657	+	Missense_Mutation	SNP	C	C	T	rs147669235		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56510657C>T	ENST00000302957.3	-	1	630	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E211K(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGGACTTTTTCGTAGACCCTG	0.438000													12	36					0	0	0.001368	0	0
NOL4	8715	broad.mit.edu	37	18	31599502	31599502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:31599502C>T	ENST00000261592.5	-	6	1133	c.836G>A	c.(835-837)gGg>gAg	p.G279E	NOL4_ENST00000269185.4_Missense_Mutation_p.G165E|NOL4_ENST00000535384.1_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.G279E|NOL4_ENST00000535475.1_Missense_Mutation_p.G124E|NOL4_ENST00000538587.1_Missense_Mutation_p.G205E	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	279						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GTGTGTTCCCCCTGAAGCAAT	0.463000													21	28					0	0	0.002299	0	0
SAMD11	148398	broad.mit.edu	37	1	865649	865649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:865649C>T	ENST00000342066.3	+	3	270	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	AL645608.1_ENST00000598827.1_Silent_p.G31G	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	63						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CGGGAGTGGCCCCACCTGTGG	0.637000													7	9					0	0	0.003080	0	0
OR4D2	124538	broad.mit.edu	37	17	56247058	56247058	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:56247058C>T	ENST00000545221.1	+	1	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F14L(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACTTTGTCTTCCTGGGGCTCT	0.458000													43	88					0	0	0.003610	0	0
CATSPERG	57828	broad.mit.edu	37	19	38852894	38852894	+	Silent	SNP	G	G	A	rs150226178		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38852894G>A	ENST00000409235.3	+	18	2254	c.2139G>A	c.(2137-2139)gcG>gcA	p.A713A	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.A673A|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	713					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GCTGGTGGGCGAACAACAAAC	0.716000													11	7					0	0	0.000978	0	0
CSMD3	114788	broad.mit.edu	37	8	113347561	113347561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:113347561G>A	ENST00000297405.5	-	45	7406	c.7162C>T	c.(7162-7164)Cac>Tac	p.H2388Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.H2284Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2318Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2348Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2388	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCAACCGTGATAACTGAGC	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	27					0	0	0.001368	0	0
LRP1B	53353	broad.mit.edu	37	2	141079576	141079576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:141079576C>T	ENST00000389484.3	-	82	13567	c.12596G>A	c.(12595-12597)gGa>gAa	p.G4199E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4199					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAATATTTTCCTTCTGGACA	0.358000										TSP Lung(27;0.18)			25	31					0	0	0.003954	0	0
ARNTL	406	broad.mit.edu	37	11	13407317	13407317	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:13407317T>C	ENST00000401424.1	+	19	2096	c.1570T>C	c.(1570-1572)Tct>Cct	p.S524P	ARNTL_ENST00000361003.4_Missense_Mutation_p.S449P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000403290.1_Missense_Mutation_p.S567P|ARNTL_ENST00000389707.4_Missense_Mutation_p.S566P|ARNTL_ENST00000396441.3_Missense_Mutation_p.S566P|ARNTL_ENST00000403482.3_Missense_Mutation_p.S565P|ARNTL_ENST00000403510.3_Missense_Mutation_p.S523P	NM_001030273.1	NP_001025444.1	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	567					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TTATCCATATTCTGATAGTTC	0.398000													26	50					0	0	0.004656	0	0
MYO5C	55930	broad.mit.edu	37	15	52539675	52539675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:52539675G>A	ENST00000261839.7	-	15	2022	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	621	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACTGTGGTCCGGAAATGCTTG	0.498000													58	83					0	0	0.003610	0	0
ZNF202	7753	broad.mit.edu	37	11	123600426	123600426	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:123600426G>A	ENST00000336139.4	-	4	872	c.510C>T	c.(508-510)acC>acT	p.T170T	ZNF202_ENST00000529691.1_Silent_p.T170T|ZNF202_ENST00000530393.1_Silent_p.T170T			O95125	ZN202_HUMAN	zinc finger protein 202	170					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACTGCTCGGGGGTCGAGCTTT	0.597000													18	10					0	0	0.006122	0	0
DGKB	1607	broad.mit.edu	37	7	14613939	14613939	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:14613939G>A	ENST00000403951.2	-	20	2090	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	DGKB_ENST00000406247.3_Silent_p.I557I|DGKB_ENST00000258767.5_Silent_p.I557I|DGKB_ENST00000402815.1_Silent_p.I556I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Silent_p.I538I|DGKB_ENST00000407950.1_Silent_p.I549I|DGKB_ENST00000399322.3_Silent_p.I557I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	557	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGTCCAACATGATTTCTGTGC	0.368000													54	113					0	0	0.003610	0	0
RBM10	8241	broad.mit.edu	37	X	47034426	47034426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:47034426C>T	ENST00000377604.3	+	6	1253	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Missense_Mutation_p.R94W|RBM10_ENST00000329236.7_Missense_Mutation_p.R94W	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	171	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGGTCAGAGCCGGGGCTTCGC	0.592000													23	4					0	0	0.003330	0	0
TNKS	8658	broad.mit.edu	37	8	9563713	9563713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:9563713C>T	ENST00000310430.6	+	7	1245	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	TNKS_ENST00000518281.1_Missense_Mutation_p.H170Y|TNKS_ENST00000520408.1_Missense_Mutation_p.H407Y|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	407					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGTGCCTCTTCATAATGCATG	0.279000													41	69					0	0	0.003610	0	0
NUMBL	9253	broad.mit.edu	37	19	41188839	41188839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:41188839C>T	ENST00000252891.4	-	4	451	c.284G>A	c.(283-285)gGa>gAa	p.G95E	NUMBL_ENST00000598779.1_Missense_Mutation_p.G54E|NUMBL_ENST00000540131.1_Missense_Mutation_p.G54E	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	95	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CACGTGCATTCCCCGGGACTC	0.592000													30	44					0	0	0.002836	0	0
MYOCD	93649	broad.mit.edu	37	17	12666536	12666536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:12666536C>T	ENST00000425538.1	+	14	2736	c.2536C>T	c.(2536-2538)Ccc>Tcc	p.P846S	MYOCD_ENST00000343344.4_Missense_Mutation_p.P798S|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	798					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCTTTGATCCCTATGCCAC	0.502000													36	38					0	0	0.004878	0	0
TLL2	7093	broad.mit.edu	37	10	98146728	98146728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:98146728C>T	ENST00000357947.3	-	14	2059	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	612	EGF-like 1; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ATCTTCTTATCGGCGGCCAGC	0.577000													46	57					0	0	0.003610	0	0
ABCC4	10257	broad.mit.edu	37	13	95813565	95813565	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:95813565A>G	ENST00000376887.4	-	19	2447	c.2333T>C	c.(2332-2334)tTt>tCt	p.F778S	ABCC4_ENST00000412704.1_Missense_Mutation_p.F731S|ABCC4_ENST00000536256.1_Missense_Mutation_p.F703S|ABCC4_ENST00000431522.1_Missense_Mutation_p.F778S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	778	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGCTATGCCAAAAAGAACGGT	0.363000													15	38					0	0	0.007413	0	0
DSG3	1830	broad.mit.edu	37	18	29049078	29049078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29049078G>A	ENST00000257189.4	+	12	1746	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	555					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAGCCCAGGAACAGATACC	0.473000													34	98					0	0	0.003755	0	0
CACNA2D1	781	broad.mit.edu	37	7	81598213	81598213	+	Silent	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:81598213A>C	ENST00000356860.3	-	29	2723	c.2385T>G	c.(2383-2385)ctT>ctG	p.L795L	CACNA2D1_ENST00000535308.1_Intron|CACNA2D1_ENST00000356253.5_Silent_p.L807L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	807						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTGCAGGTTTAAGAAGTTTCC	0.284000													26	75					0	0	0.002445	0	0
PCED1B	91523	broad.mit.edu	37	12	47629003	47629003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:47629003G>A	ENST00000546455.1	+	4	888	c.157G>A	c.(157-159)Gag>Aag	p.E53K	PCED1B_ENST00000432328.1_Missense_Mutation_p.E53K					PC-esterase domain containing 1B																		AGCAAGGGGGGAGCTGAACTT	0.612000													15	35					0	0	0.003163	0	0
SACS	26278	broad.mit.edu	37	13	23911201	23911201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:23911201C>T	ENST00000382298.3	-	10	7402	c.6814G>A	c.(6814-6816)Ggt>Agt	p.G2272S	SACS_ENST00000402364.1_Missense_Mutation_p.G1522S|SACS_ENST00000382292.3_Missense_Mutation_p.G2272S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2272					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GACACTGAACCACAACCTCTA	0.353000													18	37					0	0	0.007413	0	0
CDKL3	51265	broad.mit.edu	37	5	133644076	133644076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:133644076G>A	ENST00000521118.1	-	9	1231	c.1117C>T	c.(1117-1119)Cca>Tca	p.P373S	CDKL3_ENST00000523832.1_Missense_Mutation_p.P373S|CDKL3_ENST00000435240.2_Missense_Mutation_p.P78S|CDKL3_ENST00000521755.1_3'UTR|CDKL3_ENST00000536186.1_Missense_Mutation_p.P78S|CDKL3_ENST00000523054.1_Missense_Mutation_p.P184S|CDKL3_ENST00000435211.1_Missense_Mutation_p.P373S|CDKL3_ENST00000265334.4_Missense_Mutation_p.P373S|CDKL3_ENST00000518409.1_5'UTR			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	373						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTTTTTTGGTTCTGAGATA	0.373000													26	29					0	0	0.003954	0	0
POTEH	23784	broad.mit.edu	37	22	16287790	16287790	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:16287790G>A	ENST00000343518.6	-	1	147	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	32										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCACCAGGCGAAGCAGTGGC	0.582000													86	560					0	0	0.003610	0	0
TANGO6	79613	broad.mit.edu	37	16	68894226	68894226	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:68894226C>T	ENST00000261778.1	+	2	546	c.534C>T	c.(532-534)gtC>gtT	p.V178V		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TTGGTGCCGTCGTTCAAGACG	0.498000													47	133					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179606574	179606574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179606574C>T	ENST00000589042.1	-	48	11610	c.11386G>A	c.(11386-11388)Gaa>Aaa	p.E3796K	TTN_ENST00000359218.5_Missense_Mutation_p.E3558K|TTN_ENST00000342175.6_Missense_Mutation_p.E3625K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E3479K|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.E3433K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3479							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)			TCAAGTGTTTCATTTATTTTA	0.363000													9	8					0	0	0.004482	0	0
CAT	847	broad.mit.edu	37	11	34470872	34470872	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:34470872A>T	ENST00000241052.4	+	2	289	c.200A>T	c.(199-201)gAg>gTg	p.E67V		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	67					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTTGACCGAGAGAGAATTCCT	0.438000													29	64					0	0	0.002096	0	0
CAPN10	11132	broad.mit.edu	37	2	241534054	241534054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:241534054C>T	ENST00000391984.2	+	6	1121	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	CAPN10_ENST00000354082.4_Missense_Mutation_p.L309F|CAPN10_ENST00000404753.3_Missense_Mutation_p.L309F|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Missense_Mutation_p.L309F	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	309	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGAGGAGTTCCTCAGGGAGTT	0.637000													63	46					0	0	0.003610	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142119855	142119855	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:142119855C>T	ENST00000390377.1	-	0	311																											TGGCTGAGTCCCGCTGCTCTG	0.562000													24	54					0	0	0.005443	0	0
ACVRL1	94	broad.mit.edu	37	12	52312866	52312866	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:52312866C>T	ENST00000550683.1	+	8	1487	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	ACVRL1_ENST00000419526.2_Silent_p.T274T|ACVRL1_ENST00000388922.4_Silent_p.T448T	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	448	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATCAGCAGACCCCCACCATCC	0.602000													18	36					0	0	0.008871	0	0
CDO1	1036	broad.mit.edu	37	5	115142174	115142174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:115142174C>T	ENST00000250535.4	-	4	1001	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	149					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	ACAGCAGGTTCCGTATGGCTG	0.408000													14	28					0	0	0.003163	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892299	9892299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:9892299C>T	ENST00000396573.2	-	12	2500	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N	GRIN2A_ENST00000330684.3_Missense_Mutation_p.D731N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D731N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D731N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D574N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D731N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	731					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACTGCGGCATCGTAGATGAAA	0.562000													10	37					0	0	0.001368	0	0
KRT35	3886	broad.mit.edu	37	17	39633394	39633394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:39633394G>A	ENST00000246639.2	-	7	1324	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S	KRT35_ENST00000393989.1_Missense_Mutation_p.P428S			Q92764	KRT35_HUMAN	keratin 35	428	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GAGGCCGCAGGAAGACAGGGA	0.572000													26	67					0	0	0.003954	0	0
GPR116	221395	broad.mit.edu	37	6	46849835	46849835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:46849835C>T	ENST00000283296.7	-	7	910	c.622G>A	c.(622-624)Ggt>Agt	p.G208S	GPR116_ENST00000265417.7_Missense_Mutation_p.G208S|GPR116_ENST00000456426.2_Missense_Mutation_p.G208S|GPR116_ENST00000362015.4_Missense_Mutation_p.G208S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	208	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTCCGTAACCCTTCCGGAAC	0.368000													40	72					0	0	0.007835	0	0
PUM1	9698	broad.mit.edu	37	1	31438843	31438843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:31438843C>T	ENST00000373747.3	-	13	2174	c.2075G>A	c.(2074-2076)gGg>gAg	p.G692E	PUM1_ENST00000373741.4_Missense_Mutation_p.G727E|PUM1_ENST00000373742.2_Missense_Mutation_p.G632E|PUM1_ENST00000257075.5_Missense_Mutation_p.G691E|PUM1_ENST00000440538.2_Missense_Mutation_p.G665E|PUM1_ENST00000426105.2_Missense_Mutation_p.G691E|PUM1_ENST00000424085.2_Missense_Mutation_p.G449E|PUM1_ENST00000423018.2_Missense_Mutation_p.G547E	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	691	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGTTCCAAACCCTCCAAGGGC	0.493000													29	63					0	0	0.006320	0	0
OGDHL	55753	broad.mit.edu	37	10	50948771	50948771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:50948771C>T	ENST00000374103.4	-	16	2210	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	OGDHL_ENST00000432695.1_Missense_Mutation_p.E500K|OGDHL_ENST00000419399.1_Missense_Mutation_p.E652K	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	709					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACTCCGTACTCCGAGAGGGAG	0.647000													8	26					0	0	0.004482	0	0
CECR2	27443	broad.mit.edu	37	22	18028387	18028387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:18028387C>T	ENST00000262608.8	+	16	3347	c.3347C>T	c.(3346-3348)cCa>cTa	p.P1116L	CECR2_ENST00000400585.2_Missense_Mutation_p.P973L|CECR2_ENST00000400573.4_Missense_Mutation_p.P1115L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1157					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CACATCAGTCCAGGCCTGCAG	0.587000													10	18					0	0	0.008291	0	0
RALGAPB	57148	broad.mit.edu	37	20	37202877	37202877	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:37202877C>T	ENST00000262879.6	+	29	4511	c.4227C>T	c.(4225-4227)gcC>gcT	p.A1409A	RALGAPB_ENST00000397038.1_Silent_p.A1188A|RALGAPB_ENST00000397042.3_Silent_p.A1406A|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397040.1_Silent_p.A1409A			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1409					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCAAGGAGCCACTGGAAAAT	0.383000													35	99					0	0	0.003271	0	0
TMEM259	91304	broad.mit.edu	37	19	1013325	1013325	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:1013325G>A	ENST00000356663.3	-	3	643	c.522C>T	c.(520-522)atC>atT	p.I174I	TMEM259_ENST00000333175.5_Silent_p.I174I	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		CCTTGGGCTCGATGTCCAGCT	0.632000													24	48					0	0	0.003330	0	0
ARID3A	1820	broad.mit.edu	37	19	971922	971922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:971922C>T	ENST00000263620.3	+	9	1966	c.1639C>T	c.(1639-1641)Ccc>Tcc	p.P547S		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	547	Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCTCTGCTCCCAACAAAGG	0.662000													26	42					0	0	0.004656	0	0
COL4A4	1286	broad.mit.edu	37	2	227914842	227914842	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:227914842C>T	ENST00000396625.3	-	34	3363	c.3156G>A	c.(3154-3156)gaG>gaA	p.E1052E	COL4A4_ENST00000329662.7_Silent_p.E1052E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1052	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GAGAACCTGGCTCACCCTGAC	0.408000													34	42					0	0	0.004878	0	0
RNASE4	6038	broad.mit.edu	37	14	21167874	21167874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21167874C>T	ENST00000555835.1	+	2	1020	c.344C>T	c.(343-345)tCc>tTc	p.S115F	AL163636.6_ENST00000553909.1_RNA|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Missense_Mutation_p.S115F|RNASE4_ENST00000304704.4_Missense_Mutation_p.S115F|RNASE4_ENST00000555597.1_Missense_Mutation_p.S115F	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	115					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		ACAGGAAGTTCCAGGGCACCC	0.527000													45	95					0	0	0.003610	0	0
SCAP	22937	broad.mit.edu	37	3	47458865	47458865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:47458865C>T	ENST00000265565.5	-	17	3311	c.2899G>A	c.(2899-2901)Gag>Aag	p.E967K	SCAP_ENST00000441517.2_Missense_Mutation_p.E711K|SCAP_ENST00000545718.1_Missense_Mutation_p.E574K	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	967	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		ATGGAACCCTCGGCACTGGGG	0.716000													4	8					0	0	0.000602	0	0
IGSF10	285313	broad.mit.edu	37	3	151155680	151155680	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:151155680G>A	ENST00000282466.3	-	6	6668	c.6669C>T	c.(6667-6669)acC>acT	p.T2223T	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2223	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTACATTTTGGTGTCATCCC	0.418000													17	69					0	0	0.004007	0	0
SCG2	7857	broad.mit.edu	37	2	224462184	224462184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:224462184C>T	ENST00000305409.2	-	2	2049	c.1817G>A	c.(1816-1818)aGg>aAg	p.R606K		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	606					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AATATGCTCCCTTCCCTTTTC	0.423000													8	88					0	0	0.004482	0	0
ACSL6	23305	broad.mit.edu	37	5	131307271	131307271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:131307271C>T	ENST00000379264.2	-	14	1514	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	ACSL6_ENST00000431707.1_Missense_Mutation_p.G424E|ACSL6_ENST00000379244.1_Missense_Mutation_p.G444E|ACSL6_ENST00000544770.1_Missense_Mutation_p.G353E|ACSL6_ENST00000379240.1_Missense_Mutation_p.G444E|ACSL6_ENST00000379272.2_Missense_Mutation_p.G459E|ACSL6_ENST00000296869.4_Missense_Mutation_p.G469E|ACSL6_ENST00000357096.1_Missense_Mutation_p.G369E|ACSL6_ENST00000543479.1_Missense_Mutation_p.G444E|ACSL6_ENST00000379249.3_Missense_Mutation_p.G444E|ACSL6_ENST00000379255.1_Missense_Mutation_p.G369E|ACSL6_ENST00000379246.1_Missense_Mutation_p.G455E	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	444					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGGAGAAATCCCAGAACTGT	0.512000													10	13					0	0	0.000978	0	0
ZNF251	90987	broad.mit.edu	37	8	145948764	145948764	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:145948764G>T	ENST00000292562.7	-	5	556	c.281C>A	c.(280-282)tCt>tAt	p.S94Y	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CCCAACCTCAGAATCTGTTAA	0.338000													4	13					0.00024832	0.000274122	0.000248	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553181	140553181	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140553181C>T	ENST00000231137.3	+	1	939	c.765C>T	c.(763-765)agC>agT	p.S255S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		255	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAAAATAGCCCCGTTGGTT	0.507000													14	49					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179425011	179425011	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179425011C>T	ENST00000589042.1	-	326	86072	c.85848G>A	c.(85846-85848)cgG>cgA	p.R28616R	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.R19676R|TTN_ENST00000342175.6_Silent_p.R19743R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.R26975R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.R26048R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.R19551R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26975	Fibronectin type-III 108.						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)			CACATCCTTCCCGAAGTCCTG	0.398000													37	36					0	0	0.007835	0	0
MYH6	4624	broad.mit.edu	37	14	23855289	23855289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:23855289C>T	ENST00000405093.3	-	34	5081	c.5011G>A	c.(5011-5013)Gag>Aag	p.E1671K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1671K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1671					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)		GCGATGTTCTCCTTCAGGTCG	0.642000													18	40					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179595817	179595817	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179595817C>G	ENST00000589042.1	-	60	17799	c.17575G>C	c.(17575-17577)Gat>Cat	p.D5859H	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D5542H|TTN_ENST00000342992.6_Missense_Mutation_p.D4615H|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5542	Ig-like 39.						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)			TCTTGGCCATCTTTAAACCAT	0.413000													34	67					0	0	0.002445	0	0
MGAM	8972	broad.mit.edu	37	7	141740561	141740561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141740561G>A	ENST00000475668.2	+	21	2467	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K	MGAM_ENST00000549489.2_Missense_Mutation_p.E805K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	805	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGTCGAGATGGAACTTCCTGG	0.478000													15	16					0	0	0.002450	0	0
MYH11	4629	broad.mit.edu	37	16	15818560	15818560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:15818560C>T	ENST00000338282.6	-	30	4166	c.4060G>A	c.(4060-4062)Gag>Aag	p.E1354K	NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396354.1_3'UTR|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000342673.5_3'UTR|MYH11_ENST00000452625.2_Missense_Mutation_p.E1361K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1361K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1354K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1354K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1354					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCATCTCCTCGTCCAGCTGG	0.592000			T	CBFB	AML								76	85					0	0	0.003610	0	0
EMB	133418	broad.mit.edu	37	5	49695120	49695120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:49695120G>A	ENST00000303221.5	-	9	1186	c.971C>T	c.(970-972)tCt>tTt	p.S324F	EMB_ENST00000514111.1_Missense_Mutation_p.S274F|EMB_ENST00000508934.1_Missense_Mutation_p.S270F	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	324						integral to membrane		p.S324C(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CTGGCCCAGAGACTCCTGAGT	0.338000													16	39					0	0	0.008871	0	0
PTPRB	5787	broad.mit.edu	37	12	70956870	70956870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:70956870C>T	ENST00000334414.6	-	16	3966	c.3922G>A	c.(3922-3924)Gac>Aac	p.D1308N	PTPRB_ENST00000538708.1_Missense_Mutation_p.D1000N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1000N|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1000N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1090N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1307N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1220N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1090	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCCTCAGGTCGGTGACAGCT	0.557000													4	10					0	0	0.000248	0	0
MKX	283078	broad.mit.edu	37	10	28024185	28024185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28024185C>T	ENST00000375790.5	-	4	899	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	MKX_ENST00000419761.1_Missense_Mutation_p.R156Q			Q8IYA7	MKX_HUMAN	mohawk homeobox	156					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TACGCTAAGCCGTTCAGCATT	0.378000													30	66					0	0	0.007291	0	0
SHD	56961	broad.mit.edu	37	19	4280097	4280097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:4280097G>A	ENST00000543264.2	+	1	1500	c.37G>A	c.(37-39)Ggt>Agt	p.G13S	SHD_ENST00000599689.1_Missense_Mutation_p.G13S	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	13										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCTTTGGGGGTCGGAGGCC	0.677000													9	18					0	0	0.008291	0	0
FLG	2312	broad.mit.edu	37	1	152275195	152275195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:152275195C>T	ENST00000368799.1	-	3	12202	c.12167G>A	c.(12166-12168)aGa>aAa	p.R4056K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	4056					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAATAGTATCTCTGTGACTG	0.328000									Ichthyosis				22	37					0	0	0.003330	0	0
OR5K1	26339	broad.mit.edu	37	3	98188480	98188480	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:98188480C>T	ENST00000332650.5	+	1	157	c.60C>T	c.(58-60)caC>caT	p.H20H		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTACAGATCACCCTGAGCTGA	0.418000													58	38					0	0	0.003610	0	0
KDR	3791	broad.mit.edu	37	4	55981484	55981484	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:55981484G>A	ENST00000263923.4	-	4	748	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	151	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.L151R(1)|p.L151L(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAATGGACCCGAGACATGGAA	0.368000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			13	28					0	0	0.002450	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580054	35580054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:35580054C>T	ENST00000373330.1	+	11	2797	c.2623C>T	c.(2623-2625)Ctt>Ttt	p.L875F	ZMYM1_ENST00000359858.4_Missense_Mutation_p.L875F|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	875						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACAGGAATTCTTTCCAAAGA	0.318000													8	33					0	0	0.003080	0	0
ANKMY1	51281	broad.mit.edu	37	2	241465154	241465154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:241465154G>A	ENST00000391987.1	-	7	1382	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	ANKMY1_ENST00000405002.1_Missense_Mutation_p.P109L|ANKMY1_ENST00000361678.4_Missense_Mutation_p.P198L|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P428L|ANKMY1_ENST00000373318.2_Missense_Mutation_p.P198L|ANKMY1_ENST00000403283.1_Missense_Mutation_p.P277L|ANKMY1_ENST00000405523.3_Missense_Mutation_p.P198L|ANKMY1_ENST00000536462.1_Missense_Mutation_p.P151L|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P339L|ANKMY1_ENST00000406958.1_Missense_Mutation_p.P198L|ANKMY1_ENST00000373320.4_Missense_Mutation_p.P109L			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	339							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGACTGGGCGGGGTAGTGGAG	0.577000													11	39					0	0	0.000978	0	0
RBMS2	5939	broad.mit.edu	37	12	56980652	56980652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:56980652C>T	ENST00000262031.5	+	10	988	c.893C>T	c.(892-894)cCt>cTt	p.P298L	RBMS2_ENST00000550726.1_Missense_Mutation_p.P173L|RBMS2_ENST00000542360.1_Missense_Mutation_p.P153L|RBMS2_ENST00000552247.2_Intron	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	298					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CAGACATCTCCTCTACAAGTA	0.413000													51	91					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25304622	25304622	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:25304622G>A	ENST00000549804.2	+	0	98																											AGGTCTTTAAGGTCGTCAGCT	0.502000													5	42					0	0	0.000602	0	0
SPEM1	374768	broad.mit.edu	37	17	7323961	7323961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:7323961C>T	ENST00000323675.3	+	2	185	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	54					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GAGCCGATTCCGTGGTGTCTT	0.582000													33	28					0	0	0.002445	0	0
CHAT	1103	broad.mit.edu	37	10	50873084	50873084	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:50873084C>A	ENST00000395562.2	+	16	2462	c.1993C>A	c.(1993-1995)Caa>Aaa	p.Q665K	CHAT_ENST00000455728.2_Intron|CHAT_ENST00000395559.2_Missense_Mutation_p.Q629K|CHAT_ENST00000337653.2_Missense_Mutation_p.Q747K|CHAT_ENST00000339797.1_Missense_Mutation_p.Q629K|CHAT_ENST00000351556.3_Missense_Mutation_p.Q629K	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	747					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCAGGGACACCAACCTTGACT	0.572000													14	60					4.93089e-13	5.49695e-13	0.002450	1	0
SCAND3	114821	broad.mit.edu	37	6	28541028	28541028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:28541028C>T	ENST00000452236.2	-	4	3255	c.2638G>A	c.(2638-2640)Gaa>Aaa	p.E880K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	880					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttagccagttcctgaatacgt	0.383000													38	71					0	0	0.008740	0	0
JUP	3728	broad.mit.edu	37	17	39777023	39777023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:39777023G>A	ENST00000540235.1	-	9	1545	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	KRT17_ENST00000311208.8_Missense_Mutation_p.R357C			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ATCTCGCAGCGAAGCTGGGCC	0.627000													26	41					0	0	0.004656	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535268	96535268	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:96535268C>T	ENST00000371321.3	+	3	535	c.453C>T	c.(451-453)tgC>tgT	p.C151C	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	151					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAGCCCGCTGCCTTGTGGAGG	0.507000													63	77					0	0	0.003610	0	0
MYO1F	4542	broad.mit.edu	37	19	8604837	8604837	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:8604837C>T	ENST00000338257.8	-	16	1953	c.1686G>A	c.(1684-1686)aaG>aaA	p.K562K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	562	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACCTTGATCTTGGAGCCGG	0.632000													24	28					0	0	0.007291	0	0
UNC13C	440279	broad.mit.edu	37	15	54307723	54307723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:54307723G>A	ENST00000545554.1	+	1	2623	c.2623G>A	c.(2623-2625)Gaa>Aaa	p.E875K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E875K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E875K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	875					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCTGACAATGAAACAGATTA	0.388000													31	51					0	0	0.008361	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561910	145561910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:145561910C>T	ENST00000355594.4	+	10	1685	c.1598C>T	c.(1597-1599)gCc>gTc	p.A533V		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	533	Poly-Ala.									NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCAGCAGCTGCCTGGGAGAAG	0.632000													52	107					0	0	0.003610	0	0
TMEM131	23505	broad.mit.edu	37	2	98411450	98411450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:98411450G>A	ENST00000186436.5	-	29	3557	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1110						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCTGGGTAGGGCTTCTGCACA	0.388000													5	19					0	0	0.000602	0	0
RASA2	5922	broad.mit.edu	37	3	141291480	141291480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:141291480C>T	ENST00000286364.3	+	12	1234	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	RASA2_ENST00000452898.1_Missense_Mutation_p.S400F			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	400	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	p.S400F(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGAGGAAATTCCCTGGCTACC	0.343000													18	22					0	0	0.007413	0	0
SOBP	55084	broad.mit.edu	37	6	107954978	107954978	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:107954978G>A	ENST00000317357.5	+	6	1589	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	310							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCGGAGGAAGGCCCCCTCCC	0.602000													23	33					0	0	0.002299	0	0
PABPC1L	80336	broad.mit.edu	37	20	43550244	43550244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:43550244C>T	ENST00000255136.3	+	6	830	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	PABPC1L_ENST00000217074.4_Missense_Mutation_p.H250Y|PABPC1L_ENST00000217073.2_Missense_Mutation_p.H250Y|PABPC1L_ENST00000537323.1_Missense_Mutation_p.H250Y	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	250	RRM 3.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCCGTGGTCCATATGAACGG	0.612000													47	117					0	0	0.003610	0	0
KCNK18	338567	broad.mit.edu	37	10	118969163	118969163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:118969163C>T	ENST00000334549.1	+	3	508	c.508C>T	c.(508-510)Cct>Tct	p.P170S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	170						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCGAAAATTCCCTTTCTTTAC	0.507000													58	66					0	0	0.003610	0	0
HPS4	89781	broad.mit.edu	37	22	26849355	26849355	+	Silent	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:26849355A>C	ENST00000398145.2	-	14	2587	c.1971T>G	c.(1969-1971)gcT>gcG	p.A657A	HPS4_ENST00000402105.3_Silent_p.A652A|HPS4_ENST00000398141.1_Silent_p.A670A|HPS4_ENST00000336873.5_Silent_p.A657A|HPS4_ENST00000493455.2_Intron	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	657					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AGGCGTACACAGCCGTGGAGG	0.552000									Hermansky-Pudlak syndrome				33	63					0	0	0.004289	0	0
PLIN4	729359	broad.mit.edu	37	19	4512668	4512668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:4512668G>A	ENST00000301286.3	-	3	1261	c.1262C>T	c.(1261-1263)aCc>aTc	p.T421I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	421	27 X 33 AA approximate tandem repeat.		T -> A (in dbSNP:rs55901236).			lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCAGACGGTGTCCTTTGT	0.552000													45	66					0	0	0.003610	0	0
LRRC10	376132	broad.mit.edu	37	12	70003895	70003895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:70003895C>T	ENST00000361484.3	-	1	1047	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	242						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGCGTCTCCTCTGCCCATCTC	0.592000													26	39					0	0	0.004656	0	0
SLC6A18	348932	broad.mit.edu	37	5	1242957	1242957	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:1242957C>T	ENST00000324642.3	+	8	1233	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	370					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGGCCTGCCTCCTGGAAGACT	0.657000													24	48					0	0	0.005443	0	0
STON2	85439	broad.mit.edu	37	14	81862514	81862514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:81862514C>T	ENST00000555447.1	-	4	509	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	STON2_ENST00000267540.2_Missense_Mutation_p.E33K	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	33					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGTGCTCTTCCGTGCCCCCT	0.572000													12	20					0	0	0.002450	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181021	19181021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:19181021C>T	ENST00000375371.3	-	3	964	c.943G>A	c.(943-945)Gag>Aag	p.E315K	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	315					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGCGCAGCTCCGTGAGGTTG	0.657000													19	34					0	0	0.007413	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99052382	99052382	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:99052382C>A	ENST00000453547.2	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	ARHGAP19_ENST00000358531.4_Start_Codon_SNP_p.M1I|ARHGAP19-SLIT1_ENST00000316676.8_Start_Codon_SNP_p.M1I|ARHGAP19-SLIT1_ENST00000358308.3_Start_Codon_SNP_p.M1I																							CCTCAGTCGCCATCTTCGTCA	0.572000													8	37					0.000274275	0.000302595	0.004482	1	0
PRKCB	5579	broad.mit.edu	37	16	24192149	24192149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:24192149G>A	ENST00000303531.7	+	13	1585	c.1433G>A	c.(1432-1434)gGa>gAa	p.G478E	PRKCB_ENST00000321728.7_Missense_Mutation_p.G478E	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	478	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GATTCTGAGGGACACATCAAG	0.448000													11	74					0	0	0.000978	0	0
DCC	1630	broad.mit.edu	37	18	50918214	50918214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:50918214C>T	ENST00000442544.2	+	17	3261	c.2645C>T	c.(2644-2646)aCc>aTc	p.T882I	DCC_ENST00000412726.1_Missense_Mutation_p.T710I|DCC_ENST00000581580.1_Missense_Mutation_p.T517I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	882	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGACTTTACACCGTCCGGTGG	0.448000													30	40					0	0	0.007291	0	0
ABCC4	10257	broad.mit.edu	37	13	95858788	95858788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:95858788G>A	ENST00000376887.4	-	8	1273	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.Q387*|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.Q312*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.Q387*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	387					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ACACCAACCTGGATTCTTCGG	0.468000													36	56					0	0	0.006999	0	0
SIN3B	23309	broad.mit.edu	37	19	16977229	16977229	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:16977229C>T	ENST00000379803.1	+	13	1778	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	SIN3B_ENST00000248054.5_Silent_p.F556F|SIN3B_ENST00000595541.1_Silent_p.F146F	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	588	Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGCAGGGCTTCAACAAGATCT	0.607000													22	35					0	0	0.002299	0	0
MAP3K8	1326	broad.mit.edu	37	10	30747036	30747036	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:30747036C>T	ENST00000263056.1	+	7	1593	c.897C>T	c.(895-897)atC>atT	p.I299I	MAP3K8_ENST00000542547.1_Silent_p.I299I|MAP3K8_ENST00000375321.1_Silent_p.I299I	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	299	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CAGAGGTCATCCTGTGCAGGG	0.537000													32	35					0	0	0.006230	0	0
PTPRG	5793	broad.mit.edu	37	3	62142809	62142809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:62142809C>T	ENST00000474889.1	+	7	1128	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	PTPRG_ENST00000295874.10_Missense_Mutation_p.R251W	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	251	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGCTATTATCGGTACACAGG	0.512000													39	74					0	0	0.006230	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779173	31779173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:31779173C>T	ENST00000375654.4	-	2	766	c.577G>A	c.(577-579)Gga>Aga	p.G193R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G193R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	193					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTCGTTCTCCTTGACCTCCT	0.453000													190	353					0	0	0.003610	0	0
SLC9B2	133308	broad.mit.edu	37	4	103987640	103987640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:103987640C>T	ENST00000394785.3	-	3	746	c.115G>A	c.(115-117)Ggt>Agt	p.G39S	SLC9B2_ENST00000339611.4_Missense_Mutation_p.G39S|SLC9B2_ENST00000362026.3_Missense_Mutation_p.G39S|SLC9B2_ENST00000503103.1_Missense_Mutation_p.G39S|SLC9B2_ENST00000503230.1_Missense_Mutation_p.G39S|SLC9B2_ENST00000505838.1_5'UTR	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	39					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										GCATCTATACCTTTGAGCTTC	0.323000													28	68					0	0	0.008361	0	0
CTR9	9646	broad.mit.edu	37	11	10773005	10773005	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:10773005G>T	ENST00000361367.2	+	1	471		c.e1+1			NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component						histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CACTGACGAGGTAAGTGTCGT	0.622000													14	17					1.5739e-10	1.75196e-10	0.004007	1	0
LRRN1	57633	broad.mit.edu	37	3	3887534	3887534	+	Silent	SNP	C	C	T	rs113247781	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:3887534C>T	ENST00000319331.3	+	2	1970	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	403	LRRCT.					integral to membrane		p.P403P(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCATGCCGCCCGAATATAAAG	0.493000													20	77					0	0	0.008871	0	0
ZNF536	9745	broad.mit.edu	37	19	30935917	30935917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:30935917G>A	ENST00000355537.3	+	2	1595	c.1448G>A	c.(1447-1449)gGg>gAg	p.G483E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTCCCGGAGGGGGACAAGCAC	0.652000													24	51					0	0	0.003954	0	0
PKD2	5311	broad.mit.edu	37	4	88959628	88959628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:88959628C>T	ENST00000237596.2	+	4	1135	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	357						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGATAGGGCTCCCTTTGGGCC	0.458000													33	69					0	0	0.004289	0	0
OR6C65	403282	broad.mit.edu	37	12	55794584	55794584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:55794584C>T	ENST00000379665.2	+	1	371	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S91F(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ACAACCATTTCCTATAATGCT	0.353000													33	59					0	0	0.004289	0	0
HTR1A	3350	broad.mit.edu	37	5	63256578	63256578	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:63256578C>T	ENST00000323865.3	-	1	1202	c.969G>A	c.(967-969)agG>agA	p.R323R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	323					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCTCATTTTTCCTCTCGAAAG	0.607000													28	53					0	0	0.001786	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811415	5811415	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:5811415T>A	ENST00000381095.3	-	6	2521	c.1894A>T	c.(1894-1896)Ata>Tta	p.I632L	NLGN4X_ENST00000275857.6_Missense_Mutation_p.I632L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.I632L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.I632L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I652L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	632					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTTGGCCATATCTTGGCGGGA	0.502000													29	53					0	0	0.003755	0	0
SOBP	55084	broad.mit.edu	37	6	107955595	107955595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:107955595C>T	ENST00000317357.5	+	6	2206	c.1547C>T	c.(1546-1548)cCg>cTg	p.P516L		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	516	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCGCTTGCCCCGCTGGTGCCG	0.677000													4	2					0	0	0.000602	0	0
SLC8A1	6546	broad.mit.edu	37	2	40405527	40405527	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:40405527C>T	ENST00000542756.1	-	3	1938	c.1915_splice	c.e3+1	p.A639_splice	SLC8A1_ENST00000332839.4_Splice_Site_p.A639_splice|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000403092.1_Splice_Site_p.A639_splice|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000405901.3_Splice_Site_p.A639_splice|SLC8A1-AS1_ENST00000435515.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	639					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTCCCCCACCTTTCTTCTCA	0.512000													89	80					0	0	0.003610	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115861	220115861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:220115861G>A	ENST00000392088.2	-	4	1070	c.515C>T	c.(514-516)tCt>tTt	p.S172F	TUBA4A_ENST00000248437.4_Missense_Mutation_p.S187F|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	187					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAGGATAGAGTTGTAGGG	0.552000													40	63					0	0	0.008740	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881021	142881021	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:142881021C>T	ENST00000446620.1	+	1	510	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	170					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTATTTCCTTCAGTCACAGCA	0.433000													29	54					0	0	0.005443	0	0
TRHDE	29953	broad.mit.edu	37	12	72956677	72956677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:72956677G>A	ENST00000261180.4	+	9	1860	c.1764G>A	c.(1762-1764)atG>atA	p.M588I	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	588					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAGAAGTAATGGATCAGTGGA	0.303000													20	81					0	0	0.002299	0	0
PTX4	390667	broad.mit.edu	37	16	1537410	1537410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:1537410C>T	ENST00000447419.2	-	2	728	c.703G>A	c.(703-705)Gag>Aag	p.E235K	PTX4_ENST00000293922.1_Missense_Mutation_p.E230K|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	235						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCTGGAGGCTCCCGCCTCCCT	0.662000													32	22					0	0	0.002445	0	0
GANC	2595	broad.mit.edu	37	15	42641675	42641675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:42641675C>T	ENST00000318010.8	+	22	2753	c.2513C>T	c.(2512-2514)tCc>tTc	p.S838F	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_5'UTR	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	838					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TCATTCTGTTCCAGTGTTCTG	0.398000													39	68					0	0	0.006999	0	0
MGMT	4255	broad.mit.edu	37	10	131565116	131565116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:131565116G>A	ENST00000306010.7	+	5	604	c.572G>A	c.(571-573)gGa>gAa	p.G191E		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	191										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		AACTACTCCGGAGGACTGGCC	0.652000								Direct reversal of damage					7	22					0	0	0.003080	0	0
USB1	79650	broad.mit.edu	37	16	58043978	58043978	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:58043978C>T	ENST00000219281.3	+	3	522	c.411C>T	c.(409-411)ttC>ttT	p.F137F	USB1_ENST00000423271.3_Silent_p.F137F|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000539737.2_Silent_p.F137F|USB1_ENST00000561743.1_Silent_p.F86F|USB1_ENST00000563149.1_Silent_p.F137F	NM_024598.3	NP_078874.2			U6 snRNA biogenesis 1																		TCCTCCCCTTCGTGCAGGCTC	0.602000													25	33					0	0	0.007291	0	0
CACNB2	783	broad.mit.edu	37	10	18828607	18828607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:18828607G>A	ENST00000396576.2	+	13	2273	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q	CACNB2_ENST00000377319.3_Missense_Mutation_p.R553Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.R592Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.R622Q|CACNB2_ENST00000324631.7_Missense_Mutation_p.R646Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.R598Q|CACNB2_ENST00000377328.1_Missense_Mutation_p.R396Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.R618Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.R594Q	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	646					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCAAAAAAACGGAATGAGGCT	0.428000													40	48					0	0	0.002852	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539882	169539882	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:169539882A>C	ENST00000340806.6	+	1	173	c.173A>C	c.(172-174)aAc>aCc	p.N58T		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	58										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGGAGAATAACCAGATTGAA	0.448000													28	75					0	0	0.007291	0	0
NCOA2	10499	broad.mit.edu	37	8	71039106	71039106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:71039106C>T	ENST00000452400.2	-	19	4039	c.3858G>A	c.(3856-3858)atG>atA	p.M1286I	NCOA2_ENST00000267974.4_Missense_Mutation_p.M374I	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1286					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGGGTTGCTCATAGTTGCTG	0.488000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								17	35					0	0	0.007413	0	0
CRIM1	51232	broad.mit.edu	37	2	36740728	36740728	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:36740728C>T	ENST00000280527.2	+	11	2177	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	604					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GCCACCCATCCTGTCGGGCAC	0.537000													49	54					0	0	0.003610	0	0
CCDC40	55036	broad.mit.edu	37	17	78073401	78073401	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:78073401C>T	ENST00000397545.4	+	20	3283	c.3256C>T	c.(3256-3258)Ctg>Ttg	p.L1086L		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1086					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTACGTGTTCCTGTTCCGCTC	0.607000													8	56					0	0	0.003080	0	0
FRAS1	80144	broad.mit.edu	37	4	79366681	79366681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:79366681C>T	ENST00000264895.6	+	42	6111	c.5671C>T	c.(5671-5673)Cgt>Tgt	p.R1891C	FRAS1_ENST00000325942.6_Missense_Mutation_p.R1891C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1890					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCAGGTGATCGTTTTGGCCC	0.393000													18	43					0	0	0.004990	0	0
C1orf94	84970	broad.mit.edu	37	1	34663070	34663070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34663070G>A	ENST00000488417.1	+	2	685	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	0							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAAGCAGAAGGTGGCCATGCC	0.572000													20	47					0	0	0.001882	0	0
AURKC	6795	broad.mit.edu	37	19	57743452	57743452	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57743452G>A	ENST00000302804.7	+	3	342	c.156G>A	c.(154-156)ggG>ggA	p.G52G	AURKC_ENST00000599062.1_Silent_p.G49G|AURKC_ENST00000415300.2_Silent_p.G33G|AURKC_ENST00000598785.1_Silent_p.G18G|AURKC_ENST00000448930.1_Silent_p.G18G	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	52	Protein kinase.		G -> E (in a lung adenocarcinoma sample; somatic mutation).		cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGGGCAAGGGGAAATTTGGGA	0.547000													16	43					0	0	0.006122	0	0
PKM	5315	broad.mit.edu	37	15	72502030	72502030	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:72502030G>A	ENST00000319622.6	-	5	1005	c.549C>T	c.(547-549)ctC>ctT	p.L183L	PKM_ENST00000568883.1_Intron|PKM_ENST00000449901.2_Silent_p.L168L|PKM_ENST00000565154.1_Silent_p.L183L|PKM_ENST00000389093.3_Silent_p.L183L|PKM_ENST00000565184.1_Silent_p.L183L|PKM_ENST00000335181.5_Silent_p.L183L|PKM_ENST00000568459.1_Silent_p.L183L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						GCTTCACCTGGAGAGAAATAA	0.473000													69	131					0	0	0.003610	0	0
IL16	3603	broad.mit.edu	37	15	81578072	81578072	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:81578072C>T	ENST00000394660.2	+	10	1593	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	IL16_ENST00000302987.4_Silent_p.S411S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	411	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCAGTGATTCCCCTGTGCACT	0.507000													36	55					0	0	0.004289	0	0
OR51I2	390064	broad.mit.edu	37	11	5475610	5475610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5475610G>A	ENST00000341449.2	+	1	973	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGACAAAGGAAATCCGCCG	0.438000													58	113					0	0	0.003610	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021110	142021110	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:142021110G>A	ENST00000390381.3	+	0	399																											CAAGATATCTGATCAAAACGA	0.547000													15	23					0	0	0.003163	0	0
OR8K3	219473	broad.mit.edu	37	11	56086643	56086643	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56086643G>A	ENST00000312711.1	+	1	861	c.861G>A	c.(859-861)ttG>ttA	p.L287L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGAATCCCTTGATCTATAGTT	0.353000													11	31					0	0	0.001368	0	0
CHTF18	63922	broad.mit.edu	37	16	843212	843212	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:843212G>A	ENST00000317063.6	+	15	2310	c.2310G>A	c.(2308-2310)aaG>aaA	p.K770K	CHTF18_ENST00000262315.9_Silent_p.K580K|CHTF18_ENST00000455171.2_Silent_p.K608K			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	580					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TGGGCCTCAAGGACCAGCGCA	0.687000													8	7					0	0	0.004482	0	0
THBS4	7060	broad.mit.edu	37	5	79357628	79357628	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:79357628G>A	ENST00000350881.2	+	8	1288	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.G275G	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	366	EGF-like 2; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGGGTGTTGGGATCAGTTTTG	0.507000													18	26					0	0	0.004990	0	0
LUM	4060	broad.mit.edu	37	12	91502721	91502721	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:91502721C>T	ENST00000266718.4	-	2	490	c.36G>A	c.(34-36)ttG>ttA	p.L12L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	12					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TACCACCAATCAATGCCAGGA	0.343000													10	22					0	0	0.008291	0	0
RAB22A	57403	broad.mit.edu	37	20	56928332	56928332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:56928332C>T	ENST00000244040.3	+	4	483	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	68					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			TCTGCAGTTTCGTGCCTTAGC	0.343000													38	48					0	0	0.008740	0	0
NLRP8	126205	broad.mit.edu	37	19	56463966	56463966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56463966G>A	ENST00000291971.3	+	2	501	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E144K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	144						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAATCTGGAGGAAGGAGAATC	0.483000													27	72					0	0	0.002096	0	0
IFLTD1	160492	broad.mit.edu	37	12	25699394	25699394	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:25699394C>T	ENST00000539744.1	-	4	530	c.51G>A	c.(49-51)aaG>aaA	p.K17K	IFLTD1_ENST00000445693.1_Silent_p.K51K|IFLTD1_ENST00000458174.2_Silent_p.K135K|IFLTD1_ENST00000282881.6_Silent_p.K114K|IFLTD1_ENST00000413632.2_Silent_p.K135K	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	114						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CTGTAAGTTTCTTTGAATCAC	0.368000													22	37					0	0	0.002299	0	0
THBS1	7057	broad.mit.edu	37	15	39877740	39877740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:39877740G>A	ENST00000260356.5	+	7	1261	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	366	VWFC.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGTTCCTGATGGAGAATGCTG	0.502000													30	35					0	0	0.004289	0	0
IL4R	3566	broad.mit.edu	37	16	27375055	27375055	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:27375055C>T	ENST00000395762.2	+	11	2641	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	IL4R_ENST00000170630.2_Silent_p.S794S|IL4R_ENST00000380922.3_Silent_p.S779S|IL4R_ENST00000543915.2_Silent_p.S794S	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	794	Poly-Ser.				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						CCTCATCATCCTTCCATCCTG	0.587000													18	70					0	0	0.006122	0	0
DCC	1630	broad.mit.edu	37	18	50450136	50450136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:50450136G>A	ENST00000442544.2	+	4	1373	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	DCC_ENST00000412726.1_Missense_Mutation_p.E101K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	253	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.E253*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTAGCCATTGAAGGAAAAGA	0.423000													29	25					0	0	0.007291	0	0
PPP1CB	5500	broad.mit.edu	37	2	29001786	29001786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:29001786C>T	ENST00000395366.2	+	3	568	c.296C>T	c.(295-297)tCt>tTt	p.S99F	PPP1CB_ENST00000296122.6_Missense_Mutation_p.S99F|PPP1CB_ENST00000358506.2_Missense_Mutation_p.S99F	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	99					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGAAAGCAGTCTTTGGAAACC	0.368000													31	29					0	0	0.001786	0	0
SRRM2	23524	broad.mit.edu	37	16	2814308	2814308	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2814308T>C	ENST00000301740.8	+	11	4328	c.3779T>C	c.(3778-3780)cTt>cCt	p.L1260P		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1260	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTTCAGAACTTAAAGAAATG	0.443000													40	138					0	0	0.006230	0	0
STAB2	55576	broad.mit.edu	37	12	104046444	104046444	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:104046444C>T	ENST00000388887.2	+	12	1572	c.1368C>T	c.(1366-1368)acC>acT	p.T456T		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	456	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTTCTACACCTTGACTGGAA	0.398000													13	35					0	0	0.004007	0	0
SYT3	84258	broad.mit.edu	37	19	51129204	51129204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:51129204G>A	ENST00000338916.4	-	5	1985	c.1352C>T	c.(1351-1353)aCc>aTc	p.T451I	SYT3_ENST00000600079.1_Missense_Mutation_p.T451I|SYT3_ENST00000593901.1_Missense_Mutation_p.T451I|SYT3_ENST00000544769.1_Missense_Mutation_p.T451I	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	451	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTTGATGATGGTCACGGTGAG	0.592000													7	36					0	0	0.003080	0	0
SLC13A3	64849	broad.mit.edu	37	20	45221074	45221074	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:45221074T>G	ENST00000279027.4	-	6	907	c.889A>C	c.(889-891)Atc>Ctc	p.I297L	SLC13A3_ENST00000396360.1_Missense_Mutation_p.I250L|SLC13A3_ENST00000372121.1_Missense_Mutation_p.I247L|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Missense_Mutation_p.I250L|SLC13A3_ENST00000495082.1_Missense_Mutation_p.I250L|SLC13A3_ENST00000290317.5_Missense_Mutation_p.I250L|SLC13A3_ENST00000413164.2_Missense_Mutation_p.I247L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	297						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGGAAGGAGATCCAGAGCCAG	0.507000													22	29					0	0	0.002780	0	0
OR51I2	390064	broad.mit.edu	37	11	5474973	5474973	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5474973C>T	ENST00000341449.2	+	1	336	c.255C>T	c.(253-255)ttC>ttT	p.F85F	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCGAACCTTCTGCCTCAATG	0.488000													29	121					0	0	0.002836	0	0
BPIFA1	51297	broad.mit.edu	37	20	31828038	31828038	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:31828038G>A	ENST00000354297.4	+	5	499		c.e5-1		BPIFA1_ENST00000375422.2_Splice_Site|BPIFA1_ENST00000375413.4_Splice_Site	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1						innate immune response	extracellular region	lipid binding	p.?(1)									CTCCTTTGCAGGCCCCTGGTC	0.527000													84	156					0	0	0.003610	0	0
IMPG1	3617	broad.mit.edu	37	6	76660288	76660288	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:76660288G>A	ENST00000369950.3	-	13	2004	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	605	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAGCTGTGTGAATTGTTGCT	0.433000													11	26					0	0	0.001368	0	0
BRCA2	675	broad.mit.edu	37	13	32930715	32930715	+	Missense_Mutation	SNP	G	G	A	rs120074200		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:32930715G>A	ENST00000544455.1	+	15	7813	c.7586G>A	c.(7585-7587)gGc>gAc	p.G2529D	BRCA2_ENST00000380152.3_Missense_Mutation_p.G2529D	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2529	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GCAGTAGGAGGCCAAGTTCCC	0.418000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			34	69					0	0	0.002836	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204236603	204236603	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:204236603C>T	ENST00000272203.3	-	5	596	c.280_splice	c.e5+1	p.D94_splice	PLEKHA6_ENST00000414478.1_Splice_Site_p.D94_splice	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	94	PH.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCAAGCTCACCTTTATAGTAG	0.577000													21	40					0	0	0.001882	0	0
HHIP	64399	broad.mit.edu	37	4	145567837	145567837	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:145567837A>C	ENST00000296575.3	+	1	665	c.10A>C	c.(10-12)Atg>Ctg	p.M4L	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.M4L	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	4						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GATGCTGAAGATGCTCTCCTT	0.627000											OREG0016346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	69					0	0	0.002522	0	0
GALNTL5	168391	broad.mit.edu	37	7	151668142	151668142	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:151668142G>A	ENST00000392800.2	+	3	614	c.360G>A	c.(358-360)agG>agA	p.R120R	GALNTL5_ENST00000431418.2_Silent_p.R120R	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	120						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CAGATACCAGGAGTAAAATGT	0.328000													7	34					0	0	0.001984	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781825	128781825	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:128781825C>T	ENST00000529694.1	+	2	1033	c.657C>T	c.(655-657)ttC>ttT	p.F219F	KCNJ5_ENST00000338350.4_Silent_p.F219F|KCNJ5_ENST00000533599.1_Silent_p.F219F	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	219					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GCCTCATGTTCCGGGTGGGCG	0.587000													23	24					0	0	0.002780	0	0
EFCAB6	64800	broad.mit.edu	37	22	44068170	44068170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:44068170G>A	ENST00000262726.7	-	14	1688	c.1435C>T	c.(1435-1437)Ccc>Tcc	p.P479S	EFCAB6_ENST00000396231.2_Missense_Mutation_p.P327S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTGTACAGGGAGATGTCTTT	0.428000													16	28					0	0	0.006122	0	0
ATXN2L	11273	broad.mit.edu	37	16	28844625	28844625	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:28844625C>T	ENST00000336783.4	+	14	2072	c.1905C>T	c.(1903-1905)ccC>ccT	p.P635P	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000564304.1_Silent_p.P641P|ATXN2L_ENST00000570200.1_Silent_p.P635P|ATXN2L_ENST00000395547.2_Silent_p.P635P|ATXN2L_ENST00000382686.4_Silent_p.P635P|ATXN2L_ENST00000340394.8_Silent_p.P635P|ATXN2L_ENST00000325215.6_Silent_p.P635P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	635						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTGGCAGCCCCCCGGTGGGCC	0.632000													13	38					0	0	0.001855	0	0
KDM6B	23135	broad.mit.edu	37	17	7750924	7750924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:7750924C>T	ENST00000254846.5	+	11	1707	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	KDM6B_ENST00000448097.2_Missense_Mutation_p.P440S	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	440	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCGCCTGGGGCCCTCGGCACA	0.662000													7	13					0	0	0.003080	0	0
ITK	3702	broad.mit.edu	37	5	156608032	156608032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:156608032C>T	ENST00000422843.3	+	1	196	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	15	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCAAGAAATCCCAACAAAAG	0.448000			T	SYK	peripheral T-cell lymphoma								53	225					0	0	0.003610	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249015	140249015	+	Silent	SNP	C	C	T	rs73793507		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140249015C>T	ENST00000398640.2	+	1	327	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGACAGGC	0.547000													40	176					0	0	0.007835	0	0
GAK	2580	broad.mit.edu	37	4	843549	843549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:843549G>A	ENST00000314167.4	-	28	3958	c.3848C>T	c.(3847-3849)cCg>cTg	p.P1283L	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.P1204L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1283	J.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGCTCGTACGGCTGCCCCGC	0.672000													6	25					0	0	0.001984	0	0
VPS13A	23230	broad.mit.edu	37	9	79959077	79959077	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:79959077C>T	ENST00000360280.3	+	51	7295	c.7035C>T	c.(7033-7035)ccC>ccT	p.P2345P	VPS13A_ENST00000376634.4_Silent_p.P2345P|VPS13A_ENST00000376636.3_Silent_p.P2306P|VPS13A_ENST00000357409.5_Silent_p.P2345P	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2345					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGTGTATCCCCTTTTGGCCTG	0.284000													19	23					0	0	0.006122	0	0
SCNN1G	6340	broad.mit.edu	37	16	23223406	23223406	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:23223406G>T	ENST00000300061.2	+	8	1371	c.1228G>T	c.(1228-1230)Gcc>Tcc	p.A410S	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	410					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATGTGGGTGTGCCCAGTACAG	0.542000													32	42					5.90632e-09	6.55301e-09	0.002445	1	0
AKR1D1	6718	broad.mit.edu	37	7	137791374	137791374	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:137791374C>T	ENST00000242375.3	+	6	642	c.600C>T	c.(598-600)ttC>ttT	p.F200F	AKR1D1_ENST00000432161.1_Silent_p.F200F|AKR1D1_ENST00000411726.2_Silent_p.F159F|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	200					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ATCCGTATTTCACCCAGCCAA	0.403000													16	46					0	0	0.007413	0	0
ITGA11	22801	broad.mit.edu	37	15	68657105	68657105	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:68657105C>T	ENST00000423218.2	-	4	392	c.297G>A	c.(295-297)cgG>cgA	p.R99R	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Silent_p.R99R			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	99					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGTTGTCTTTCCGCTCGGACA	0.637000													31	45					0	0	0.003755	0	0
DSG3	1830	broad.mit.edu	37	18	29054340	29054340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29054340G>A	ENST00000257189.4	+	15	2441	c.2358G>A	c.(2356-2358)atG>atA	p.M786I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	786					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGATAAGCATGAATTTTCTGG	0.398000													19	65					0	0	0.001882	0	0
OR4D11	219986	broad.mit.edu	37	11	59271968	59271968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:59271968C>T	ENST00000313253.1	+	1	920	c.920C>T	c.(919-921)cCt>cTt	p.P307L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P307L(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGACTCGTGCCTTCTGAAAGG	0.522000													11	21					0	0	0.000978	0	0
GPR174	84636	broad.mit.edu	37	X	78426748	78426748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:78426748C>T	ENST00000276077.1	+	1	280	c.244C>T	c.(244-246)Cat>Tat	p.H82Y		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	82						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTACTTGAATCATGACTGGCC	0.418000										HNSCC(63;0.18)			16	8					0	0	0.003163	0	0
IKBKB	3551	broad.mit.edu	37	8	42174335	42174335	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:42174335C>T	ENST00000520810.1	+	11	1224	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	IKBKB_ENST00000416505.2_Silent_p.I287I|IKBKB_ENST00000379708.3_Silent_p.I123I|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.I344I	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	346					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ACACGGGCATCCCAGAGGAGG	0.577000													17	30					0	0	0.004007	0	0
ABCC12	94160	broad.mit.edu	37	16	48130803	48130803	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:48130803A>G	ENST00000311303.3	-	22	3394	c.3049T>C	c.(3049-3051)Tac>Cac	p.Y1017H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1017	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CAGTTAAAGTAGAGGAGGTGA	0.458000													29	34					0	0	0.007291	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999228	104999228	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:104999228A>T	ENST00000372582.1	+	10	2006	c.1250A>T	c.(1249-1251)gAc>gTc	p.D417V	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D417V|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.D22V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	417	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATACTTTAGACTGTGACAAT	0.383000													50	23					0	0	0.003610	0	0
GPR149	344758	broad.mit.edu	37	3	154147351	154147351	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:154147351C>T	ENST00000389740.2	-	1	153	c.54G>A	c.(52-54)gaG>gaA	p.E18E		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	18						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AATTATGATTCTCTTTCCACA	0.373000													19	62					0	0	0.001523	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73302721	73302721	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:73302721G>A	ENST00000258098.6	-	5	2130	c.1890C>T	c.(1888-1890)atC>atT	p.I630I	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	630	FIP-RBD.				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCAGCCGGTCGATGTAGCTCT	0.652000													20	29					0	0	0.001523	0	0
ERC2	26059	broad.mit.edu	37	3	55922538	55922538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:55922538C>T	ENST00000288221.6	-	14	2698	c.2443G>A	c.(2443-2445)Gaa>Aaa	p.E815K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	815						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCATCCAGTTCCTGTCTGGTC	0.512000													79	144					0	0	0.003610	0	0
GABRP	2568	broad.mit.edu	37	5	170222365	170222365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:170222365G>A	ENST00000518525.1	+	6	858	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	GABRP_ENST00000519598.1_Missense_Mutation_p.E132K|GABRP_ENST00000519385.1_Missense_Mutation_p.E132K|GABRP_ENST00000265294.4_Missense_Mutation_p.E132K			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	132						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTCCTCCATGAAGTCACTGT	0.562000													37	57					0	0	0.006230	0	0
TNNI3K	51086	broad.mit.edu	37	1	74905279	74905279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:74905279G>A	ENST00000370891.2	+	22	2303	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E763K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E763K	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCACTGGCGAAATTCCATT	0.438000													31	42					0	0	0.001786	0	0
SF3B2	10992	broad.mit.edu	37	11	65819988	65819988	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:65819988G>A	ENST00000528302.1	+	1	187	c.133_splice	c.e1+1	p.G45_splice	SF3B2_ENST00000322535.6_Splice_Site_p.G45_splice			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	45	SAP.				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCCGATCCAGGGTGAGGAACA	0.677000													21	22					0	0	0.008871	0	0
MYO15A	51168	broad.mit.edu	37	17	18059562	18059562	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:18059562A>G	ENST00000205890.5	+	48	8851	c.8513A>G	c.(8512-8514)aAc>aGc	p.N2838S	MYO15A_ENST00000585180.1_Silent_p.Q100Q|MYO15A_ENST00000418233.3_Missense_Mutation_p.N102S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2838	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGGAGTTCAACCTGGCCAGT	0.562000													27	15					0	0	0.001786	0	0
FOXR2	139628	broad.mit.edu	37	X	55650332	55650332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:55650332G>A	ENST00000339140.3	+	1	500	c.188G>A	c.(187-189)aGg>aAg	p.R63K		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	63					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTCAGAAGAGGAGACCCAGT	0.537000													18	20					0	0	0.001523	0	0
CIITA	4261	broad.mit.edu	37	16	10995407	10995407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:10995407G>A	ENST00000324288.8	+	6	606	c.473G>A	c.(472-474)tGg>tAg	p.W158*	CIITA_ENST00000381835.5_Nonsense_Mutation_p.W158*|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	158					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTGAAGCACTGGAAGCCAGGT	0.607000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								10	17					0	0	0.000978	0	0
PTPRT	11122	broad.mit.edu	37	20	40747109	40747109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:40747109C>T	ENST00000373198.3	-	22	3217	c.2982G>A	c.(2980-2982)tgG>tgA	p.W994*	PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W981*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W962*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W971*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W962*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W975*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W972*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	972	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGATCATTCTCCAAAAGTCCT	0.542000													18	74					0	0	0.001523	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597569	136597569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:136597569C>T	ENST00000531224.1	-	5	1346	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	BCLAF1_ENST00000527759.1_Missense_Mutation_p.G363E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G363E|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G365E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G363E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	365					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)		TTTCTCTGATCCTTTCTCTTT	0.413000													16	245					0	0	0.006122	0	0
C12orf50	160419	broad.mit.edu	37	12	88391931	88391931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:88391931G>A	ENST00000298699.2	-	4	350	c.170C>T	c.(169-171)cCa>cTa	p.P57L	C12orf50_ENST00000550553.1_Missense_Mutation_p.P57L	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	57										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGACTGGAGTGGAATTCCTTC	0.368000													8	14					0	0	0.008291	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770483	31770483	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:31770483C>A	ENST00000240587.4	-	2	543	c.216G>T	c.(214-216)atG>atT	p.M72I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	72					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACTCGCTGTCCATTTCATGGC	0.597000													13	19					2.32078e-09	2.57873e-09	0.003163	1	0
TTN	7273	broad.mit.edu	37	2	179606297	179606297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179606297C>T	ENST00000589042.1	-	48	11887	c.11663G>A	c.(11662-11664)gGa>gAa	p.G3888E	TTN_ENST00000359218.5_Missense_Mutation_p.G3650E|TTN_ENST00000342175.6_Missense_Mutation_p.G3717E|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G3571E|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.G3525E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3571							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)			TGTATACTCTCCCTCATCCTC	0.383000													40	45					0	0	0.005524	0	0
PROX2	283571	broad.mit.edu	37	14	75330247	75330247	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:75330247C>T	ENST00000556084.2	-	1	290	c.291G>A	c.(289-291)aaG>aaA	p.K97K	PROX2_ENST00000445876.1_Silent_p.K97K|PROX2_ENST00000556489.2_Silent_p.K97K	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	97					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CTCGGGCCTTCTTTGGGCAGC	0.642000													8	17					0	0	0.003080	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166839	96166839	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:96166839G>A	ENST00000315367.3	+	2	808	c.567G>A	c.(565-567)aaG>aaA	p.K189K	PLEKHF2_ENST00000519516.1_Silent_p.K189K	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	189						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GCTCTGAAAAGAGATTTCTTC	0.498000													325	488					0	0	0.003610	0	0
GJA10	84694	broad.mit.edu	37	6	90605545	90605545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:90605545G>A	ENST00000369352.1	+	1	1358	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	453					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTGGTTCTCGGAATAGCTCC	0.522000													47	84					0	0	0.003610	0	0
ZMYND8	23613	broad.mit.edu	37	20	45905204	45905204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:45905204G>A	ENST00000311275.7	-	11	1527	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	ZMYND8_ENST00000471951.2_Missense_Mutation_p.S445F|ZMYND8_ENST00000461685.1_Missense_Mutation_p.S445F|ZMYND8_ENST00000352431.2_Missense_Mutation_p.S445F|ZMYND8_ENST00000355972.4_Missense_Mutation_p.S425F|ZMYND8_ENST00000360911.3_Missense_Mutation_p.S420F|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000458360.2_Missense_Mutation_p.S420F|ZMYND8_ENST00000262975.4_Missense_Mutation_p.S425F|ZMYND8_ENST00000536340.1_Missense_Mutation_p.S452F|ZMYND8_ENST00000446994.2_Missense_Mutation_p.S362F|ZMYND8_ENST00000540497.1_Missense_Mutation_p.S420F|ZMYND8_ENST00000396281.4_Missense_Mutation_p.S425F|ZMYND8_ENST00000372023.3_Missense_Mutation_p.S420F			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	425							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATCCGACAAGGAAATCCGGCG	0.592000													13	70					0	0	0.003163	0	0
OR51I1	390063	broad.mit.edu	37	11	5462353	5462353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5462353G>A	ENST00000380211.1	-	1	391	c.392C>T	c.(391-393)cCa>cTa	p.P131L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGCGTAATGGATAACAAAT	0.483000													27	50					0	0	0.005443	0	0
CEP250	11190	broad.mit.edu	37	20	34050232	34050232	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:34050232C>T	ENST00000397527.1	+	4	760	c.40C>T	c.(40-42)Cag>Tag	p.Q14*	CEP250_ENST00000397524.1_Nonsense_Mutation_p.Q14*|CEP250_ENST00000342580.4_Nonsense_Mutation_p.Q14*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	14					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CATGAAGCCCCAGTCACTGCA	0.592000													3	9					0	0	0.000248	0	0
COL4A4	1286	broad.mit.edu	37	2	227886775	227886775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:227886775G>A	ENST00000396625.3	-	44	4412	c.4205C>T	c.(4204-4206)cCc>cTc	p.P1402L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1399L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1402	Triple-helical region.		P -> S.		axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTCCTGAGGGGCCTCTCAT	0.488000													69	97					0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94344033	94344033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:94344033G>A	ENST00000282020.4	+	10	1717	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	GRID2_ENST00000510992.1_Missense_Mutation_p.E392K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	487					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.E487Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTTAACTACGAAATTTACGT	0.418000													26	35					0	0	0.003330	0	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32847262	32847262	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32847262G>A	ENST00000420261.1	-	0	363																											TCTTGTTCCTGAACCTGATAC	0.443000													7	16					0	0	0.001984	0	0
C10orf54	64115	broad.mit.edu	37	10	73533131	73533131	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:73533131G>C	ENST00000394957.3	-	1	124	c.66C>G	c.(64-66)ttC>ttG	p.F22L	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	22						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ACGCAGCCAGGAAGAGAGCGA	0.677000													4	6					0	0	0.000602	0	0
CATSPER3	347732	broad.mit.edu	37	5	134347235	134347235	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:134347235C>T	ENST00000282611.6	+	8	1205	c.1119C>T	c.(1117-1119)atC>atT	p.I373I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	373					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTATGAGATCGTGCATGTGC	0.557000													7	17					0	0	0.001984	0	0
LPHN2	23266	broad.mit.edu	37	1	82456395	82456395	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:82456395C>T	ENST00000370728.1	+	25	4591	c.3946C>T	c.(3946-3948)Ctg>Ttg	p.L1316L	LPHN2_ENST00000370725.1_Silent_p.L1331L|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Silent_p.L1318L|LPHN2_ENST00000319517.6_Silent_p.L1260L|LPHN2_ENST00000370723.1_Silent_p.L1318L|LPHN2_ENST00000370730.1_Silent_p.L1273L|LPHN2_ENST00000335786.5_Silent_p.L1273L|LPHN2_ENST00000359929.3_Silent_p.L1260L|LPHN2_ENST00000370721.1_Silent_p.L1241L|LPHN2_ENST00000370727.1_Silent_p.L1288L|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000271029.4_Silent_p.L1288L|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370717.2_Silent_p.L1331L			O95490	LPHN2_HUMAN	latrophilin 2	1316					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAACCCAGGGCTGGAGCTCCA	0.512000													29	88					0	0	0.003271	0	0
WASF3	10810	broad.mit.edu	37	13	27255355	27255355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:27255355G>A	ENST00000361042.4	+	8	1097	c.872G>A	c.(871-873)aGg>aAg	p.R291K	WASF3_ENST00000335327.5_Missense_Mutation_p.R294K			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	294					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCCTCGGCGAGGCACATGGCC	0.692000													31	49					0	0	0.003271	0	0
C9orf173	441476	broad.mit.edu	37	9	140146525	140146525	+	Missense_Mutation	SNP	C	C	T	rs143046453	by1000genomes	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:140146525C>T	ENST00000388931.3	+	3	367	c.341C>T	c.(340-342)cCg>cTg	p.P114L	C9orf173_ENST00000412566.1_Missense_Mutation_p.P114L	NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1	NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1	Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	114										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GTGCCGAGCCCGTCCGTACGA	0.672000													6	7					0	0	0.001984	0	0
INHBA	3624	broad.mit.edu	37	7	41739583	41739583	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:41739583A>G	ENST00000242208.4	-	2	635		c.e2+1		INHBA-AS1_ENST00000415848.2_RNA|INHBA_ENST00000442711.1_Splice_Site|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A						cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCAGCACCAACCTGACTCGG	0.522000										TSP Lung(11;0.080)			54	93					0	0	0.003610	0	0
MYT1L	23040	broad.mit.edu	37	2	1891327	1891327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:1891327C>T	ENST00000399161.2	-	17	3322	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E857K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	859					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATGGTCACCTCCCCGGGATAC	0.498000													21	88					0	0	0.001523	0	0
CASP2	835	broad.mit.edu	37	7	142991774	142991774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:142991774C>T	ENST00000310447.5	+	6	896	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	219					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					ACTGGAATTTCGCTCTGGAGG	0.527000													47	62					0	0	0.003610	0	0
LILRB1	10859	broad.mit.edu	37	19	55147037	55147037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55147037G>A	ENST00000396331.1	+	14	1984	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.D543N|LILRB1_ENST00000427581.2_Missense_Mutation_p.D593N|LILRB1_ENST00000418536.2_Missense_Mutation_p.D527N|LILRB1_ENST00000396327.3_Missense_Mutation_p.D544N|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.D543N|LILRB1_ENST00000324602.7_Missense_Mutation_p.D544N|LILRB1_ENST00000434867.2_Missense_Mutation_p.D543N|LILRB1_ENST00000396317.1_Missense_Mutation_p.D527N|LILRB1_ENST00000396315.1_Missense_Mutation_p.D544N	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	543					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACAGCCTGAGGATGGGGTGGA	0.612000										HNSCC(37;0.09)			59	77					0	0	0.003610	0	0
PLCH1	23007	broad.mit.edu	37	3	155200219	155200219	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:155200219T>C	ENST00000460012.1	-	23	3863	c.3506A>G	c.(3505-3507)aAc>aGc	p.N1169S	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.N1169S|PLCH1_ENST00000340059.7_Missense_Mutation_p.N1207S|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.N1169S			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1207					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCCTGATTGTTGGTCTCATC	0.453000													29	36					0	0	0.002836	0	0
LTF	4057	broad.mit.edu	37	3	46497331	46497331	+	Missense_Mutation	SNP	G	G	A	rs146006710		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:46497331G>A	ENST00000231751.4	-	4	749	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	LTF_ENST00000426532.2_Missense_Mutation_p.R108C|LTF_ENST00000417439.1_Missense_Mutation_p.R152C	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	152	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AAGAATGGACGAAGTGTCCCT	0.572000													25	22					0	0	0.002780	0	0
CCDC60	160777	broad.mit.edu	37	12	119968818	119968818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:119968818G>A	ENST00000327554.2	+	13	1966	c.1501G>A	c.(1501-1503)Gat>Aat	p.D501N	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	501										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGTGCTGCAGGATCTGAGGAT	0.527000													41	59					0	0	0.003214	0	0
KMO	8564	broad.mit.edu	37	1	241714312	241714312	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:241714312A>C	ENST00000366559.4	+	4	591	c.280A>C	c.(280-282)Aag>Cag	p.K94Q	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.K94Q|KMO_ENST00000366557.4_Missense_Mutation_p.K94Q	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	94					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TTCAGGAAAAAAGTCTGCAAT	0.403000													78	116					0	0	0.003610	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635679	141635679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141635679C>T	ENST00000546910.1	-	5	476	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	CLEC5A_ENST00000438351.1_Missense_Mutation_p.E71K|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.E71K|CLEC5A_ENST00000470595.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	94	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCCCTGCTTTCATTCCAAGAT	0.428000													33	62					0	0	0.002836	0	0
USB1	79650	broad.mit.edu	37	16	58036463	58036463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:58036463C>T	ENST00000219281.3	+	2	290	c.179C>T	c.(178-180)cCt>cTt	p.P60L	USB1_ENST00000423271.3_Missense_Mutation_p.P60L|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000539737.2_Missense_Mutation_p.P60L|USB1_ENST00000561743.1_Missense_Mutation_p.P9L|USB1_ENST00000563149.1_Missense_Mutation_p.P60L	NM_024598.3	NP_078874.2			U6 snRNA biogenesis 1																		GAGGAGGGGCCTGAAGATGAC	0.572000													23	67					0	0	0.002299	0	0
LILRB4	11006	broad.mit.edu	37	19	55176615	55176615	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55176615G>A	ENST00000391736.1	+	8	1056	c.741G>A	c.(739-741)ggG>ggA	p.G247G	LILRB4_ENST00000270452.2_Silent_p.G247G|LILRB4_ENST00000391733.3_Silent_p.G247G|LILRB4_ENST00000430952.2_Silent_p.G247G|LILRB4_ENST00000391734.3_Silent_p.G247G	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	247						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGCCTACAGGGTCAGTCCCCC	0.647000													12	24					0	0	0.002450	0	0
CDH26	60437	broad.mit.edu	37	20	58563960	58563960	+	Splice_Site	SNP	C	C	T	rs36098341		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:58563960C>T	ENST00000348616.4	+	9	1325	c.1023_splice	c.e9-1	p.P342_splice	CDH26_ENST00000244047.5_Splice_Site_p.P342_splice	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	342	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGGTTCCAGCCTTTGGATTAT	0.547000													18	34					0	0	0.006122	0	0
LAMA3	3909	broad.mit.edu	37	18	21357521	21357521	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:21357521G>A	ENST00000313654.9	+	11	1647	c.1405_splice	c.e11-1	p.R469_splice	LAMA3_ENST00000399516.3_Splice_Site_p.R469_splice	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	469	Domain V.|Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTTTTACAGGAATTCCCATT	0.343000													4	51					0	0	0.000602	0	0
DNAH1	25981	broad.mit.edu	37	3	52407021	52407021	+	Silent	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:52407021T>C	ENST00000420323.2	+	44	7198	c.6937T>C	c.(6937-6939)Ttg>Ctg	p.L2313L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2313	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCGAGCTGTTGCGCCAGTG	0.612000													22	23					0	0	0.002299	0	0
PANK3	79646	broad.mit.edu	37	5	167990990	167990990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:167990990G>A	ENST00000239231.6	-	4	1032	c.716C>T	c.(715-717)tCc>tTc	p.S239F	PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	239					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		ATCACCTTTGGATGCCATTTC	0.423000													40	156					0	0	0.002222	0	0
CDH12	1010	broad.mit.edu	37	5	21854885	21854885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:21854885G>A	ENST00000382254.1	-	7	1627	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q181*|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	181	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GCCTTGACCTGGAGTACATAT	0.418000										HNSCC(59;0.17)			19	28					0	0	0.007413	0	0
NOMO1	23420	broad.mit.edu	37	16	14970343	14970343	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:14970343C>T	ENST00000287667.7	+	21	2655	c.2484C>T	c.(2482-2484)atC>atT	p.I828I		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	828						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CACCGCTGATCACAGTCTTTA	0.542000													52	53					0	0	0.003610	0	0
HMCN1	83872	broad.mit.edu	37	1	185964216	185964216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:185964216C>T	ENST00000271588.4	+	24	4004	c.3775C>T	c.(3775-3777)Caa>Taa	p.Q1259*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q1259*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1259					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTACATGTCCAAGGTGATTC	0.408000													20	42					0	0	0.001882	0	0
OR4N5	390437	broad.mit.edu	37	14	20612138	20612138	+	Silent	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:20612138T>C	ENST00000333629.1	+	1	244	c.244T>C	c.(244-246)Ttg>Ctg	p.L82L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCCCAGGATGTTGGTGGACTT	0.488000													68	133					0	0	0.003610	0	0
COL4A2	1284	broad.mit.edu	37	13	111147733	111147733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:111147733G>A	ENST00000360467.5	+	40	3985	c.3679G>A	c.(3679-3681)Gaa>Aaa	p.E1227K		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1227	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCTCCTGGGGAAAGAGGTGA	0.567000													31	84					0	0	0.008361	0	0
FAM83B	222584	broad.mit.edu	37	6	54805506	54805506	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:54805506G>A	ENST00000306858.7	+	5	1853	c.1737G>A	c.(1735-1737)gaG>gaA	p.E579E		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	579										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CACCTAAAGAGGTCCCAGACA	0.453000													21	38					0	0	0.002299	0	0
CALD1	800	broad.mit.edu	37	7	134632263	134632263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:134632263C>T	ENST00000361388.2	+	8	1316	c.850C>T	c.(850-852)Cct>Tct	p.P284S	CALD1_ENST00000543443.1_Missense_Mutation_p.P263S|CALD1_ENST00000361675.2_Missense_Mutation_p.P513S|CALD1_ENST00000393118.2_Missense_Mutation_p.P278S|CALD1_ENST00000417172.1_Missense_Mutation_p.P258S|CALD1_ENST00000361901.2_Missense_Mutation_p.P258S|CALD1_ENST00000424922.1_Missense_Mutation_p.P252S|CALD1_ENST00000422748.1_Missense_Mutation_p.P284S|CALD1_ENST00000495522.1_Missense_Mutation_p.P278S	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	513					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CCACAGCCGCCCTGGAGGGAG	0.657000													5	5					0	0	0.001168	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973843	29973843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:29973843C>T	ENST00000378993.1	+	11	2670	c.1997C>T	c.(1996-1998)tCg>tTg	p.S666L	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.S666L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	666					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CAGACAAAATCGAGCAGGGAG	0.532000													14	3					0	0	0.002450	0	0
DDX26B	203522	broad.mit.edu	37	X	134711293	134711293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:134711293C>T	ENST00000370752.4	+	14	2283	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	DDX26B_ENST00000493637.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	650										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGACCACCCTCAGCCTCG	0.483000													50	11					0	0	0.003610	0	0
DUSP22	56940	broad.mit.edu	37	6	345884	345884	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:345884C>T	ENST00000419235.2	+	5	297	c.219C>T	c.(217-219)ttC>ttT	p.F73F	DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.F73F|DUSP22_ENST00000605863.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	73	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GTATTAAATTCATTCACGAGT	0.418000													13	61					0	0	0.002450	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161146971	161146971	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:161146971G>A	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						GGAGCCAGTCGAACATATGCC	0.418000													37	47					0	0	0.003610	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090556	115090556	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:115090556C>T	ENST00000361283.1	+	3	1548	c.1239C>T	c.(1237-1239)ccC>ccT	p.P413P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	413	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AGGCAGTTCCCCCAGTGTCTC	0.577000													15	95					0	0	0.003163	0	0
ARMC4	55130	broad.mit.edu	37	10	28233286	28233286	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28233286G>A	ENST00000305242.5	-	12	1700	c.1608C>T	c.(1606-1608)ggC>ggT	p.G536G	ARMC4_ENST00000545014.1_Silent_p.G61G|ARMC4_ENST00000537576.1_Silent_p.G228G	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	536							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAATTGGTAAGCCCCCAAGGT	0.383000													12	40					0	0	0.001855	0	0
CPA6	57094	broad.mit.edu	37	8	68346349	68346349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:68346349G>A	ENST00000297770.4	-	9	1180	c.965C>T	c.(964-966)tCc>tTc	p.S322F	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	322					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TGCATGAAAGGAGAGATAAGC	0.413000													32	47					0	0	0.002445	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156928584	156928584	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:156928584G>A	ENST00000368194.3	-	17	2491	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	ARHGEF11_ENST00000361409.2_Silent_p.L444L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	444	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCGCTCTCGGAGAGGGTCCC	0.542000													18	35					0	0	0.004990	0	0
ZNF317	57693	broad.mit.edu	37	19	9270815	9270815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9270815C>T	ENST00000247956.6	+	7	799	c.494C>T	c.(493-495)tCc>tTc	p.S165F	ZNF317_ENST00000360385.3_Missense_Mutation_p.S133F	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GGAGAGAAGTCCACTGAATAC	0.517000													19	43					0	0	0.001882	0	0
COL4A4	1286	broad.mit.edu	37	2	227945175	227945175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:227945175C>T	ENST00000396625.3	-	24	1994	c.1787G>A	c.(1786-1788)gGg>gAg	p.G596E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G596E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	596	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTGGATCCCCTTTTTCTCC	0.463000													54	76					0	0	0.003610	0	0
CACNA1F	778	broad.mit.edu	37	X	49070637	49070637	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:49070637G>A	ENST00000376265.2	-	30	3784	c.3723C>T	c.(3721-3723)atC>atT	p.I1241I	CACNA1F_ENST00000376251.1_Silent_p.I1176I|CACNA1F_ENST00000323022.5_Silent_p.I1230I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1241					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGAAGGCGATGATTTTGAGCA	0.542000													34	11					0	0	0.003755	0	0
CDKL1	8814	broad.mit.edu	37	14	50862430	50862430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:50862430G>A	ENST00000216378.2	-	2	804	c.160C>T	c.(160-162)Cga>Tga	p.R54*	CDKL1_ENST00000395834.1_Nonsense_Mutation_p.R54*|CDKL1_ENST00000356146.1_5'UTR			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	53	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					TTGAGCATTCGGATTTCCCGA	0.438000													40	55					0	0	0.008740	0	0
FCRL1	115350	broad.mit.edu	37	1	157766900	157766900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:157766900C>T	ENST00000358292.3	-	9	1133	c.1082G>A	c.(1081-1083)tGg>tAg	p.W361*	FCRL1_ENST00000491942.1_Missense_Mutation_p.M402I|FCRL1_ENST00000368176.3_Missense_Mutation_p.M403I|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	0						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTTGTCCTCCATATGTGTCC	0.393000													15	50					0	0	0.007413	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805983	20805983	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:20805983C>T	ENST00000577537.1	+	0	1167				RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA																							TAGAACATCCCGAACCCGTGA	0.617000													6	3					0	0	0.001168	0	0
TFEC	22797	broad.mit.edu	37	7	115580967	115580967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:115580967G>A	ENST00000265440.7	-	8	862	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	TFEC_ENST00000320239.7_Missense_Mutation_p.R199C|TFEC_ENST00000457268.1_Missense_Mutation_p.R161C|TFEC_ENST00000393485.1_3'UTR	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	228						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CCATGAGTACGAGCCTGAATT	0.398000													26	67					0	0	0.006320	0	0
SCN5A	6331	broad.mit.edu	37	3	38618268	38618268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:38618268G>A	ENST00000413689.1	-	19	3588	c.3395C>T	c.(3394-3396)cCa>cTa	p.P1132L	SCN5A_ENST00000333535.4_Missense_Mutation_p.P1132L|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1132L|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1131L|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1078L|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1078L|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1078L|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1131L|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1132L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P1131L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1132					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACTGTCCTCTGGGGTCTATGG	0.617000													8	12					0	0	0.000978	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513858	1513858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:1513858G>A	ENST00000421627.2	+	3	1134	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	413					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGTACCTCAGGATGAGTGGGG	0.512000													10	4					0	0	0.000978	0	0
CELSR3	1951	broad.mit.edu	37	3	48677320	48677320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:48677320C>T	ENST00000544264.1	-	35	9993	c.9713G>A	c.(9712-9714)gGc>gAc	p.G3238D	CELSR3_ENST00000164024.4_Missense_Mutation_p.G3233D			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3233					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGGCTGGGGCCACTGACCGA	0.612000													45	91					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923318	9923318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:9923318C>T	ENST00000396573.2	-	10	2278	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	GRIN2A_ENST00000330684.3_Missense_Mutation_p.E657K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E657K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E657K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E500K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E657K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	657					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCACAAATTCCTCTTGGATC	0.502000													10	44					0	0	0.006214	0	0
DNAH11	8701	broad.mit.edu	37	7	21847502	21847502	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:21847502G>A	ENST00000328843.6	+	64	10219	c.10186_splice	c.e64-1	p.K3396_splice	DNAH11_ENST00000409508.3_Splice_Site_p.K3389_splice			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3396	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCAGTCAGAGAAGATTCGCT	0.443000									Kartagener syndrome				9	24					0	0	0.008291	0	0
ZFPM2	23414	broad.mit.edu	37	8	106646513	106646513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:106646513C>T	ENST00000407775.2	+	5	710	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	ZFPM2_ENST00000517361.1_Missense_Mutation_p.P22S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P22S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	154					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GACTGCTGGTCCCAAGTGGTT	0.423000													5	20					0	0	0.001168	0	0
AGAP2-AS1	100130776	broad.mit.edu	37	12	58121399	58121399	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:58121399G>A	ENST00000542466.2	+	2	760	c.624G>A	c.(622-624)ccG>ccA	p.P208P	AGAP2_ENST00000257897.3_Intron|AGAP2_ENST00000547588.1_Intron																							GCTCCCAGCCGGGCAGCACAG	0.657000													3	9					0	0	0.004672	0	0
PARD3	56288	broad.mit.edu	37	10	34649112	34649112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:34649112C>T	ENST00000374789.3	-	13	2108	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	PARD3_ENST00000374773.1_Missense_Mutation_p.D595N|PARD3_ENST00000544292.1_Missense_Mutation_p.D312N|PARD3_ENST00000545693.1_Missense_Mutation_p.D582N|PARD3_ENST00000545260.1_Missense_Mutation_p.D538N|PARD3_ENST00000374768.1_Missense_Mutation_p.D33N|PARD3_ENST00000346874.4_Missense_Mutation_p.D595N|PARD3_ENST00000374788.3_Missense_Mutation_p.D595N|PARD3_ENST00000374794.3_Missense_Mutation_p.D538N|PARD3_ENST00000350537.4_Missense_Mutation_p.D582N|PARD3_ENST00000340077.5_Missense_Mutation_p.D595N|PARD3_ENST00000374790.3_Missense_Mutation_p.D538N|PARD3_ENST00000374776.1_Missense_Mutation_p.D582N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	595	PDZ 3.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GATCCTGAATCATTAAGTGGG	0.428000													19	57					0	0	0.008871	0	0
NRXN3	9369	broad.mit.edu	37	14	79181112	79181112	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:79181112G>A	ENST00000554719.1	+	5	1046	c.555G>A	c.(553-555)gtG>gtA	p.V185V	NRXN3_ENST00000335750.5_Silent_p.V185V	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	189	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTATATCAGTGAACAGCAGGC	0.572000													29	101					0	0	0.003271	0	0
VAV3	10451	broad.mit.edu	37	1	108145775	108145775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:108145775C>T	ENST00000370056.4	-	23	2300	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T	VAV3_ENST00000415432.2_Missense_Mutation_p.A116T|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.A676T|VAV3_ENST00000544443.1_Missense_Mutation_p.A80T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	676	SH2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTTCCATTGCTCCAGCATAC	0.358000													39	47					0	0	0.008740	0	0
ATP8B1	5205	broad.mit.edu	37	18	55319961	55319961	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:55319961C>T	ENST00000536015.1	-	25	3135	c.3015_splice	c.e25-1	p.D1006_splice	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Splice_Site_p.D1006_splice	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1006					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCACTCACATCCTTAAGGAGA	0.363000													32	30					0	0	0.003755	0	0
NACAP1	83955	broad.mit.edu	37	8	102381730	102381730	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:102381730G>A	ENST00000419462.1	+	0	1142					NR_002182.1																						TCCGAGCCCTGAAGAACAGTA	0.403000													8	31					0	0	0.003080	0	0
ESPNP	284729	broad.mit.edu	37	1	17023276	17023276	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:17023276G>A	ENST00000492551.1	-	0	1671					NR_026567.1																						CCGCCTACCTGGAAGGCCGGC	0.677000													5	61					0	0	0.001168	0	0
DNAJC10	54431	broad.mit.edu	37	2	183623942	183623942	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:183623942C>T	ENST00000264065.6	+	21	2468	c.2053C>T	c.(2053-2055)Cta>Tta	p.L685L		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	685	Thioredoxin 4.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGAAAAAGTTCTACAAGGGAA	0.373000													10	29					0	0	0.006214	0	0
PDZRN4	29951	broad.mit.edu	37	12	41957359	41957359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:41957359G>A	ENST00000298919.7	+	8	983	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	PDZRN4_ENST00000402685.2_Missense_Mutation_p.E459K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E201K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	459							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GATAAATGGGGAAGATGTCCA	0.418000													23	46					0	0	0.004656	0	0
KDR	3791	broad.mit.edu	37	4	55968569	55968569	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:55968569G>A	ENST00000263923.4	-	14	2389	c.2094C>T	c.(2092-2094)atC>atT	p.I698I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	698	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TAAACCACATGATCTGTGGAG	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			37	70					0	0	0.006230	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766905	27766905	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:27766905C>T	ENST00000451261.2	+	5	2292	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GCATGCCATCCTGAAGGCCTC	0.433000													14	2					0	0	0.006122	0	0
PRSS55	203074	broad.mit.edu	37	8	10387074	10387074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:10387074G>A	ENST00000328655.3	+	2	252	c.212G>A	c.(211-213)gGg>gAg	p.G71E	PRSS55_ENST00000522210.1_Missense_Mutation_p.G71E|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	71	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATCACAGGGGGGATGGAGGCG	0.502000													107	149					0	0	0.003610	0	0
FBXL16	146330	broad.mit.edu	37	16	746788	746788	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:746788C>T	ENST00000397621.1	-	2	949	c.618G>A	c.(616-618)acG>acA	p.T206T	FBXL16_ENST00000324361.5_Silent_p.T206T	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	206										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGCCTGCGTCCGTGATGGTGG	0.632000													11	22					0	0	0.000978	0	0
ZNF592	9640	broad.mit.edu	37	15	85342003	85342003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:85342003C>T	ENST00000299927.3	+	5	2943	c.2921C>T	c.(2920-2922)gCc>gTc	p.A974V	ZNF592_ENST00000560079.2_Missense_Mutation_p.A974V			Q92610	ZN592_HUMAN	zinc finger protein 592	974					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGGTGGAAGCCAGGCCGCGG	0.647000													8	10					0	0	0.003080	0	0
CREB3L1	90993	broad.mit.edu	37	11	46341910	46341910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:46341910G>A	ENST00000529193.1	+	11	1805	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	CREB3L1_ENST00000288400.3_Missense_Mutation_p.E452K			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	452					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGATGGCTGGGAAATCAACCC	0.652000			T	FUS	myxofibrosarcoma								4	12					0	0	0.001168	0	0
PLSCR2	57047	broad.mit.edu	37	3	146167009	146167009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:146167009C>T	ENST00000497985.1	-	8	1287	c.848G>A	c.(847-849)gGt>gAt	p.G283D	PLSCR2_ENST00000336685.2_Missense_Mutation_p.G210D	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	210					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						GAAACAGGCACCAATCATCAC	0.373000													46	37					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9027222	9027222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9027222G>A	ENST00000397910.4	-	13	36867	c.36664C>T	c.(36664-36666)Ccc>Tcc	p.P12222S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12224					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						TTACTCGTGGGGCTGGGGCTG	0.478000													5	14					0	0	0.001168	0	0
PRTG	283659	broad.mit.edu	37	15	55972763	55972763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:55972763G>A	ENST00000389286.4	-	5	787	c.740C>T	c.(739-741)tCt>tTt	p.S247F	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	247	Ig-like 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTGATGAAGAGATGTTGTTAT	0.383000													51	84					0	0	0.003610	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308012	140308012	+	Missense_Mutation	SNP	C	C	T	rs137957181		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140308012C>T	ENST00000253807.2	+	1	1535	c.1535C>T	c.(1534-1536)tCc>tTc	p.S512F	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S512F|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAAAACTTCCTTTGACTTT	0.493000													29	90					0	0	0.005443	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38682858	38682858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38682858C>T	ENST00000222345.6	+	17	5013	c.4504C>T	c.(4504-4506)Cca>Tca	p.P1502S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1502					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTCCGGTCACCACGGAAGAA	0.552000													22	32					0	0	0.002299	0	0
TENM2	57451	broad.mit.edu	37	5	167674649	167674649	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:167674649G>A	ENST00000519204.1	+	26	6460	c.6342G>A	c.(6340-6342)ctG>ctA	p.L2114L	TENM2_ENST00000403607.2_Silent_p.L2059L|TENM2_ENST00000545108.1_Silent_p.L2234L|TENM2_ENST00000518659.1_Silent_p.L2235L|TENM2_ENST00000520394.1_Silent_p.L1996L					teneurin transmembrane protein 2																		TCCACTTACTGAACCCAGGCA	0.572000													13	15					0	0	0.001855	0	0
ADCY6	112	broad.mit.edu	37	12	49166193	49166193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:49166193C>T	ENST00000307885.4	-	17	3366	c.2672G>A	c.(2671-2673)aGg>aAg	p.R891K	ADCY6_ENST00000357869.3_Missense_Mutation_p.R838K|ADCY6_ENST00000550422.1_Missense_Mutation_p.R838K	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	891					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGGGCCACCCTCCCTGCAGC	0.557000													19	32					0	0	0.001882	0	0
ACPL2	92370	broad.mit.edu	37	3	141006222	141006222	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:141006222C>T	ENST00000508812.1	+	4	2312	c.405C>T	c.(403-405)ttC>ttT	p.F135F	ACPL2_ENST00000286353.4_Silent_p.F144F|ACPL2_ENST00000393010.2_Silent_p.F144F|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Silent_p.F127F|ACPL2_ENST00000393007.1_Silent_p.F128F|ACPL2_ENST00000502783.1_Silent_p.F106F			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	144						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GAGCCTCTTTCGAAAGCCCCT	0.493000													5	118					0	0	0.001168	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454684	84454684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:84454684C>T	ENST00000377084.2	-	1	1844	c.959G>A	c.(958-960)aGa>aAa	p.R320K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	320						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGCTGTGGGTCTGATTTTGAT	0.557000													25	56					0	0	0.003330	0	0
OR5M11	219487	broad.mit.edu	37	11	56310287	56310287	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56310287G>A	ENST00000528616.2	-	1	470	c.447C>T	c.(445-447)gtC>gtT	p.V149V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGAAGCCATAGACATAGGGAA	0.527000													7	13					0	0	0.001984	0	0
ZNF70	7621	broad.mit.edu	37	22	24087234	24087234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:24087234C>T	ENST00000341976.3	-	2	554	c.94G>A	c.(94-96)Ggg>Agg	p.G32R		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	32						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AAAGGGTCCCCCAGGTCCTCC	0.488000													46	69					0	0	0.003610	0	0
RGS6	9628	broad.mit.edu	37	14	72976970	72976970	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:72976970C>T	ENST00000553530.1	+	14	1281	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	RGS6_ENST00000402788.2_Silent_p.F358F|RGS6_ENST00000355512.6_Silent_p.F358F|RGS6_ENST00000404301.2_Silent_p.F358F|RGS6_ENST00000554782.1_Silent_p.F219F|RGS6_ENST00000343854.6_Silent_p.F321F|RGS6_ENST00000434263.2_Silent_p.F289F|RGS6_ENST00000406236.4_Silent_p.F358F|RGS6_ENST00000553525.1_Silent_p.F358F|RGS6_ENST00000407322.4_Silent_p.F358F|RGS6_ENST00000555571.1_Silent_p.F358F|RGS6_ENST00000556437.1_Silent_p.F358F	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	358	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGTCCGAATTCAGTTCAGAAA	0.468000													61	98					0	0	0.003610	0	0
CPA3	1359	broad.mit.edu	37	3	148596253	148596253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:148596253G>A	ENST00000296046.3	+	4	347	c.295G>A	c.(295-297)Gag>Aag	p.E99K	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	99					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCTACAAGAAGAGATTGAGAA	0.343000													25	29					0	0	0.008361	0	0
ALPI	248	broad.mit.edu	37	2	233320917	233320917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:233320917G>A	ENST00000295463.3	+	1	85	c.8G>A	c.(7-9)gGg>gAg	p.G3E		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	3					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GACATGCAGGGGCCCTGGGTG	0.652000													15	13					0	0	0.003163	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355115	33355115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:33355115G>A	ENST00000023064.4	-	4	556	c.365C>T	c.(364-366)cCc>cTc	p.P122L	SLC7A9_ENST00000590341.1_Missense_Mutation_p.P122L|SLC7A9_ENST00000587772.1_Missense_Mutation_p.P122L	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	122					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GAAGGACGTGGGCTTAATGAC	0.577000													17	37					0	0	0.008871	0	0
CACNA1E	777	broad.mit.edu	37	1	181701970	181701970	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:181701970G>A	ENST00000526775.1	+	19	2856	c.2691G>A	c.(2689-2691)caG>caA	p.Q897Q	CACNA1E_ENST00000358338.5_Silent_p.Q848Q|CACNA1E_ENST00000367573.2_Silent_p.Q916Q|CACNA1E_ENST00000367567.4_Silent_p.Q523Q|CACNA1E_ENST00000357570.5_Silent_p.Q867Q|CACNA1E_ENST00000367570.1_Silent_p.Q916Q|CACNA1E_ENST00000360108.3_Silent_p.Q897Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	916					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCACAGGCAGAGCCAACGGC	0.662000													25	77					0	0	0.006320	0	0
SLC6A17	388662	broad.mit.edu	37	1	110734611	110734611	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:110734611C>T	ENST00000331565.4	+	7	1367	c.882C>T	c.(880-882)gaC>gaT	p.D294D		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	294					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		AGATGCTGGACCCCCAGGTGT	0.547000													36	20					0	0	0.007835	0	0
ZEB1	6935	broad.mit.edu	37	10	31809938	31809938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:31809938C>T	ENST00000446923.2	+	7	2018	c.1627C>T	c.(1627-1629)Cct>Tct	p.P543S	ZEB1_ENST00000320985.10_Missense_Mutation_p.P559S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P539S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P560S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P492S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	559					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TACTCAGCCTCCTCCACTCCC	0.463000													13	44					0	0	0.001368	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936196	209936196	+	Missense_Mutation	SNP	G	G	A	rs150703631	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:209936196G>A	ENST00000367024.1	+	5	1048	c.532G>A	c.(532-534)Gat>Aat	p.D178N	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.D158N|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.D158N|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.D158N|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.D178N			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	178						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AATTAAGAACGATGCCAGTCA	0.468000													53	72					0	0	0.003610	0	0
FOLR1	2348	broad.mit.edu	37	11	71903380	71903380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:71903380G>A	ENST00000393679.1	+	2	599	c.163G>A	c.(163-165)Gag>Aag	p.E55K	FOLR1_ENST00000393681.2_Missense_Mutation_p.E55K|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.E55K|FOLR1_ENST00000393676.3_Missense_Mutation_p.E55K			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	55					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CAAGTTGCATGAGCAGGTGGG	0.562000													36	140					0	0	0.006230	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455424	187455424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:187455424C>T	ENST00000307161.5	-	2	673	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	158					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGCAGGACGGCCGCCAGCGTC	0.602000													22	45					0	0	0.002780	0	0
KRT222	125113	broad.mit.edu	37	17	38812820	38812820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:38812820C>T	ENST00000476049.1	-	6	763	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	KRT222_ENST00000394052.3_Missense_Mutation_p.R241Q			Q8N1A0	KT222_HUMAN	keratin 222	241						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTTCCTCAATCGAGGGTTATC	0.338000													27	48					0	0	0.007291	0	0
OR2G3	81469	broad.mit.edu	37	1	247769031	247769031	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:247769031C>T	ENST00000320002.2	+	1	176	c.144C>T	c.(142-144)atC>atT	p.I48I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAATCATCATCTCATATCTGG	0.463000													83	153					0	0	0.003610	0	0
HDAC6	10013	broad.mit.edu	37	X	48674442	48674442	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:48674442C>T	ENST00000334136.5	+	17	1654	c.1476C>T	c.(1474-1476)caC>caT	p.H492H	HDAC6_ENST00000376619.2_Silent_p.H492H|HDAC6_ENST00000444343.2_Silent_p.H506H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	492	Histone deacetylase 2.				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)	TGATGAATCACTGCAACTTGT	0.567000													25	11					0	0	0.004656	0	0
ATP7B	540	broad.mit.edu	37	13	52539167	52539167	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:52539167G>A	ENST00000242839.4	-	5	1866	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	ATP7B_ENST00000448424.2_Silent_p.I570I|ATP7B_ENST00000400366.3_Silent_p.I459I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.I570I|ATP7B_ENST00000344297.5_Silent_p.I570I|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	570	HMA 6.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TCATCCCTGTGATCTGCAACA	0.537000									Wilson disease				15	46					0	0	0.002450	0	0
ASIC2	40	broad.mit.edu	37	17	31350947	31350947	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:31350947C>T	ENST00000225823.2	-	6	2153	c.1281G>A	c.(1279-1281)gtG>gtA	p.V427V	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Silent_p.V376V	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	376					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGGGGATCTTCACCATGGAGA	0.478000													31	22					0	0	0.003755	0	0
TMC5	79838	broad.mit.edu	37	16	19505675	19505675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:19505675G>A	ENST00000396229.2	+	20	3667	c.2918G>A	c.(2917-2919)aGg>aAg	p.R973K	TMC5_ENST00000381414.4_Missense_Mutation_p.R915K|TMC5_ENST00000564959.1_Missense_Mutation_p.R656K|TMC5_ENST00000561503.1_Missense_Mutation_p.R614K|TMC5_ENST00000542583.2_Missense_Mutation_p.R973K|TMC5_ENST00000541464.1_Missense_Mutation_p.R921K|TMC5_ENST00000219821.5_Missense_Mutation_p.R727K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	973						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTTCTGGAAAGGAGAGAGGTG	0.498000													18	55					0	0	0.006122	0	0
GRIA1	2890	broad.mit.edu	37	5	153190743	153190743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:153190743G>A	ENST00000285900.5	+	16	3022	c.2679G>A	c.(2677-2679)atG>atA	p.M893I	GRIA1_ENST00000448073.4_Missense_Mutation_p.M903I|GRIA1_ENST00000340592.5_Missense_Mutation_p.M893I|GRIA1_ENST00000518142.1_Missense_Mutation_p.M813I|GRIA1_ENST00000521843.2_Missense_Mutation_p.M824I|GRIA1_ENST00000518783.1_Missense_Mutation_p.M903I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	893					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.M893I(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCCTTGCATGAGCCACAGTT	0.627000													9	33					0	0	0.006214	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536472	27536472	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:27536472C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TTGTCAGGCCCCTGCTCTATG	0.552000													4	19					0	0	0.000248	0	0
AGAP7	653268	broad.mit.edu	37	10	51465404	51465404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:51465404G>A	ENST00000374095.5	-	7	1177	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	351	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GAAGCATATGGAGTCACCCAG	0.547000													42	165					0	0	0.002222	0	0
COL12A1	1303	broad.mit.edu	37	6	75833061	75833061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:75833061G>A	ENST00000322507.8	-	43	7240	c.6931C>T	c.(6931-6933)Cca>Tca	p.P2311S	COL12A1_ENST00000483888.2_Missense_Mutation_p.P2311S|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2311S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1147S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2311					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CGGGCTGGTGGAATGGTGGGA	0.433000													5	12					0	0	0.001168	0	0
DNASE1L2	1775	broad.mit.edu	37	16	2287545	2287545	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2287545G>A	ENST00000564065.1	+	4	1487	c.486G>A	c.(484-486)caG>caA	p.Q162Q	DNASE1L2_ENST00000567494.1_Silent_p.Q162Q|DNASE1L2_ENST00000382437.4_Silent_p.Q141Q|DNASE1L2_ENST00000320700.5_Silent_p.Q162Q			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	162					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding			endometrium(1)|prostate(1)|skin(2)	4						CAGCAGCACAGAACCTGGTGC	0.701000													3	4					0	0	0.004672	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37465272	37465272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:37465272C>T	ENST00000381792.2	-	16	2094	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E652K|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E661K|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E652K			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	661	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGTCCTCTTCGTGGTACGGG	0.692000													7	15					0	0	0.006214	0	0
ZNF99	7652	broad.mit.edu	37	19	22941052	22941052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22941052C>T	ENST00000397104.3	-	5	1385	c.1386G>A	c.(1384-1386)atG>atA	p.M462I	ZNF99_ENST00000596209.1_Missense_Mutation_p.M553I					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCATAAGGGTTG	0.333000													12	22					0	0	0.000978	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145781006	145781006	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:145781006G>A	ENST00000276826.5	-	3	735	c.534C>T	c.(532-534)ttC>ttT	p.F178F	ARHGAP39_ENST00000540274.1_Silent_p.F178F|ARHGAP39_ENST00000377307.2_Silent_p.F178F			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	178					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCTTCTCAAGGAACACTCCTG	0.453000													40	108					0	0	0.002522	0	0
LMO7	4008	broad.mit.edu	37	13	76408439	76408439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:76408439G>A	ENST00000357063.3	+	18	4558	c.3298G>A	c.(3298-3300)Gat>Aat	p.D1100N	LMO7_ENST00000377534.3_Missense_Mutation_p.D1100N|LMO7_ENST00000341547.4_Missense_Mutation_p.D766N|LMO7_ENST00000526202.1_Missense_Mutation_p.D665N|LMO7_ENST00000321797.8_Missense_Mutation_p.D815N|LMO7_ENST00000465261.2_Missense_Mutation_p.D815N			Q8WWI1	LMO7_HUMAN	LIM domain 7	1100	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCATATAACGATTCAAAAGA	0.398000													41	79					0	0	0.006999	0	0
HFM1	164045	broad.mit.edu	37	1	91740330	91740330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:91740330C>T	ENST00000370425.3	-	33	3723	c.3625G>A	c.(3625-3627)Gag>Aag	p.E1209K	HFM1_ENST00000370424.3_Missense_Mutation_p.E888K|HFM1_ENST00000294696.5_Missense_Mutation_p.E441K|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1209							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAACCAAACTCTTTAAGGTCC	0.303000													12	66					0	0	0.003163	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38809232	38809232	+	Silent	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:38809232T>C	ENST00000449105.2	-	5	1050	c.711A>G	c.(709-711)ctA>ctG	p.L237L	HNRNPLL_ENST00000358367.4_Silent_p.L237L|HNRNPLL_ENST00000409636.1_Silent_p.L232L|HNRNPLL_ENST00000409328.1_Intron|HNRNPLL_ENST00000410076.1_Silent_p.L232L|HNRNPLL_ENST00000378915.3_Intron	NM_138394.3	NP_612403.2			heterogeneous nuclear ribonucleoprotein L-like																		ATTCAATTTTTAGTGTGCAAC	0.338000													7	38					0	0	0.004482	0	0
PARD3	56288	broad.mit.edu	37	10	34636950	34636950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:34636950C>T	ENST00000374789.3	-	15	2486	c.2161G>A	c.(2161-2163)Ggg>Agg	p.G721R	PARD3_ENST00000374773.1_Missense_Mutation_p.G721R|PARD3_ENST00000544292.1_Missense_Mutation_p.G438R|PARD3_ENST00000545693.1_Missense_Mutation_p.G708R|PARD3_ENST00000545260.1_Missense_Mutation_p.G664R|PARD3_ENST00000374768.1_Missense_Mutation_p.G159R|PARD3_ENST00000346874.4_Missense_Mutation_p.G721R|PARD3_ENST00000374788.3_Missense_Mutation_p.G721R|PARD3_ENST00000374794.3_Missense_Mutation_p.G664R|PARD3_ENST00000350537.4_Missense_Mutation_p.G708R|PARD3_ENST00000340077.5_Missense_Mutation_p.G721R|PARD3_ENST00000374790.3_Missense_Mutation_p.G664R|PARD3_ENST00000374776.1_Missense_Mutation_p.G708R	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	721	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCCTCAATCCCACTGTAGAGG	0.488000													12	38					0	0	0.001855	0	0
FAM174B	400451	broad.mit.edu	37	15	93173526	93173526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:93173526G>A	ENST00000327355.5	-	2	692	c.394C>T	c.(394-396)Cca>Tca	p.P132S	FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	132						integral to membrane				endometrium(2)|lung(1)	3						CGCTCTGCTGGAGTGGTGATG	0.473000													9	36					0	0	0.006214	0	0
SKA1	220134	broad.mit.edu	37	18	47911610	47911610	+	Silent	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:47911610T>G	ENST00000285116.3	+	5	547	c.336T>G	c.(334-336)ccT>ccG	p.P112P	SKA1_ENST00000398452.2_Silent_p.P112P|SKA1_ENST00000488454.1_Intron|SKA1_ENST00000417656.2_Intron	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	112					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATCTTGATCCTGAAGAACCAA	0.373000													30	100					0	0	0.002096	0	0
C8orf44	56260	broad.mit.edu	37	8	67592026	67592026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:67592026C>T	ENST00000519561.1	+	3	468	c.317C>T	c.(316-318)tCt>tTt	p.S106F	C8orf44_ENST00000390159.3_Missense_Mutation_p.S106F|C8orf44-SGK3_ENST00000519289.1_5'UTR|C8orf44-SGK3_ENST00000520044.1_3'UTR|C8orf44_ENST00000518860.1_3'UTR	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	106										endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CAAAAGGGGTCTTTGGCCATC	0.418000													31	45					0	0	0.002096	0	0
PRG3	10394	broad.mit.edu	37	11	57147044	57147044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:57147044C>T	ENST00000287143.2	-	3	407	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	100					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CCCTGCACTTCAACAATGTCT	0.517000													32	104					0	0	0.008361	0	0
PPL	5493	broad.mit.edu	37	16	4934167	4934167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:4934167C>T	ENST00000345988.2	-	22	4578	c.4489G>A	c.(4489-4491)Gag>Aag	p.E1497K	PPL_ENST00000590782.2_Missense_Mutation_p.E1495K	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1497					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACCACCTTCTCCTTGACCTCC	0.632000													24	26					0	0	0.006320	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62781359	62781359	+	RNA	SNP	A	A	G	rs3186956		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:62781359A>G	ENST00000582986.1	-	0	2491					NR_024386.1																						TCAGAGTGGGATCAGCAGAGG	0.607000													6	15					0	0	0.001168	0	0
DAPP1	27071	broad.mit.edu	37	4	100789302	100789302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:100789302G>A	ENST00000512369.1	+	9	871	c.803G>A	c.(802-804)gGg>gAg	p.G268E	DAPP1_ENST00000296414.7_3'UTR	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	268					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		CTCAACCAAGGGGAAGGCACG	0.428000													5	78					0	0	0.001168	0	0
XYLT1	64131	broad.mit.edu	37	16	17228497	17228497	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:17228497G>A	ENST00000261381.6	-	9	1944	c.1860C>T	c.(1858-1860)taC>taT	p.Y620Y	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	620					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TACCTGCAGGGTAGTTCCCGT	0.567000													28	96					0	0	0.005443	0	0
FAM19A2	338811	broad.mit.edu	37	12	62104169	62104169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:62104169C>T	ENST00000551449.1	-	3	314	c.136G>A	c.(136-138)Gat>Aat	p.D46N	FAM19A2_ENST00000416284.3_3'UTR|FAM19A2_ENST00000551619.1_3'UTR|FAM19A2_ENST00000550003.1_3'UTR			Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	0						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CCTTGAGGATCACTTGATTTC	0.358000													52	146					0	0	0.003610	0	0
SLC4A10	57282	broad.mit.edu	37	2	162833319	162833319	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:162833319T>G	ENST00000375514.5	+	25	3507	c.3220T>G	c.(3220-3222)Ttg>Gtg	p.L1074V	SLC4A10_ENST00000446997.1_Missense_Mutation_p.L1093V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.L1063V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.L1063V|SLC4A10_ENST00000421911.1_Intron	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1093					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGACTGCCTTGTGGAGGAA	0.343000													7	11					0	0	0.004482	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256527	24256527	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:24256527G>A	ENST00000538205.1	+	10	1213	c.666G>A	c.(664-666)aaG>aaA	p.K222K	ADAMDEC1_ENST00000256412.4_Silent_p.K301K|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.K222K|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	301	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TGGGGAAAAAGATCCACGACC	0.512000													10	31					0	0	0.000978	0	0
FRMPD2	143162	broad.mit.edu	37	10	49440233	49440233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:49440233C>T	ENST00000374201.3	-	10	1395	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	FRMPD2_ENST00000305531.3_Missense_Mutation_p.G341R|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G334R	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	365	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AAGACAGCTCCCACTGTTGAT	0.493000													33	38					0	0	0.003271	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458670	90458670	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:90458670C>T	ENST00000603238.1	+	2	346	c.346C>T	c.(346-348)Cc>Tc	p.116del																								CAGTACCCCTCCCACAGCGTT	0.517000													12	332					0	0	0.002450	0	0
CCDC136	64753	broad.mit.edu	37	7	128455871	128455871	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:128455871G>A	ENST00000297788.4	+	16	3616	c.3249G>A	c.(3247-3249)gaG>gaA	p.E1083E	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1083	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						aaaatgaagaggacaaagagg	0.488000													9	8					0	0	0.006214	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146558	70146558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70146558G>A	ENST00000335568.5	+	1	342	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E114K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	114					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ACAAGAACAAGAAATCCTGTG	0.289000													62	88					0	0	0.003610	0	0
MCHR2	84539	broad.mit.edu	37	6	100403862	100403862	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:100403862G>A	ENST00000281806.2	-	2	476	c.162C>T	c.(160-162)ctC>ctT	p.L54L	MCHR2_ENST00000445970.1_Silent_p.L54L|MCHR2_ENST00000369212.1_Silent_p.L54L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	54						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGAATACAATGAGGATGTTGC	0.388000													17	30					0	0	0.006122	0	0
ACMSD	130013	broad.mit.edu	37	2	135630063	135630063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:135630063G>A	ENST00000356140.5	+	8	837	c.701G>A	c.(700-702)gGa>gAa	p.G234E	ACMSD_ENST00000283054.4_Missense_Mutation_p.G176E|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000537615.1_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.G176E	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	234					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTCACAGTGGGAAGAATCTCC	0.468000													12	22					0	0	0.003163	0	0
RDH12	145226	broad.mit.edu	37	14	68193771	68193771	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:68193771C>T	ENST00000551171.1	+	7	846	c.522C>T	c.(520-522)tcC>tcT	p.S174S	RDH12_ENST00000539142.1_Silent_p.S174S|RDH12_ENST00000267502.3_Silent_p.S174S	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	174					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TTAATGTGTCCTCGGTGGCTC	0.582000													14	48					0	0	0.004990	0	0
ERBB4	2066	broad.mit.edu	37	2	212426789	212426789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:212426789C>T	ENST00000342788.4	-	20	2636	c.2326G>A	c.(2326-2328)Gat>Aat	p.D776N	ERBB4_ENST00000402597.1_Missense_Mutation_p.D766N|ERBB4_ENST00000436443.1_Missense_Mutation_p.D776N	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	776	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTGGATGATCCATACTTGCC	0.433000										TSP Lung(8;0.080)			18	49					0	0	0.007413	0	0
LRRN1	57633	broad.mit.edu	37	3	3887126	3887126	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:3887126C>T	ENST00000319331.3	+	2	1562	c.801C>T	c.(799-801)ttC>ttT	p.F267F	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	267						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATTTGAAATTCTTAGACCTCA	0.408000													25	38					0	0	0.004656	0	0
CSMD1	64478	broad.mit.edu	37	8	2830813	2830813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:2830813G>A	ENST00000602557.1	-	58	9307	c.8752C>T	c.(8752-8754)Cct>Tct	p.P2918S	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2860S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2859S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2860S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2917S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P2918S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2918						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGAATCCAGGATTATTTCCT	0.428000													100	181					0	0	0.003610	0	0
DPP10	57628	broad.mit.edu	37	2	116066841	116066841	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:116066841G>A	ENST00000410059.1	+	2	567	c.87G>A	c.(85-87)caG>caA	p.Q29Q	DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Silent_p.Q22Q|DPP10_ENST00000393147.2_Silent_p.Q33Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	29	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GCCCTCCACAGAGAAACTGGA	0.393000													11	28					0	0	0.001368	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398203	77398203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:77398203G>A	ENST00000282849.5	-	5	1272	c.854C>T	c.(853-855)tCa>tTa	p.S285L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	285					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S285*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTTCCAGCTGATCTTCTGGG	0.483000													20	41					0	0	0.001882	0	0
ZNF676	163223	broad.mit.edu	37	19	22363177	22363177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22363177G>A	ENST00000397121.2	-	3	1659	c.1342C>T	c.(1342-1344)Ccc>Tcc	p.P448S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATTTGTAGGGTTTCTCTCCA	0.433000													30	42					0	0	0.001786	0	0
TRPC7	57113	broad.mit.edu	37	5	135583173	135583173	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:135583173G>A	ENST00000513104.1	-	7	2112	c.1830C>T	c.(1828-1830)aaC>aaT	p.N610N	TRPC7_ENST00000426057.2_Silent_p.N494N|TRPC7_ENST00000355180.3_Silent_p.N549N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	610					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAAACGCTGGGTTGTATTTGG	0.473000													33	23					0	0	0.002445	0	0
NEB	4703	broad.mit.edu	37	2	152512907	152512907	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:152512907G>A	ENST00000427231.2	-	49	6457	c.6255C>T	c.(6253-6255)ccC>ccT	p.P2085P	NEB_ENST00000409198.1_Silent_p.P2085P|NEB_ENST00000603639.1_Silent_p.P2085P|NEB_ENST00000172853.10_Silent_p.P2085P|NEB_ENST00000604864.1_Silent_p.P2085P|NEB_ENST00000397345.3_Silent_p.P2085P	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2085					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGACTAATTTGGGATCATCCT	0.413000													55	57					0	0	0.003610	0	0
OR8A1	390275	broad.mit.edu	37	11	124440061	124440061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:124440061G>A	ENST00000284287.3	+	1	169	c.97G>A	c.(97-99)Ggt>Agt	p.G33S		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CATTCTCAAGGGTTTAACGAA	0.522000													26	16					0	0	0.006320	0	0
C11orf53	341032	broad.mit.edu	37	11	111156661	111156661	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:111156661T>A	ENST00000280325.4	+	4	740	c.593T>A	c.(592-594)gTg>gAg	p.V198E		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	198										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCGCCCAAGGTGGGGCCACTC	0.577000													50	21					0	0	0.003610	0	0
NEU2	4759	broad.mit.edu	37	2	233899191	233899191	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:233899191G>A	ENST00000233840.3	+	2	567	c.567G>A	c.(565-567)agG>agA	p.R189R		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	189							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCATCCAAAGGCCGATCCCCT	0.662000													34	30					0	0	0.003755	0	0
KIF18B	146909	broad.mit.edu	37	17	43009596	43009596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:43009596G>A	ENST00000587309.1	-	10	1276	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	KIF18B_ENST00000339151.4_Missense_Mutation_p.P418L|KIF18B_ENST00000590129.1_Missense_Mutation_p.P427L|KIF18B_ENST00000438933.2_Missense_Mutation_p.P418L|KIF18B_ENST00000593135.1_Intron	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGGTGGCAAGGGGGAGCTGGG	0.667000													20	22					0	0	0.001882	0	0
ROS1	6098	broad.mit.edu	37	6	117686325	117686325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:117686325C>T	ENST00000368508.3	-	20	3214	c.3016G>A	c.(3016-3018)Gaa>Aaa	p.E1006K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E1001K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1006	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCCAGTCCTTCCACAGTAAAT	0.373000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								12	50					0	0	0.001855	0	0
TMCO5A	145942	broad.mit.edu	37	15	38233393	38233393	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:38233393A>T	ENST00000558158.1	+	7	585	c.431A>T	c.(430-432)aAg>aTg	p.K144M	TMCO5A_ENST00000559502.1_Missense_Mutation_p.K144M|TMCO5A_ENST00000540944.1_Missense_Mutation_p.K144M|TMCO5A_ENST00000319669.4_Missense_Mutation_p.K144M			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	144						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TGCCAAGAGAAGGAGCTGCTC	0.423000													15	34					0	0	0.004990	0	0
SMPD3	55512	broad.mit.edu	37	16	68405116	68405116	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:68405116G>A	ENST00000219334.5	-	3	1572	c.969C>T	c.(967-969)ctC>ctT	p.L323L	SMPD3_ENST00000568373.1_Silent_p.L323L|SMPD3_ENST00000563226.1_Silent_p.L323L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	323					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCTTGTACAGGAGCTTGCTGT	0.697000													6	38					0	0	0.001168	0	0
ATG2A	23130	broad.mit.edu	37	11	64668368	64668368	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:64668368T>A	ENST00000421419.2	-	30	4436	c.4322A>T	c.(4321-4323)cAc>cTc	p.H1441L	ATG2A_ENST00000377264.3_Missense_Mutation_p.H1439L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1439							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTGGCCGGGGTGGGGGCCAAA	0.657000													3	4					0	0	0.004672	0	0
FRY	10129	broad.mit.edu	37	13	32811634	32811634	+	Silent	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:32811634C>A	ENST00000380250.3	+	44	6425	c.5929C>A	c.(5929-5931)Cgg>Agg	p.R1977R		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1977					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGAACGGAGCCGGCATCAACG	0.537000													11	19					6.40141e-05	7.07494e-05	0.000978	1	0
ZNF812	729648	broad.mit.edu	37	19	9801330	9801330	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9801330C>T	ENST00000457674.2	-	5	1367	c.849G>A	c.(847-849)ggG>ggA	p.G283G	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGAAGGCTTTCCCACATTCCG	0.378000													26	54					0	0	0.004656	0	0
NLRP10	338322	broad.mit.edu	37	11	7981952	7981952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7981952C>T	ENST00000328600.2	-	2	1368	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	403	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGGAAAGCTCGGAGCAGCCC	0.537000													24	52					0	0	0.003330	0	0
SEC14L1	6397	broad.mit.edu	37	17	75202465	75202465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:75202465C>T	ENST00000413679.2	+	12	1627	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S	SEC14L1_ENST00000430767.4_Missense_Mutation_p.P442S|SEC14L1_ENST00000436233.4_Missense_Mutation_p.P442S|SEC14L1_ENST00000392476.2_Missense_Mutation_p.P442S|SEC14L1_ENST00000431431.2_Missense_Mutation_p.P408S|SEC14L1_ENST00000591437.1_Missense_Mutation_p.P408S|SEC14L1_ENST00000443798.4_Missense_Mutation_p.P442S|SEC14L1_ENST00000585618.1_Missense_Mutation_p.P442S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	442	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CAGGGTATTTCCTGTGCTCTG	0.542000													28	37					0	0	0.002445	0	0
ATRN	8455	broad.mit.edu	37	20	3578606	3578606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:3578606C>T	ENST00000262919.5	+	22	3591	c.3523C>T	c.(3523-3525)Cgc>Tgc	p.R1175C	ATRN_ENST00000446916.2_Missense_Mutation_p.R1175C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1175					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GGAAGATGATCGCTATTACAC	0.318000													52	123					0	0	0.003610	0	0
CCDC141	285025	broad.mit.edu	37	2	179714883	179714883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179714883C>T	ENST00000420890.2	-	21	3367	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E509K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	509							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTCCTTCTTCCAAACCTGGG	0.383000													19	22					0	0	0.007413	0	0
OR8B2	26595	broad.mit.edu	37	11	124252876	124252876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:124252876G>A	ENST00000375013.2	-	1	382	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCCACATAGCGATCATATGCC	0.413000													15	10					0	0	0.002450	0	0
OR8D2	283160	broad.mit.edu	37	11	124189931	124189931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:124189931G>A	ENST00000357438.2	-	1	253	c.163C>T	c.(163-165)Ctt>Ttt	p.L55F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GGAGGGTAAAGTTGAGAACTG	0.433000													34	20					0	0	0.002096	0	0
FRAS1	80144	broad.mit.edu	37	4	79366899	79366899	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:79366899C>T	ENST00000325942.6	+	42	6329	c.5889C>T	c.(5887-5889)ccC>ccT	p.P1963P	FRAS1_ENST00000264895.6_Intron	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	0					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGTTGAGCCCTTGACCACAA	0.363000													76	107					0	0	0.003610	0	0
WDR7	23335	broad.mit.edu	37	18	54424156	54424156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:54424156C>T	ENST00000254442.3	+	15	2543	c.2332C>T	c.(2332-2334)Cct>Tct	p.P778S	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.P778S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	778										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGAAAGTGATCCTGAATATCG	0.428000													6	26					0	0	0.001168	0	0
HOXD10	3236	broad.mit.edu	37	2	176982161	176982161	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:176982161G>T	ENST00000249501.4	+	1	855	c.600G>T	c.(598-600)aaG>aaT	p.K200N	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	200						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TGGAAAAGAAGATGAACGAGC	0.642000													9	37					0.000274275	0.000302595	0.004482	1	0
EZH2	2146	broad.mit.edu	37	7	148524336	148524336	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:148524336C>T	ENST00000320356.2	-	7	769	c.648G>A	c.(646-648)cgG>cgA	p.R216R	EZH2_ENST00000536783.1_Silent_p.R107R|EZH2_ENST00000476773.1_Silent_p.R207R|EZH2_ENST00000541220.1_Silent_p.R207R|EZH2_ENST00000478654.1_Silent_p.R207R|EZH2_ENST00000483967.1_Silent_p.R207R|EZH2_ENST00000460911.1_Silent_p.R216R|EZH2_ENST00000350995.2_Silent_p.R177R	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	216	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AAGGAAATTTCCGAGGTGGGC	0.338000			Mis		DLBCL								52	100					0	0	0.003610	0	0
FIGN	55137	broad.mit.edu	37	2	164466984	164466984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:164466984G>A	ENST00000333129.3	-	3	1672	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	453						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGAGTGGTTGGATGAGGTAGC	0.542000													14	39					0	0	0.001855	0	0
LRRN1	57633	broad.mit.edu	37	3	3887429	3887429	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:3887429C>T	ENST00000319331.3	+	2	1865	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	368						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGATCAGTATCCATAGCAATC	0.493000													23	60					0	0	0.004656	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730451	140730451	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140730451C>T	ENST00000523390.1	+	1	624	c.624C>T	c.(622-624)atC>atT	p.I208I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGCTTAATCCTGACTGCCA	0.507000													13	67					0	0	0.001368	0	0
MPP4	58538	broad.mit.edu	37	2	202545643	202545643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:202545643C>T	ENST00000409474.3	-	10	1054	c.847G>A	c.(847-849)Gat>Aat	p.D283N	MPP4_ENST00000409143.1_Missense_Mutation_p.D256N|MPP4_ENST00000447335.2_Missense_Mutation_p.D283N|MPP4_ENST00000359962.5_Missense_Mutation_p.D283N|MPP4_ENST00000396886.3_Missense_Mutation_p.D239N|MPP4_ENST00000428900.2_Missense_Mutation_p.D283N|MPP4_ENST00000315506.7_Missense_Mutation_p.D270N	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	283	SH3.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CAGAGGGCATCATTCTGGTCC	0.567000											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	16					0	0	0.000602	0	0
SLC6A5	9152	broad.mit.edu	37	11	20649547	20649547	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:20649547C>T	ENST00000525748.1	+	9	1690	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	473					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.Q473E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCTGCCACTCAGATTTTCTT	0.493000													9	49					0	0	0.006214	0	0
DKK3	27122	broad.mit.edu	37	11	11986121	11986121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:11986121C>T	ENST00000396505.2	-	8	1181	c.943G>A	c.(943-945)Gag>Aag	p.E315K	DKK3_ENST00000525493.1_Missense_Mutation_p.E329K|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Missense_Mutation_p.E315K|DKK3_ENST00000450094.2_Missense_Mutation_p.E287K	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	315					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CGCACCTCCTCCATGAAGCTG	0.637000													47	51					0	0	0.002522	0	0
KIAA1467	57613	broad.mit.edu	37	12	13232794	13232794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:13232794C>T	ENST00000197268.8	+	12	1834	c.1714C>T	c.(1714-1716)Cca>Tca	p.P572S		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	572						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CGAAGGCCATCCAGCAGCCCT	0.532000													21	38					0	0	0.002299	0	0
SEMG2	6407	broad.mit.edu	37	20	43850512	43850512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:43850512G>A	ENST00000372769.3	+	2	329	c.239G>A	c.(238-240)cGa>cAa	p.R80Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	80	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GACTGGACCCGAAAAAGTCAG	0.368000													30	42					0	0	0.002836	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190850	32190850	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32190850C>T	ENST00000375023.3	-	2	225	c.87G>A	c.(85-87)ggG>ggA	p.G29G		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	29	EGF-like 1.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGGGAAACTCCCACACAGCA	0.617000													86	158					0	0	0.003610	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375886	93375886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:93375886G>A	ENST00000375765.3	-	2	612	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	75					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTGGAGATGGACAGCCGCTG	0.557000													35	34					0	0	0.002836	0	0
TP53BP1	7158	broad.mit.edu	37	15	43705380	43705380	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:43705380C>A	ENST00000263801.3	-	24	5479	c.5227G>T	c.(5227-5229)Gac>Tac	p.D1743Y	TP53BP1_ENST00000382044.4_Missense_Mutation_p.D1748Y|TP53BP1_ENST00000382039.3_Missense_Mutation_p.D1698Y|TP53BP1_ENST00000450115.2_Missense_Mutation_p.D1746Y	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1743	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCCAACTTGTCACTGGTTGTG	0.552000								Other conserved DNA damage response genes					20	47					1.96895e-08	2.18323e-08	0.002780	1	0
CASZ1	54897	broad.mit.edu	37	1	10713736	10713736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:10713736G>A	ENST00000377022.3	-	11	2695	c.2378C>T	c.(2377-2379)tCg>tTg	p.S793L	CASZ1_ENST00000344008.5_Missense_Mutation_p.S793L|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	793					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGCAGGCCCGAGTTGGAGAG	0.701000													21	36					0	0	0.004656	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643682	37643682	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:37643682C>T	ENST00000356958.4	-	5	1377	c.1119G>A	c.(1117-1119)caG>caA	p.Q373Q	ZNF585A_ENST00000292841.5_Silent_p.Q318Q|ZNF585A_ENST00000392157.2_Silent_p.Q318Q|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGAATTCTCTGATGAATAA	0.423000													32	54					0	0	0.001786	0	0
FAM135A	57579	broad.mit.edu	37	6	71185130	71185130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:71185130C>T	ENST00000418814.2	+	6	789	c.175C>T	c.(175-177)Cca>Tca	p.P59S	FAM135A_ENST00000505769.1_Missense_Mutation_p.P59S|FAM135A_ENST00000361499.3_Missense_Mutation_p.P59S|FAM135A_ENST00000505868.1_Missense_Mutation_p.P59S|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000370479.3_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	59										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTTAGCCTTTCCAGCCTCAGT	0.269000													6	10					0	0	0.001984	0	0
YIF1B	90522	broad.mit.edu	37	19	38799966	38799966	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38799966G>A	ENST00000392124.3	-	2	521	c.207C>T	c.(205-207)atC>atT	p.I69I	YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000591784.1_Silent_p.I69I|YIF1B_ENST00000592694.1_Silent_p.I69I|YIF1B_ENST00000592246.1_Intron|YIF1B_ENST00000339413.6_Silent_p.I100I|YIF1B_ENST00000337679.8_Silent_p.I97I|YIF1B_ENST00000591755.1_Silent_p.I97I|YIF1B_ENST00000329420.8_Silent_p.I85I	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	100						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGAAGCGGTCGATCTGGGGAG	0.587000													45	83					0	0	0.002852	0	0
SLC22A12	116085	broad.mit.edu	37	11	64367185	64367185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:64367185G>A	ENST00000377574.1	+	7	1855	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N	SLC22A12_ENST00000377567.2_Missense_Mutation_p.D262N|SLC22A12_ENST00000336464.7_Missense_Mutation_p.D336N|SLC22A12_ENST00000473690.1_Missense_Mutation_p.D149N|SLC22A12_ENST00000377572.1_Missense_Mutation_p.D262N	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	370					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CCTGGCCCTGGACCTGCAGGC	0.657000													9	36					0	0	0.006214	0	0
PMPCB	9512	broad.mit.edu	37	7	102948111	102948111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:102948111G>A	ENST00000249269.4	+	7	843	c.805G>A	c.(805-807)Gga>Aga	p.G269R	PMPCB_ENST00000420236.2_Missense_Mutation_p.G164R|PMPCB_ENST00000428154.1_Missense_Mutation_p.G269R	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	269					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACACACAAAGGAGAAATACC	0.393000													9	38					0	0	0.008291	0	0
CDT1	81620	broad.mit.edu	37	16	88872152	88872152	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:88872152T>C	ENST00000301019.4	+	5	1326	c.707T>C	c.(706-708)gTt>gCt	p.V236A		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	236					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GAGTGCAATGTTGGCCAGATC	0.652000													13	39					0	0	0.001855	0	0
SLC28A2	9153	broad.mit.edu	37	15	45545416	45545416	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:45545416G>A	ENST00000347644.3	+	2	68	c.3G>A	c.(1-3)atG>atA	p.M1I	CTD-2651B20.3_ENST00000559003.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	1					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AACAGGAGATGGAGAAAGCAA	0.483000													19	16					0	0	0.001523	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432604	104432604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:104432604C>T	ENST00000361820.3	-	3	2690	c.2090G>A	c.(2089-2091)tGg>tAg	p.W697*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	697					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGGACTCTTCCATTCATACAG	0.488000													54	40					0	0	0.003610	0	0
VPS13A	23230	broad.mit.edu	37	9	79865028	79865028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:79865028C>T	ENST00000360280.3	+	21	2313	c.2053C>T	c.(2053-2055)Cgt>Tgt	p.R685C	VPS13A_ENST00000376634.4_Missense_Mutation_p.R685C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R685C|VPS13A_ENST00000357409.5_Missense_Mutation_p.R685C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	685					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGTAAAAGTCGTTCTGAATT	0.294000													20	14					0	0	0.001523	0	0
GPX6	257202	broad.mit.edu	37	6	28472197	28472197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:28472197G>A	ENST00000361902.1	-	5	587	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	GPX6_ENST00000474923.1_Silent_p.S146S	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	180					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AAGTTCCAGCGGATATCATGG	0.522000													24	56					0	0	0.002299	0	0
OR4A15	81328	broad.mit.edu	37	11	55135551	55135551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55135551G>A	ENST00000314706.3	+	1	192	c.192G>A	c.(190-192)atG>atA	p.M64I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TAATCTACATGGTGACGATAA	0.418000													27	32					0	0	0.004656	0	0
KIF26B	55083	broad.mit.edu	37	1	245852056	245852056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:245852056C>T	ENST00000366518.4	+	9	4732	c.4628C>T	c.(4627-4629)tCc>tTc	p.S1543F	KIF26B_ENST00000407071.2_Missense_Mutation_p.S1924F			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1924					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AACAGCAGCTCCGTGGGCGGC	0.716000													6	20					0	0	0.001984	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924026	43924026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:43924026C>T	ENST00000329196.5	+	1	1771	c.1754C>T	c.(1753-1755)aCc>aTc	p.T585I	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	585						integral to membrane	aspartic-type endopeptidase activity										GAGATTGTCACCATATCTGAG	0.572000													48	74					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152286887	152286887	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:152286887T>A	ENST00000368799.1	-	3	510	c.475A>T	c.(475-477)Aaa>Taa	p.K159*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	159					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTTTCTTTTTTTTCAGAA	0.348000									Ichthyosis				36	65					0	0	0.004289	0	0
FBXL18	80028	broad.mit.edu	37	7	5545201	5545201	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:5545201G>T	ENST00000382368.3	-	2	202	c.79C>A	c.(79-81)Cac>Aac	p.H27N	FBXL18_ENST00000453700.3_Missense_Mutation_p.H27N	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	27	F-box.								FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CCTAGGAGGTGGACCCCGTCT	0.552000													36	70					1.30475e-32	1.46416e-32	0.002222	1	0
OLIG3	167826	broad.mit.edu	37	6	137814848	137814848	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:137814848C>G	ENST00000367734.2	-	1	683	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GAGTGGTGGCCCCCATAGATC	0.662000													13	25					0	0	0.002450	0	0
COL11A1	1301	broad.mit.edu	37	1	103496800	103496800	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:103496800C>T	ENST00000358392.2	-	5	969	c.651_splice	c.e5-1	p.G218_splice	COL11A1_ENST00000353414.4_Splice_Site_p.G218_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G218_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G218_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	218	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGAATGTCCCCCTGGGAAAAA	0.383000													5	14					0	0	0.000602	0	0
DAO	1610	broad.mit.edu	37	12	109284019	109284019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:109284019G>A	ENST00000228476.3	+	5	626	c.422G>A	c.(421-423)gGa>gAa	p.G141E	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	141					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						ATTCTGGAGGGAAAGAACTAT	0.438000													30	46					0	0	0.002445	0	0
COL4A4	1286	broad.mit.edu	37	2	227896927	227896927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:227896927G>A	ENST00000396625.3	-	39	3850	c.3643C>T	c.(3643-3645)Cct>Tct	p.P1215S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1215S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1215	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGCTCCCAGGGTCTCCTCTC	0.512000													37	47					0	0	0.003755	0	0
ANK3	288	broad.mit.edu	37	10	61959913	61959913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:61959913C>T	ENST00000280772.1	-	13	1656	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	ANK3_ENST00000373827.2_Missense_Mutation_p.G483R|ANK3_ENST00000503366.1_Missense_Mutation_p.G472R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	489					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACCTGAGCTCCGTCTTGTACC	0.428000													16	29					0	0	0.004990	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485261	97485261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:97485261G>A	ENST00000376705.2	+	2	1249	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	409						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCAGCTTTACGAGTATGCAAA	0.572000													44	45					0	0	0.008740	0	0
RPTOR	57521	broad.mit.edu	37	17	78897336	78897336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:78897336G>A	ENST00000306801.3	+	23	3033	c.2671G>A	c.(2671-2673)Gat>Aat	p.D891N	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.D733N	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	891					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCTGACCAACGATGTGGCCAA	0.652000													19	29					0	0	0.001523	0	0
GXYLT2	727936	broad.mit.edu	37	3	73004310	73004310	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:73004310C>A	ENST00000389617.4	+	4	823	c.662C>A	c.(661-663)cCt>cAt	p.P221H		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	221					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TTTCTGAGACCTGTTGATGAC	0.517000													17	32					2.23348e-06	2.47141e-06	0.004007	1	0
VEGFC	7424	broad.mit.edu	37	4	177608341	177608341	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:177608341C>T	ENST00000280193.2	-	6	1560	c.1145_splice	c.e6+1	p.S382_splice	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	382					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GATCTCTTACCTGCATGTTTG	0.348000													64	87					0	0	0.003610	0	0
XPO5	57510	broad.mit.edu	37	6	43526285	43526285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:43526285G>A	ENST00000265351.7	-	12	1475	c.1265C>T	c.(1264-1266)tCt>tTt	p.S422F	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	422					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ATCAAACCGAGAATATTCACA	0.423000													9	13					0	0	0.004482	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206902411	206902411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:206902411C>T	ENST00000367103.3	+	3	644	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	MAPKAPK2_ENST00000294981.4_Nonsense_Mutation_p.Q151*	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	151	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TAGCCGAATCCAGGATCGAGG	0.567000													12	30					0	0	0.003163	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838578	16838578	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:16838578G>A	ENST00000355661.3	-	11	1645	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	PLEKHA7_ENST00000531066.1_Silent_p.S545S|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.S545S			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	545	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGAACTCTGGGGAGCCAAGGC	0.697000													25	24					0	0	0.003954	0	0
PIGT	51604	broad.mit.edu	37	20	44047558	44047558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:44047558C>T	ENST00000535404.1	+	3	446	c.68C>T	c.(67-69)tCa>tTa	p.S23L	PIGT_ENST00000543458.2_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000279036.6_Silent_p.F144F|PIGT_ENST00000372689.5_Silent_p.F144F|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000279035.9_Intron			Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	0					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CTCTCAACTTCATCGACTCCA	0.512000													54	74					0	0	0.003610	0	0
TMEM63C	57156	broad.mit.edu	37	14	77719649	77719649	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:77719649C>T	ENST00000298351.4	+	23	2294	c.2148_splice	c.e23-1	p.P717_splice		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	717						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTGCTGCAGCCCGAGGAGGAG	0.622000													6	3					0	0	0.001168	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189903	58189903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:58189903C>T	ENST00000318203.5	+	5	1629	c.932C>T	c.(931-933)tCa>tTa	p.S311L		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	311					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCCAAAAATCATACAAATGT	0.473000													21	38					0	0	0.002299	0	0
NLRP14	338323	broad.mit.edu	37	11	7059824	7059824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7059824G>A	ENST00000299481.4	+	2	353	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	3	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAAGATGGCAGATTCATCATC	0.358000													34	69					0	0	0.004289	0	0
UGT1A3	54659	broad.mit.edu	37	2	234637957	234637957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:234637957C>T	ENST00000482026.1	+	1	204	c.185C>T	c.(184-186)aCc>aTc	p.T62I	UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GTGGTCCTCACCCCAGAGGTG	0.557000													21	67					0	0	0.001523	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447545	74447545	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:74447545G>A	ENST00000339953.5	-	4	607	c.486C>T	c.(484-486)ggC>ggT	p.G162G		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	162	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCGCCCACAGCCCAGCTGGC	0.607000													16	98					0	0	0.007413	0	0
KMT2A	4297	broad.mit.edu	37	11	118366446	118366446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:118366446C>T	ENST00000534358.1	+	19	5418	c.5395C>T	c.(5395-5397)Cct>Tct	p.P1799S	KMT2A_ENST00000354520.4_Missense_Mutation_p.P1758S|KMT2A_ENST00000389506.5_Missense_Mutation_p.P1796S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGTGCTTCCACCTTCACTTGA	0.408000													35	25					0	0	0.004289	0	0
DCD	117159	broad.mit.edu	37	12	55039462	55039462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:55039462C>T	ENST00000456047.2	-	3	316	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DCD_ENST00000293371.6_Missense_Mutation_p.E43K			P81605	DCD_HUMAN	dermcidin	43					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	p.E43K(1)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CCTGCATTTTCCTTTTGAGCT	0.517000													40	77					0	0	0.003610	0	0
ATP10B	23120	broad.mit.edu	37	5	159996682	159996682	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:159996682G>A	ENST00000327245.5	-	25	4605	c.3759C>T	c.(3757-3759)ttC>ttT	p.F1253F		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1253					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGACTCCGTGGAAAATGGTCT	0.468000													7	39					0	0	0.001984	0	0
CFTR	1080	broad.mit.edu	37	7	117246732	117246732	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:117246732G>A	ENST00000003084.6	+	18	3045	c.2913G>A	c.(2911-2913)ggG>ggA	p.G971G	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Silent_p.G910G	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	971	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTATAGGTGGGATTCTTAATA	0.303000									Cystic Fibrosis				59	111					0	0	0.003610	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218220	244218220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:244218220C>T	ENST00000358704.4	+	2	1293	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		CTTCATGTGCCCCCTGTGCAA	0.657000													12	25					0	0	0.001368	0	0
CSMD2	114784	broad.mit.edu	37	1	34258122	34258122	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34258122G>A	ENST00000373381.4	-	11	1628	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	CSMD2_ENST00000338325.1_Silent_p.I92I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	444	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGCGAGCTTGATCACCTAGG	0.537000													17	29					0	0	0.004007	0	0
ABCB1	5243	broad.mit.edu	37	7	87175289	87175289	+	Missense_Mutation	SNP	G	G	A	rs28381914		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:87175289G>A	ENST00000265724.3	-	16	2194	c.1777C>T	c.(1777-1779)Cgt>Tgt	p.R593C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R529C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	593	ABC transporter 1.		R -> C (in dbSNP:rs28381914).		G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCAGCATTACGAACTGTAGAC	0.393000													30	55					0	0	0.008361	0	0
DSG3	1830	broad.mit.edu	37	18	29044228	29044228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29044228C>T	ENST00000257189.4	+	9	1237	c.1154C>T	c.(1153-1155)cCt>cTt	p.P385L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	385					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCATTCCGTCCTGCTTCCAAG	0.393000													22	26					0	0	0.001882	0	0
MYH13	8735	broad.mit.edu	37	17	10227386	10227386	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10227386G>A	ENST00000418404.3	-	22	3050	c.2887C>T	c.(2887-2889)Ctg>Ttg	p.L963L	MYH13_ENST00000252172.4_Silent_p.L963L|MYH13_ENST00000570743.1_Silent_p.L963L|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	963					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCAAGGTCAGCTCCAGGTCA	0.463000													27	12					0	0	0.003954	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237445	140237445	+	Silent	SNP	G	G	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140237445G>C	ENST00000307360.5	+	1	1812	c.1812G>C	c.(1810-1812)gcG>gcC	p.A604A	PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATACAACGCGTGGCTGTCGT	0.652000													10	12					0	0	0.008291	0	0
SPIC	121599	broad.mit.edu	37	12	101876674	101876674	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:101876674A>G	ENST00000551346.1	+	5	474	c.315A>G	c.(313-315)ggA>ggG	p.G105G	SPIC_ENST00000299272.5_Silent_p.G105G			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	105						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAAAGGGGGGAAAAGGTACGT	0.393000													34	60					0	0	0.002445	0	0
UNC5D	137970	broad.mit.edu	37	8	35648049	35648049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:35648049G>A	ENST00000287272.2	+	16	2643	c.2623G>A	c.(2623-2625)Gac>Aac	p.D875N	UNC5D_ENST00000453357.2_Missense_Mutation_p.D939N|UNC5D_ENST00000420357.1_Missense_Mutation_p.D877N|UNC5D_ENST00000449677.1_Missense_Mutation_p.D520N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D949N|UNC5D_ENST00000404895.2_Missense_Mutation_p.D944N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	944	Death.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGATGAAGCCGACTTCAACTA	0.498000													8	48					0	0	0.003080	0	0
TP53BP1	7158	broad.mit.edu	37	15	43705379	43705379	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:43705379T>G	ENST00000263801.3	-	24	5480	c.5228A>C	c.(5227-5229)gAc>gCc	p.D1743A	TP53BP1_ENST00000382044.4_Missense_Mutation_p.D1748A|TP53BP1_ENST00000382039.3_Missense_Mutation_p.D1698A|TP53BP1_ENST00000450115.2_Missense_Mutation_p.D1746A	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1743	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGCCAACTTGTCACTGGTTGT	0.552000								Other conserved DNA damage response genes					20	45					0	0	0.003330	0	0
TNRC18	84629	broad.mit.edu	37	7	5413788	5413788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:5413788G>A	ENST00000399537.4	-	10	3475	c.3127C>T	c.(3127-3129)Ccg>Tcg	p.P1043S	TNRC18_ENST00000430969.1_Missense_Mutation_p.P1043S			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1043	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTGATACCCGGGGTGGGCGGT	0.682000													3	13					0	0	0.004672	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242225	5242225	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:5242225G>A	ENST00000274181.7	+	17	2721	c.2583G>A	c.(2581-2583)ggG>ggA	p.G861G		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	861	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTCGCTTGGGGACCGAGAAGC	0.562000													34	54					0	0	0.004878	0	0
OR9K2	441639	broad.mit.edu	37	12	55523706	55523706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:55523706C>T	ENST00000305377.5	+	1	242	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L52I(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CCACATTCTCCTCTTCCTGCT	0.453000													46	102					0	0	0.003610	0	0
CD93	22918	broad.mit.edu	37	20	23064978	23064978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:23064978C>T	ENST00000246006.4	-	1	1999	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	618					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCTTCTTCTCCTTCTTCTCC	0.597000													57	110					0	0	0.003610	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772607	140772607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140772607C>T	ENST00000398604.2	+	1	227	c.227C>T	c.(226-228)gCt>gTt	p.A76V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTCTTTGCTCTGAACCCG	0.602000													22	25					0	0	0.003330	0	0
DNAH3	55567	broad.mit.edu	37	16	20974677	20974677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:20974677C>T	ENST00000261383.3	-	53	10528	c.10529G>A	c.(10528-10530)gGa>gAa	p.G3510E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3510	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTGTAGGATCCCTGGAGATC	0.507000													28	22					0	0	0.005443	0	0
ACOX3	8310	broad.mit.edu	37	4	8394118	8394118	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:8394118G>A	ENST00000356406.5	-	11	1319	c.1242C>T	c.(1240-1242)acC>acT	p.T414T	ACOX3_ENST00000413009.2_Silent_p.T414T|ACOX3_ENST00000503233.1_Silent_p.T414T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	414					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTTGCTGGGTGGTCCACGAGG	0.582000													104	157					0	0	0.003610	0	0
NBPF8	728841	broad.mit.edu	37	1	144220790	144220790	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:144220790C>T	ENST00000369373.5	+	2	57	c.57C>T	c.(55-57)ctC>ctT	p.L19L						neuroblastoma breakpoint family, member 8																		TTTCCAGGCTCAGCAGGGAGC	0.448000													19	221					0	0	0.001882	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634843	70634843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:70634843C>T	ENST00000381269.2	-	2	1050	c.297G>A	c.(295-297)atG>atA	p.M99I	SLC8A3_ENST00000528359.1_Missense_Mutation_p.M99I|SLC8A3_ENST00000357887.3_Missense_Mutation_p.M99I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.M99I|SLC8A3_ENST00000356921.2_Missense_Mutation_p.M99I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	99					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAATAGATGCCATGAAGCGGT	0.473000													12	30					0	0	0.000978	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23011132	23011132	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:23011132G>A	ENST00000390304.2	+	0	233																											CTGTGCTGGTGATTTATAAAG	0.587000													23	39					0	0	0.003954	0	0
CNDP1	84735	broad.mit.edu	37	18	72234659	72234659	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:72234659C>T	ENST00000582365.1	+	5	684	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CNDP1_ENST00000358821.3_Silent_p.F249F			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	249					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		ACAGCTACTTCATGGTGGAGG	0.502000													9	47					0	0	0.006214	0	0
PRX	57716	broad.mit.edu	37	19	40901190	40901190	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:40901190G>A	ENST00000324001.7	-	7	3339	c.3069C>T	c.(3067-3069)ctC>ctT	p.L1023L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1023					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAAACTTGGGGAGAGCAAACC	0.637000													33	52					0	0	0.003755	0	0
OR2D2	120776	broad.mit.edu	37	11	6912877	6912877	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6912877G>A	ENST00000299459.2	-	1	953	c.855C>T	c.(853-855)ccC>ccT	p.P285P		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATAGATGAGGGGATTAAGCA	0.443000													29	45					0	0	0.008361	0	0
ABCF2	10061	broad.mit.edu	37	7	150912052	150912052	+	Silent	SNP	G	G	A	rs144967351	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150912052G>A	ENST00000287844.2	-	14	1756	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	ABCF2_ENST00000222388.2_Silent_p.I549I	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	549	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGATGGTCTCGATATCCAGGT	0.572000													20	37					0	0	0.001523	0	0
LMAN2	10960	broad.mit.edu	37	5	176764494	176764494	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:176764494T>G	ENST00000303127.7	-	5	749	c.545A>C	c.(544-546)aAc>aCc	p.N182T	LMAN2_ENST00000506310.1_Intron|LMAN2_ENST00000515209.1_Missense_Mutation_p.N182T	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	182	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGCCATTGTTCACCATCAC	0.642000													5	31					0	0	0.000602	0	0
C2orf78	388960	broad.mit.edu	37	2	74040936	74040936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:74040936G>A	ENST00000409561.1	+	2	551	c.430G>A	c.(430-432)Gac>Aac	p.D144N		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	144										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CTCACTCAGGGACTTCACTGT	0.448000													12	22					0	0	0.001368	0	0
ABCC1	4363	broad.mit.edu	37	16	16228264	16228264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:16228264C>T	ENST00000399408.2	+	29	4229	c.4054C>T	c.(4054-4056)Cgg>Tgg	p.R1352W	ABCC1_ENST00000349029.5_Missense_Mutation_p.R1227W|ABCC1_ENST00000345148.5_Missense_Mutation_p.R1342W|ABCC1_ENST00000351154.5_Missense_Mutation_p.R1283W|ABCC1_ENST00000399410.3_Missense_Mutation_p.R1342W|ABCC1_ENST00000346370.5_Missense_Mutation_p.R1286W			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1342	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1342W(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGCTTATTTCGGATCAACGA	0.597000													32	55					0	0	0.001786	0	0
CDKAL1	54901	broad.mit.edu	37	6	21108659	21108659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:21108659C>T	ENST00000274695.4	+	13	1431	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	CDKAL1_ENST00000378624.4_Intron|CDKAL1_ENST00000378610.1_Missense_Mutation_p.R422W	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	422					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AGATCTTTCTCGGGTGTTTCA	0.294000													139	237					0	0	0.003610	0	0
CLGN	1047	broad.mit.edu	37	4	141317292	141317292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:141317292C>T	ENST00000325617.5	-	9	1392	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	CLGN_ENST00000414773.1_Missense_Mutation_p.E318K|CLGN_ENST00000537281.1_Missense_Mutation_p.E318K	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	318					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AATTTTGGTTCATCATCAAGC	0.348000													47	93					0	0	0.003610	0	0
ZNF479	90827	broad.mit.edu	37	7	57194384	57194384	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:57194384C>T	ENST00000331162.4	-	3	351	c.81G>A	c.(79-81)ctG>ctA	p.L27L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCCATTCCTCCAGAGAGAATT	0.433000													21	36					0	0	0.002299	0	0
OR11H6	122748	broad.mit.edu	37	14	20692516	20692516	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:20692516C>T	ENST00000315519.2	+	1	726	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CTGAGCTTATCTGTTACACCT	0.502000													19	24					0	0	0.003954	0	0
CATSPERD	257062	broad.mit.edu	37	19	5729904	5729904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:5729904G>A	ENST00000381624.3	+	4	286	c.225G>A	c.(223-225)atG>atA	p.M75I	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	75						integral to membrane											TTTTCACAATGGATAACTTTG	0.303000													36	50					0	0	0.005524	0	0
NRG2	9542	broad.mit.edu	37	5	139251314	139251314	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:139251314G>A	ENST00000394770.1	-	4	1328	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	NRG2_ENST00000289422.7_Silent_p.L368L|NRG2_ENST00000358522.3_Silent_p.L368L|NRG2_ENST00000289409.4_Silent_p.L368L|NRG2_ENST00000545385.1_Silent_p.L368L|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000340391.3_Silent_p.L165L|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000361474.1_Silent_p.L368L			O14511	NRG2_HUMAN	neuregulin 2	368	EGF-like.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGCAGGAGAGCTGGTTGA	0.567000													24	66					0	0	0.003954	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800779	185800779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:185800779C>T	ENST00000302277.6	+	4	1250	c.656C>T	c.(655-657)cCa>cTa	p.P219L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	219						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTGCATTTCCAAAGAAAGCG	0.418000													25	34					0	0	0.005443	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069569	114069569	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:114069569G>A	ENST00000462705.1	-	11	1958	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	ZBTB20_ENST00000393785.2_Silent_p.S379S|ZBTB20_ENST00000481632.1_Silent_p.S379S|ZBTB20_ENST00000357258.3_Silent_p.S379S|ZBTB20_ENST00000471418.1_Silent_p.S379S|ZBTB20_ENST00000464560.1_Silent_p.S379S|ZBTB20_ENST00000474710.1_Silent_p.S452S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGCTCTTGTCGGAGCTGTTGC	0.542000													4	46					0	0	0.000602	0	0
OR5K4	403278	broad.mit.edu	37	3	98073291	98073291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:98073291G>A	ENST00000354924.2	+	1	594	c.594G>A	c.(592-594)atG>atA	p.M198I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						ATGAACTAATGATATATATCT	0.328000													22	24					0	0	0.001523	0	0
CLDN6	9074	broad.mit.edu	37	16	3065567	3065567	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:3065567C>T	ENST00000396925.1	-	3	884	c.456G>A	c.(454-456)gtG>gtA	p.V152V	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.V152V			P56747	CLD6_HUMAN	claudin 6	152					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCCTCAGCCACCAGGGGGT	0.622000													7	10					0	0	0.001984	0	0
ABHD17A	81926	broad.mit.edu	37	19	1881283	1881283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:1881283G>A	ENST00000292577.7	-	2	716	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	ABHD17A_ENST00000250974.9_Missense_Mutation_p.R95C|ABHD17A_ENST00000590661.1_Missense_Mutation_p.R95C	NM_001130111.1	NP_001123583.1			abhydrolase domain containing 17A																		CGGTTGCCGCGGGCGCTCTTG	0.682000													19	30					0	0	0.002836	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529993	140529993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140529993G>A	ENST00000231136.1	+	1	155	c.155G>A	c.(154-156)gGa>gAa	p.G52E	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		52	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGGACCTGGGACTGAGGGTG	0.512000													41	53					0	0	0.002222	0	0
MMRN1	22915	broad.mit.edu	37	4	90857605	90857605	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:90857605A>C	ENST00000394980.1	+	7	3093	c.2774A>C	c.(2773-2775)cAc>cCc	p.H925P	MMRN1_ENST00000264790.2_Missense_Mutation_p.H925P|MMRN1_ENST00000508372.1_Missense_Mutation_p.H667P|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	925					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)		AAAACTCTCCACGAAGTTTTA	0.373000													15	31					0	0	0.003163	0	0
NMUR2	56923	broad.mit.edu	37	5	151777675	151777675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:151777675C>T	ENST00000255262.3	-	2	922	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	253					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCATTCCCTTCATCTGCCTCA	0.363000													22	37					0	0	0.002780	0	0
NOVA1	4857	broad.mit.edu	37	14	26917425	26917425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:26917425C>T	ENST00000539517.2	-	5	1581	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	NOVA1_ENST00000465357.2_Missense_Mutation_p.D398N|NOVA1_ENST00000267422.7_Missense_Mutation_p.D300N	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	425					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCAACTACATCCTTGGATCCA	0.468000													19	46					0	0	0.001523	0	0
UNC13C	440279	broad.mit.edu	37	15	54305335	54305335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:54305335G>A	ENST00000545554.1	+	1	235	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E79K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E79K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	79					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCCACTGAGGAAGACGAGGC	0.423000													38	35					0	0	0.006230	0	0
PAFAH1B2	5049	broad.mit.edu	37	11	117034544	117034544	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:117034544G>C	ENST00000527958.1	+	5	506	c.347G>C	c.(346-348)gGt>gCt	p.G116A	PAFAH1B2_ENST00000529887.2_Missense_Mutation_p.G116A|PAFAH1B2_ENST00000419197.2_Missense_Mutation_p.G116A|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000530272.1_Missense_Mutation_p.G116A	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	116					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		GAAGTAGCAGGTGGGATCGAG	0.428000			T	IGH@	MLCLS								37	33					0	0	0.003271	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114448322	114448322	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:114448322G>A	ENST00000369563.3	+	1	560	c.114G>A	c.(112-114)gtG>gtA	p.V38V	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	38					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCACACCGTGGGCCTGTCTA	0.627000								Other identified genes with known or suspected DNA repair function			OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	23	39					0	0	0.003330	0	0
CCDC108	255101	broad.mit.edu	37	2	219895915	219895915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219895915G>A	ENST00000341552.5	-	8	1011	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F	CCDC108_ENST00000410037.1_Missense_Mutation_p.L245F|CCDC108_ENST00000441968.1_Missense_Mutation_p.L310F|CCDC108_ENST00000453220.1_Missense_Mutation_p.L310F|CCDC108_ENST00000409865.3_Missense_Mutation_p.L299F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	310						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGGCTGTAAGGGGCTGAAAG	0.652000													5	21					0	0	0.001168	0	0
PNMAL1	55228	broad.mit.edu	37	19	46974164	46974164	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:46974164C>A	ENST00000313683.10	-	2	434	c.129G>T	c.(127-129)ttG>ttT	p.L43F	PNMAL1_ENST00000438932.2_Missense_Mutation_p.L43F|PNMAL1_ENST00000602246.1_Missense_Mutation_p.L43F	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	43										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ggaccccattcaaggtctcct	0.542000													27	45					3.01185e-09	3.3446e-09	0.003954	1	0
DENND4B	9909	broad.mit.edu	37	1	153906756	153906756	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:153906756G>A	ENST00000361217.4	-	19	3214	c.2796C>T	c.(2794-2796)tcC>tcT	p.S932S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	932										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCGAGTAGGGGAAGGGCGCT	0.587000													5	9					0	0	0.001168	0	0
KIF5A	3798	broad.mit.edu	37	12	57971793	57971793	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57971793C>T	ENST00000455537.2	+	22	2637	c.2361_splice	c.e22-1	p.A788_splice	KIF5A_ENST00000286452.5_Splice_Site_p.A699_splice	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	788					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TCTTTCCAGGCCCGGGAACTC	0.483000													22	57					0	0	0.002780	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829824	160829824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:160829824G>A	ENST00000392145.1	+	4	755	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SLC22A3_ENST00000275300.2_Missense_Mutation_p.G243E			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	243						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		AGGATTGTGGGAATCGTGATT	0.423000													16	29					0	0	0.004990	0	0
GPR98	84059	broad.mit.edu	37	5	90055394	90055394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:90055394G>A	ENST00000405460.2	+	58	12205	c.12109G>A	c.(12109-12111)Gaa>Aaa	p.E4037K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4037					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTTGGATTTGAAGAAAAGAC	0.378000													7	24					0	0	0.004482	0	0
C21orf58	54058	broad.mit.edu	37	21	47742623	47742623	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:47742623G>A	ENST00000291691.7	-	1	1166	c.30C>T	c.(28-30)tcC>tcT	p.S10S	C21orf58_ENST00000397685.4_5'UTR|C21orf58_ENST00000397680.1_Intron|C21orf58_ENST00000397682.3_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	10										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCTTCCTGAGggaggttgcag	0.567000													12	4					0	0	0.000978	0	0
THSD7B	80731	broad.mit.edu	37	2	137748477	137748477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:137748477G>A	ENST00000413152.2	+	1	16	c.16G>A	c.(16-18)Gat>Aat	p.D6N	THSD7B_ENST00000409968.1_Intron|THSD7B_ENST00000272643.3_Intron	NM_001080427.1	NP_001073896.1			thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TAACACAGCAGATGAGGTGGT	0.393000													5	6					0	0	0.001984	0	0
ZNF70	7621	broad.mit.edu	37	22	24087233	24087233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:24087233C>T	ENST00000341976.3	-	2	555	c.95G>A	c.(94-96)gGg>gAg	p.G32E		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	32						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AAAAGGGTCCCCCAGGTCCTC	0.493000													47	69					0	0	0.003610	0	0
BLNK	29760	broad.mit.edu	37	10	97983604	97983604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:97983604G>A	ENST00000224337.5	-	6	644	c.503C>T	c.(502-504)cCc>cTc	p.P168L	BLNK_ENST00000371176.2_Missense_Mutation_p.P168L|BLNK_ENST00000413476.2_Missense_Mutation_p.P168L|BLNK_ENST00000427367.2_Missense_Mutation_p.P168L	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	168	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GAGGCCTTTGGGTTTGGGTGG	0.592000													17	83					0	0	0.006122	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95108138	95108138	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:95108138G>A	ENST00000469935.1	+	0	743					NR_015340.1																						ACACATTGACGAATATACAGA	0.622000													54	126					0	0	0.003610	0	0
COL4A1	1282	broad.mit.edu	37	13	110829287	110829287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:110829287C>T	ENST00000375820.4	-	34	2935	c.2814G>A	c.(2812-2814)atG>atA	p.M938I		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	938	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCACCTTATCCATGGAGCCAG	0.587000													40	59					0	0	0.008740	0	0
PKD1	5310	broad.mit.edu	37	16	2162886	2162886	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2162886G>A	ENST00000262304.4	-	13	3272	c.3064C>T	c.(3064-3066)Ctg>Ttg	p.L1022L	PKD1_ENST00000423118.1_Silent_p.L1022L|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1022					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAGACCTGCAGACCCTGCATC	0.642000													11	31					0	0	0.000978	0	0
LIN28B	389421	broad.mit.edu	37	6	105526438	105526438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:105526438G>A	ENST00000345080.4	+	4	736	c.533G>A	c.(532-534)gGa>gAa	p.G178E		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	178					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AGTTCTCAGGGAAGACAGGAA	0.547000													13	40					0	0	0.001368	0	0
LILRB1	10859	broad.mit.edu	37	19	55146718	55146718	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55146718C>A	ENST00000396331.1	+	13	1925	c.1568C>A	c.(1567-1569)cCa>cAa	p.P523Q	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.P523Q|LILRB1_ENST00000427581.2_Missense_Mutation_p.P573Q|LILRB1_ENST00000418536.2_Missense_Mutation_p.P507Q|LILRB1_ENST00000396327.3_Missense_Mutation_p.P524Q|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q498K|LILRB1_ENST00000396332.4_Missense_Mutation_p.P523Q|LILRB1_ENST00000324602.7_Missense_Mutation_p.P524Q|LILRB1_ENST00000434867.2_Missense_Mutation_p.P523Q|LILRB1_ENST00000396317.1_Missense_Mutation_p.P507Q|LILRB1_ENST00000396315.1_Missense_Mutation_p.P524Q	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	523					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGTCCAGCCCAGCTGCCGAT	0.602000										HNSCC(37;0.09)			38	68					2.37825e-27	2.66481e-27	0.002522	1	0
ZNF577	84765	broad.mit.edu	37	19	52376906	52376906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52376906C>T	ENST00000301399.5	-	7	702	c.337G>A	c.(337-339)Gga>Aga	p.G113R	ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000451628.2_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTCCCATATCCACCAAATGCA	0.383000													19	43					0	0	0.007413	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719197	50719197	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:50719197C>T	ENST00000449103.1	-	24	4109	c.3969G>A	c.(3967-3969)ctG>ctA	p.L1323L	PLXNB2_ENST00000359337.4_Silent_p.L1323L			O15031	PLXB2_HUMAN	plexin B2	1323					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACTTGCTGTTCAGCAGGTTGG	0.657000													12	18					0	0	0.001368	0	0
ZFR	51663	broad.mit.edu	37	5	32385617	32385617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:32385617C>T	ENST00000265069.8	-	15	2740	c.2638G>A	c.(2638-2640)Gga>Aga	p.G880R		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	880	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTCCAACCTCCTTCCCTCATG	0.373000													33	78					0	0	0.003271	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18769194	18769194	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:18769194C>T	ENST00000268835.2	+	3	331	c.48C>T	c.(46-48)acC>acT	p.T16T	PRPSAP2_ENST00000419071.2_Silent_p.T16T|PRPSAP2_ENST00000536323.1_5'UTR|PRPSAP2_ENST00000542013.1_Silent_p.T16T	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	16					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TGAACATAACCAAAGGTGGTC	0.348000													14	5					0	0	0.001855	0	0
GUCY2C	2984	broad.mit.edu	37	12	14809543	14809543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:14809543C>T	ENST00000261170.3	-	12	1509	c.1373G>A	c.(1372-1374)aGa>aAa	p.R458K		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	458					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ATAATCTTTTCTATATTTTCT	0.368000													39	49					0	0	0.005524	0	0
DTNA	1837	broad.mit.edu	37	18	32398222	32398222	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:32398222G>A	ENST00000283365.9	+	9	1155	c.804G>A	c.(802-804)caG>caA	p.Q268Q	DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269191.6_Silent_p.Q268Q|DTNA_ENST00000597599.1_Silent_p.Q268Q|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000348997.5_Silent_p.Q268Q|DTNA_ENST00000598774.1_Silent_p.Q268Q|DTNA_ENST00000598142.1_Silent_p.Q268Q|DTNA_ENST00000399121.5_Silent_p.Q268Q|DTNA_ENST00000315456.6_Silent_p.Q268Q|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000598334.1_Silent_p.Q268Q|DTNA_ENST00000399113.3_Silent_p.Q268Q|DTNA_ENST00000554864.3_Silent_p.Q268Q|DTNA_ENST00000444659.1_Silent_p.Q268Q|DTNA_ENST00000595022.1_Silent_p.Q268Q|DTNA_ENST00000269190.7_Silent_p.Q268Q	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	268	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGCTCTGTCAGGACTGCTTCT	0.507000													14	50					0	0	0.001855	0	0
NBEA	26960	broad.mit.edu	37	13	35883726	35883726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:35883726G>A	ENST00000400445.3	+	36	6434	c.5900G>A	c.(5899-5901)gGa>gAa	p.G1967E	NBEA_ENST00000379939.2_Missense_Mutation_p.G1964E|NBEA_ENST00000540320.1_Missense_Mutation_p.G1967E|NBEA_ENST00000310336.4_Missense_Mutation_p.G1967E	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1967						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATCAATGAAGGAAGGTAATTA	0.348000													7	11					0	0	0.003080	0	0
POLR2B	5431	broad.mit.edu	37	4	57873037	57873037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:57873037C>T	ENST00000381227.1	+	11	1686	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	POLR2B_ENST00000441246.2_Nonsense_Mutation_p.R418*|POLR2B_ENST00000314595.5_Nonsense_Mutation_p.R425*|POLR2B_ENST00000431623.2_Nonsense_Mutation_p.R350*			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	425					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATTTATTGATCGAGGAAAGGA	0.343000													26	71					0	0	0.005443	0	0
BSDC1	55108	broad.mit.edu	37	1	32846866	32846866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:32846866G>A	ENST00000341071.7	-	5	423	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	BSDC1_ENST00000446293.2_Missense_Mutation_p.R138C|BSDC1_ENST00000526031.1_Missense_Mutation_p.R26C|BSDC1_ENST00000449308.1_Missense_Mutation_p.R121C|BSDC1_ENST00000419121.2_Missense_Mutation_p.R65C|BSDC1_ENST00000455895.2_Missense_Mutation_p.R121C|BSDC1_ENST00000413080.1_Missense_Mutation_p.R121C			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	121							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTATAGAGGCGAGCCTGTAAG	0.502000													7	21					0	0	0.003080	0	0
PTPRU	10076	broad.mit.edu	37	1	29585184	29585184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:29585184G>A	ENST00000323874.8	+	3	483	c.373G>A	c.(373-375)Ggg>Agg	p.G125R	PTPRU_ENST00000345512.3_Missense_Mutation_p.G125R|PTPRU_ENST00000460170.2_Missense_Mutation_p.G125R|PTPRU_ENST00000428026.2_Missense_Mutation_p.G125R|PTPRU_ENST00000373779.3_Missense_Mutation_p.G125R|PTPRU_ENST00000356870.3_Missense_Mutation_p.G125R			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	125	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCGCGTTAATGGGGGCCCCCT	0.612000													36	112					0	0	0.003271	0	0
ZNF582	147948	broad.mit.edu	37	19	56895388	56895388	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56895388G>A	ENST00000301310.4	-	5	1556	c.1398C>T	c.(1396-1398)acC>acT	p.T466T	ZNF582_ENST00000586929.1_Silent_p.T466T	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GAGGTTGAACGGTAGTTGAAT	0.363000													47	86					0	0	0.003610	0	0
BLM	641	broad.mit.edu	37	15	91292641	91292641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:91292641C>T	ENST00000355112.3	+	3	261	c.143C>T	c.(142-144)tCt>tTt	p.S48F	BLM_ENST00000560509.1_Missense_Mutation_p.S48F	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	48					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AACAATGTATCTGTAACTAAT	0.333000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				149	274					0	0	0.003610	0	0
CBLB	868	broad.mit.edu	37	3	105397331	105397331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:105397331G>A	ENST00000264122.4	-	17	2834	c.2513C>T	c.(2512-2514)cCt>cTt	p.P838L	CBLB_ENST00000407712.1_Missense_Mutation_p.P53L|CBLB_ENST00000394027.3_Missense_Mutation_p.P816L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	838	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGAGCCAGGAGGTTTTGAATG	0.468000			Mis S		AML								26	20					0	0	0.006320	0	0
TCL6	27004	broad.mit.edu	37	14	96131408	96131408	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:96131408G>A	ENST00000467865.1	+	0	1816				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		TGGATGCATGGGGAAGGTGAG	0.567000			T	TRA@	T-ALL								4	17					0	0	0.000602	0	0
RB1CC1	9821	broad.mit.edu	37	8	53555124	53555124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:53555124C>T	ENST00000025008.5	-	18	4647	c.4124G>A	c.(4123-4125)cGa>cAa	p.R1375Q	RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1375Q|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1375Q	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1375					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAAACGAGCTCGATCTTCAGA	0.368000													21	34					0	0	0.008871	0	0
HTR3B	9177	broad.mit.edu	37	11	113816639	113816639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:113816639G>A	ENST00000260191.2	+	9	1363	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	HTR3B_ENST00000537778.1_Missense_Mutation_p.G358E	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	369					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TCGCTGTATGGAGAGCACCTG	0.552000													10	25					0	0	0.006214	0	0
FSCB	84075	broad.mit.edu	37	14	44975965	44975965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:44975965C>T	ENST00000340446.4	-	1	517	c.226G>A	c.(226-228)Gac>Aac	p.D76N		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	76						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACAATGGTGTCTGTCTGGAGA	0.413000													54	103					0	0	0.003610	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20505050	20505050	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:20505050C>T	ENST00000202677.6	-	30	4042	c.3900_splice	c.e30+1	p.R1300_splice		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1300					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTAGACTCACCCTGTAGATAT	0.512000													13	23					0	0	0.001368	0	0
ATP2B1	490	broad.mit.edu	37	12	89992980	89992980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:89992980C>T	ENST00000428670.3	-	20	3721	c.3265G>A	c.(3265-3267)Gat>Aat	p.D1089N	ATP2B1_ENST00000261173.2_Missense_Mutation_p.D1089N|ATP2B1_ENST00000348959.3_Missense_Mutation_p.D1053N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.D1089N|ATP2B1_ENST00000393164.2_Missense_Mutation_p.D832N			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1089					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TCTTCAACATCCTCTGCTAAT	0.438000													26	54					0	0	0.003954	0	0
VIM	7431	broad.mit.edu	37	10	17276783	17276783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:17276783C>T	ENST00000544301.1	+	6	1387	c.974C>T	c.(973-975)tCc>tTc	p.S325F	VIM_ENST00000224237.5_Missense_Mutation_p.S325F|RP11-124N14.3_ENST00000456355.1_RNA	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	325	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGTGCAGTCCCTCACCTGT	0.537000													9	58					0	0	0.006214	0	0
ZNF831	128611	broad.mit.edu	37	20	57766277	57766277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:57766277C>T	ENST00000371030.2	+	1	203	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	68	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACGGTGCCTCCCGGGGGCCTC	0.701000													5	15					0	0	0.000602	0	0
FRMD8	83786	broad.mit.edu	37	11	65168246	65168246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:65168246C>T	ENST00000317568.5	+	9	1142	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	FRMD8_ENST00000355991.5_Missense_Mutation_p.P271S|FRMD8_ENST00000416776.2_Missense_Mutation_p.P293S	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	327	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CCACACCTCCCCCGAGGAGGA	0.637000													25	20					0	0	0.003954	0	0
MACF1	23499	broad.mit.edu	37	1	39910422	39910422	+	Missense_Mutation	SNP	C	C	G	rs680728		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:39910422C>G	ENST00000564288.1	+	80	20297	c.19520C>G	c.(19519-19521)tCt>tGt	p.S6507C	MACF1_ENST00000361689.2_Missense_Mutation_p.S4448C|MACF1_ENST00000289893.4_Missense_Mutation_p.S4950C|MACF1_ENST00000539005.1_Missense_Mutation_p.S4318C|MACF1_ENST00000545844.1_Missense_Mutation_p.S4448C|MACF1_ENST00000372915.3_Missense_Mutation_p.S6406C|MACF1_ENST00000317713.7_Missense_Mutation_p.S4448C|MACF1_ENST00000567887.1_Missense_Mutation_p.S6544C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6517					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)			CGTGACGACTCTGGGTCTGGC	0.458000													26	45					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179484483	179484483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179484483G>A	ENST00000589042.1	-	250	46785	c.46561C>T	c.(46561-46563)Cag>Tag	p.Q15521*	TTN_ENST00000359218.5_Nonsense_Mutation_p.Q6581*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q6648*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q13880*|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q12953*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q6456*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13880	Fibronectin type-III 13.						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)			TTATCACCCTGGACAACAACC	0.403000													76	108					0	0	0.003610	0	0
EVPL	2125	broad.mit.edu	37	17	74015007	74015007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:74015007C>T	ENST00000301607.3	-	11	1525	c.1272G>A	c.(1270-1272)tgG>tgA	p.W424*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.W424*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	424	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCCTGAGTCCCAGTCGCAGA	0.682000													23	29					0	0	0.002096	0	0
MYO3A	53904	broad.mit.edu	37	10	26241046	26241046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:26241046C>T	ENST00000265944.5	+	3	173	c.7C>T	c.(7-9)Cca>Tca	p.P3S	MYO3A_ENST00000376302.1_Missense_Mutation_p.P3S|MYO3A_ENST00000543632.1_Missense_Mutation_p.P3S|MYO3A_ENST00000376301.1_Missense_Mutation_p.P3S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	3					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAGATGTTTCCATTAATTGG	0.353000													17	21					0	0	0.007413	0	0
SDPR	8436	broad.mit.edu	37	2	192701046	192701046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:192701046G>A	ENST00000304141.4	-	2	1210	c.881C>T	c.(880-882)cCc>cTc	p.P294L		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	294						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GAAAGTGAGGGGAGAAACCTT	0.468000													44	121					0	0	0.003610	0	0
MRPL45P2	653479	broad.mit.edu	37	17	45534160	45534160	+	RNA	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:45534160C>G	ENST00000575291.1	-	0	606																											TGGGCCCAACCTAAAAATAAA	0.338000													7	15					0	0	0.001984	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442579	37442579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:37442579G>A	ENST00000374660.1	+	13	1718	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G540E|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G540E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	596						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAATAAATGGAAAATTAGAA	0.323000													13	179					0	0	0.001368	0	0
SYNE3	161176	broad.mit.edu	37	14	95912270	95912270	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:95912270G>A	ENST00000334258.5	-	8	1622	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	SYNE3_ENST00000554873.1_Silent_p.L293L|SYNE3_ENST00000557275.1_Silent_p.L536L|SYNE3_ENST00000553340.1_Silent_p.L536L	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						TCCTCTGCAGGAGGCTGTTAT	0.612000													25	53					0	0	0.003954	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777062	6777062	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:6777062C>T	ENST00000486256.1	+	0	1189					NR_002217.1																						GCAGCACTTCCGTGGATTCTG	0.622000													22	54					0	0	0.002780	0	0
ZNF568	374900	broad.mit.edu	37	19	37441389	37441389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:37441389C>T	ENST00000415168.1	+	5	1518	c.1142C>T	c.(1141-1143)cCc>cTc	p.P381L	ZNF568_ENST00000333987.7_Missense_Mutation_p.P445L|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTGAGAAACCCTATGAATGT	0.408000													37	52					0	0	0.005524	0	0
ASS1	445	broad.mit.edu	37	9	133346888	133346888	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:133346888C>T	ENST00000372394.1	+	9	1064	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Silent_p.L195L|ASS1_ENST00000352480.5_Silent_p.L195L			P00966	ASSY_HUMAN	argininosuccinate synthase 1	195					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGCTGGAATCCTGGAGAACCC	0.582000													19	14					0	0	0.001882	0	0
HBE1	3046	broad.mit.edu	37	11	5290736	5290736	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5290736T>C	ENST00000380237.1	-	4	607	c.263A>G	c.(262-264)aAg>aGg	p.K88R	HBE1_ENST00000292896.2_Missense_Mutation_p.K88R|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	88					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCACTCAGCTTAGCAAAGGC	0.478000													48	71					0	0	0.003610	0	0
CSF1R	1436	broad.mit.edu	37	5	149456941	149456941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:149456941G>A	ENST00000286301.3	-	6	1078	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F	CSF1R_ENST00000543093.1_Missense_Mutation_p.L263F	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	263	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCGAGGTTGAGGGTCAGGACT	0.498000													39	53					0	0	0.002222	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891712	18891712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:18891712G>A	ENST00000317658.3	+	1	668	c.510G>A	c.(508-510)tgG>tgA	p.W170*		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	170					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACGGACTTTGGAAATCTAAAT	0.388000													18	33					0	0	0.007413	0	0
MYO7B	4648	broad.mit.edu	37	2	128331608	128331608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:128331608C>T	ENST00000389524.4	+	7	759	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F	MYO7B_ENST00000428314.1_Missense_Mutation_p.L236F|MYO7B_ENST00000409816.2_Missense_Mutation_p.L236F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	236	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGAGCAATTTCTCCTGGAGAA	0.597000													30	118					0	0	0.008740	0	0
ERBB4	2066	broad.mit.edu	37	2	212248412	212248412	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:212248412G>A	ENST00000342788.4	-	28	4165	c.3855C>T	c.(3853-3855)ctC>ctT	p.L1285L	ERBB4_ENST00000402597.1_Silent_p.L1275L|ERBB4_ENST00000436443.1_Silent_p.L1269L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1285					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGAACTCAGAGAGGTATTCAG	0.502000										TSP Lung(8;0.080)			29	38					0	0	0.008361	0	0
DIO3	1735	broad.mit.edu	37	14	102028734	102028734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:102028734C>T	ENST00000510508.4	+	1	1047	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	DIO3_ENST00000359323.3_Missense_Mutation_p.P275S			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	275					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CGGCGCTCGGCCCCGGAGGGT	0.602000													15	28					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9088356	9088356	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9088356G>A	ENST00000397910.4	-	1	3662	c.3459C>T	c.(3457-3459)atC>atT	p.I1153I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1153	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						ATGAGGACAAGATGCCAAGCC	0.478000													37	65					0	0	0.003271	0	0
SLC3A1	6519	broad.mit.edu	37	2	44508527	44508527	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:44508527T>C	ENST00000260649.6	+	3	688	c.610_splice	c.e3-1	p.G204_splice	SLC3A1_ENST00000409229.3_Splice_Site_p.G204_splice|SLC3A1_ENST00000409387.1_Splice_Site_p.G204_splice|SLC3A1_ENST00000410056.3_Splice_Site_p.G204_splice|SLC3A1_ENST00000409741.1_Splice_Site_p.G204_splice	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	204					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACTCATTAGGTTTAAAATTAA	0.348000													18	16					0	0	0.008871	0	0
WNK4	65266	broad.mit.edu	37	17	40936554	40936554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:40936554C>T	ENST00000246914.5	+	4	1148	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	376	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TACCCGTACTCCGAGTGCCAG	0.592000													10	32					0	0	0.008291	0	0
ST18	9705	broad.mit.edu	37	8	53062531	53062531	+	Missense_Mutation	SNP	C	C	T	rs144486751		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:53062531C>T	ENST00000276480.7	-	16	2496	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	605						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACTTCTATTTCGGCTCCCTGG	0.398000													25	67					0	0	0.003954	0	0
SNX19	399979	broad.mit.edu	37	11	130785160	130785160	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:130785160G>A	ENST00000265909.4	-	1	1244	c.675C>T	c.(673-675)ccC>ccT	p.P225P	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Silent_p.P225P	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	225	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGTGGGGCTTGGGCACCAGCC	0.557000													18	14					0	0	0.007413	0	0
PIANP	196500	broad.mit.edu	37	12	6806600	6806600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:6806600C>T	ENST00000534837.1	-	3	605	c.376G>A	c.(376-378)Gga>Aga	p.G126R	PIANP_ENST00000540656.1_Missense_Mutation_p.G126R|PIANP_ENST00000320591.5_Missense_Mutation_p.G126R	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		TCCAGAAATCCGGGATTGGCA	0.597000													22	43					0	0	0.006320	0	0
EPS15L1	58513	broad.mit.edu	37	19	16496019	16496019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:16496019G>A	ENST00000455140.2	-	21	2234	c.2168C>T	c.(2167-2169)cCc>cTc	p.P723L	EPS15L1_ENST00000594975.1_Missense_Mutation_p.P725L|EPS15L1_ENST00000535753.2_Missense_Mutation_p.P723L|EPS15L1_ENST00000248070.6_Missense_Mutation_p.P723L	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	723	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGTTCCAAAGGGATCTGCAAT	0.527000													51	85					0	0	0.003610	0	0
ZIM2	23619	broad.mit.edu	37	19	57286126	57286126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57286126C>T	ENST00000391708.3	-	12	2056	c.1514G>A	c.(1513-1515)cGa>cAa	p.R505Q	AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R505Q|ZIM2_ENST00000601070.1_Missense_Mutation_p.R505Q|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R505Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.R505Q|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GTATGAGGGTCGGCCGAAACA	0.438000													20	44					0	0	0.008871	0	0
STAM	8027	broad.mit.edu	37	10	17726680	17726680	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:17726680G>A	ENST00000377524.3	+	3	347	c.132G>A	c.(130-132)aaG>aaA	p.K44K	STAM_ENST00000540523.1_Intron	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	44	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TTAGACCTAAGGATTGTCTTC	0.373000													16	42					0	0	0.007413	0	0
SEPT11	55752	broad.mit.edu	37	4	77949800	77949800	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:77949800A>G	ENST00000264893.6	+	8	1173	c.972A>G	c.(970-972)gaA>gaG	p.E324E	SEPT11_ENST00000541121.1_Silent_p.E334E|SEPT11_ENST00000505788.1_Silent_p.E324E|SEPT11_ENST00000502584.1_Silent_p.E324E|SEPT11_ENST00000510515.1_Silent_p.E334E|SEPT11_ENST00000512575.1_3'UTR	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	324					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGACATATGAAGCAAAAAGGA	0.348000													38	60					0	0	0.005524	0	0
FOXR1	283150	broad.mit.edu	37	11	118851203	118851203	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:118851203G>A	ENST00000317011.3	+	5	840	c.615G>A	c.(613-615)aaG>aaA	p.K205K		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	205					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TCCATAGAAAGCACTTCCCCT	0.542000													35	27					0	0	0.002836	0	0
CRLF2	64109	broad.mit.edu	37	X	1321287	1321287	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:1321287G>A	ENST00000381567.3	-	4	467	c.468C>T	c.(466-468)ttC>ttT	p.F156F	CRLF2_ENST00000381566.1_Silent_p.F156F|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	156	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACTCGGTGTCGAAGGGGCTCC	0.617000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								22	30					0	0	0.002780	0	0
DSG3	1830	broad.mit.edu	37	18	29044213	29044213	+	Missense_Mutation	SNP	G	G	A	rs146025709		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29044213G>A	ENST00000257189.4	+	9	1222	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	380	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.G380E(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTAAGAGAAGGAATTGCATTC	0.388000													24	28					0	0	0.002780	0	0
SSTR3	6753	broad.mit.edu	37	22	37603034	37603034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:37603034C>T	ENST00000328544.3	-	2	1342	c.809G>A	c.(808-810)tGg>tAg	p.W270*	SSTR3_ENST00000402501.1_Nonsense_Mutation_p.W270*	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	270					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GAAGGGCATCCAGCAGAGCAC	0.677000													19	55					0	0	0.002780	0	0
MYBPC2	4606	broad.mit.edu	37	19	50961874	50961874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:50961874C>T	ENST00000357701.5	+	21	2420	c.2369C>T	c.(2368-2370)cCc>cTc	p.P790L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	790	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AACACCGAGCCCGTGGAGCGC	0.667000													7	22					0	0	0.006214	0	0
TRANK1	9881	broad.mit.edu	37	3	36875022	36875022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:36875022C>T	ENST00000301807.6	-	21	6167	c.4270G>A	c.(4270-4272)Gat>Aat	p.D1424N	TRANK1_ENST00000428977.2_Missense_Mutation_p.D1424N|TRANK1_ENST00000429976.2_Missense_Mutation_p.D1974N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1974					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TAGCAGATATCAAGTGCTTCT	0.542000													12	29					0	0	0.002450	0	0
FAM83E	54854	broad.mit.edu	37	19	49104393	49104393	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:49104393G>A	ENST00000263266.3	-	5	1599	c.1410C>T	c.(1408-1410)ccC>ccT	p.P470P		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	470										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTCCTGCCCGGGGGGCCCAGT	0.647000													12	43					0	0	0.001368	0	0
TMEM117	84216	broad.mit.edu	37	12	44770492	44770492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:44770492C>T	ENST00000266534.3	+	7	1010	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	TMEM117_ENST00000536799.1_Missense_Mutation_p.R191C|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_Intron	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	295						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GGAGGAATATCGTATTCACAT	0.368000													31	43					0	0	0.002096	0	0
ACSM5	54988	broad.mit.edu	37	16	20451131	20451131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:20451131G>A	ENST00000331849.4	+	13	1693	c.1546G>A	c.(1546-1548)Gca>Aca	p.A516T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	516					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGTGGTAAAGGCATTTATAGT	0.448000													8	83					0	0	0.006214	0	0
TDRD10	126668	broad.mit.edu	37	1	154517326	154517326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:154517326G>A	ENST00000368482.4	+	11	1691	c.853G>A	c.(853-855)Gga>Aga	p.G285R	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.G285R	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	285	Tudor.						nucleotide binding|RNA binding	p.G285*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATTGATTTTGGACAGTTGGC	0.552000													18	45					0	0	0.007413	0	0
ADCY1	107	broad.mit.edu	37	7	45750231	45750231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:45750231G>A	ENST00000297323.7	+	19	3059	c.3037G>A	c.(3037-3039)Ggg>Agg	p.G1013R		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1013					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGATAGCACAGGGGTCCAGGG	0.577000													17	22					0	0	0.004990	0	0
OR5AS1	219447	broad.mit.edu	37	11	55797987	55797987	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55797987C>T	ENST00000313555.1	+	1	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTTGGTATTCCTTCTGGTAT	0.328000													6	37					0	0	0.001984	0	0
AOC4P	90586	broad.mit.edu	37	17	41019657	41019657	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:41019657G>A	ENST00000585538.1	+	0	496					NR_002773.1																						CCACCTGCCCGGGAGGCACTG	0.662000													24	23					0	0	0.003954	0	0
CCDC147	159686	broad.mit.edu	37	10	106160609	106160609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:106160609C>T	ENST00000369704.3	+	13	2121	c.1987C>T	c.(1987-1989)Cgc>Tgc	p.R663C		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	663										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CAAGAAGCTTCGCCGGGAAAA	0.478000													17	43					0	0	0.006122	0	0
TRIM11	81559	broad.mit.edu	37	1	228582615	228582615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:228582615G>A	ENST00000493030.2	-	5	4532	c.823C>T	c.(823-825)Cca>Tca	p.P275S	TRIM11_ENST00000284551.6_Missense_Mutation_p.P400S|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR			Q96F44	TRI11_HUMAN	tripartite motif containing 11	400	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CGCCTGGGTGGGTCCCGGAGT	0.597000													24	47					0	0	0.003954	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815257	106815257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:106815257C>T	ENST00000407775.2	+	8	3197	c.2947C>T	c.(2947-2949)Cca>Tca	p.P983S	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P851S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P851S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P714S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	983					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCAGCTTTCTCCATATTATGG	0.388000													8	9					0	0	0.004482	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55048129	55048129	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55048129C>T	ENST00000335056.3	+	5	734	c.696C>T	c.(694-696)ccC>ccT	p.P232P	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		AGGTGGACCCCATGATGAGGC	0.478000											OREG0003665	type=REGULATORY REGION|Gene=BC033195|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	36					0	0	0.006122	0	0
HERC1	8925	broad.mit.edu	37	15	63904509	63904509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:63904509G>A	ENST00000443617.2	-	77	14428	c.14341C>T	c.(14341-14343)Cga>Tga	p.R4781*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4781	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCTGGTAGTCGAGATCTTCCT	0.458000													17	21					0	0	0.004990	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004776	75004776	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:75004776G>A	ENST00000373359.2	-	1	303	c.111C>T	c.(109-111)tcC>tcT	p.S37S		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	37										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGACTAGCATGGAGGTGGGGG	0.582000													33	10					0	0	0.004289	0	0
PRG4	10216	broad.mit.edu	37	1	186276693	186276693	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:186276693G>A	ENST00000445192.2	+	7	1887	c.1842G>A	c.(1840-1842)aaG>aaA	p.K614K	PRG4_ENST00000367486.3_Silent_p.K571K|PRG4_ENST00000367485.4_Silent_p.K521K|PRG4_ENST00000367483.4_Silent_p.K573K|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	614	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCCAAGGAGACTGCAC	0.662000													6	11					0	0	0.006214	0	0
CYP27C1	339761	broad.mit.edu	37	2	127951373	127951373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:127951373G>A	ENST00000335247.7	-	6	920	c.790C>T	c.(790-792)Ccg>Tcg	p.P264S	CYP27C1_ENST00000409327.1_Missense_Mutation_p.P264S	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	264						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ACGCCTTTCGGAATCAGATAC	0.587000													24	30					0	0	0.002299	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526902	35526902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:35526902G>A	ENST00000262878.4	-	14	1748	c.1549C>T	c.(1549-1551)Cat>Tat	p.H517Y		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	517					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AAGCTAACATGATCAATTGGA	0.353000													36	81					0	0	0.006999	0	0
GK2	2712	broad.mit.edu	37	4	80328028	80328028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:80328028G>A	ENST00000358842.3	-	1	1344	c.1327C>T	c.(1327-1329)Cat>Tat	p.H443Y		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	443					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACTGGAATATGAAGAATATCT	0.468000													41	55					0	0	0.007835	0	0
RBM12	10137	broad.mit.edu	37	20	34242055	34242055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:34242055G>A	ENST00000374114.3	-	3	1453	c.1190C>T	c.(1189-1191)cCt>cTt	p.P397L	RBM12_ENST00000374104.3_Missense_Mutation_p.P397L|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P397L|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	397						nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTGTCCAGAAGGTCCCATATT	0.483000											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	45	85					0	0	0.002222	0	0
CAPSL	133690	broad.mit.edu	37	5	35910596	35910596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:35910596C>T	ENST00000397367.2	-	3	313	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CAPSL_ENST00000397366.1_Missense_Mutation_p.E63K|CAPSL_ENST00000514524.1_Missense_Mutation_p.E63K	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	63	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTCATAAATTCTTTAAAATCA	0.323000													19	51					0	0	0.001882	0	0
CYP27C1	339761	broad.mit.edu	37	2	127951372	127951372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:127951372G>A	ENST00000335247.7	-	6	921	c.791C>T	c.(790-792)cCg>cTg	p.P264L	CYP27C1_ENST00000409327.1_Missense_Mutation_p.P264L	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	264						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CACGCCTTTCGGAATCAGATA	0.587000													24	31					0	0	0.002299	0	0
EFEMP2	30008	broad.mit.edu	37	11	65637595	65637595	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:65637595C>G	ENST00000307998.6	-	6	834	c.604G>C	c.(604-606)Gtt>Ctt	p.V202L	EFEMP2_ENST00000528176.1_Missense_Mutation_p.V202L	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	202	EGF-like 3; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCCTCACCAACACAGGAGCGG	0.682000													15	32					0	0	0.002450	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21069058	21069058	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:21069058A>C	ENST00000381545.3	+	16	2205	c.1986A>C	c.(1984-1986)gaA>gaC	p.E662D	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E662D|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	662					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CGGACAATGAAAGAAAAGTAA	0.313000													14	28					0	0	0.003163	0	0
PRAMEF19	645414	broad.mit.edu	37	1	13695885	13695885	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:13695885C>T	ENST00000540591.1	-	3	1126	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G	PRAMEF19_ENST00000376101.2_Silent_p.G291G	NM_001099790.1	NP_001093260.2			PRAME family member 19											lung(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGTACCCAATCCCACAGTCCA	0.552000													145	491					0	0	0.003610	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103359106	103359106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:103359106C>T	ENST00000537356.2	+	1	304	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	102							nucleic acid binding|zinc ion binding										GCGTTTGCTTCAGGCGGCCAA	0.502000													18	10					0	0	0.006122	0	0
DIAPH1	1729	broad.mit.edu	37	5	140896446	140896446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140896446G>A	ENST00000253811.6	-	28	3934	c.3794C>T	c.(3793-3795)gCc>gTc	p.A1265V	DIAPH1_ENST00000389054.3_Missense_Mutation_p.A1261V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A1256V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A1240V|DIAPH1_ENST00000398557.4_Missense_Mutation_p.A1264V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A1255V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A1252V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A1207V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1264					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACTCCTTGGCTTCCTCAAG	0.577000													20	28					0	0	0.002299	0	0
HECW1	23072	broad.mit.edu	37	7	43580801	43580801	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:43580801C>T	ENST00000395891.1	+	25	4664	c.4059C>T	c.(4057-4059)atC>atT	p.I1353I	HECW1_ENST00000453890.1_Silent_p.I1319I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1353	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGCTCTGATCCATCAGTACC	0.478000													32	73					0	0	0.004878	0	0
GALNT7	51809	broad.mit.edu	37	4	174225180	174225180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:174225180C>T	ENST00000265000.4	+	8	1383	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	434	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ATTATTTGTTCCTTGTTCTCG	0.383000													40	78					0	0	0.006999	0	0
MMRN1	22915	broad.mit.edu	37	4	90816609	90816609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:90816609G>A	ENST00000394980.1	+	2	806	c.487G>A	c.(487-489)Gga>Aga	p.G163R	MMRN1_ENST00000264790.2_Missense_Mutation_p.G163R|MMRN1_ENST00000394981.1_Missense_Mutation_p.G129R			Q13201	MMRN1_HUMAN	multimerin 1	163					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)		tggaggcactggaggcattgg	0.502000													22	46					0	0	0.002299	0	0
CREB5	9586	broad.mit.edu	37	7	28858881	28858881	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:28858881G>A	ENST00000357727.2	+	11	1902	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	CREB5_ENST00000396298.2_Silent_p.L365L|CREB5_ENST00000409603.1_Silent_p.L471L|CREB5_ENST00000396299.2_Silent_p.L471L|CREB5_ENST00000396300.2_Silent_p.L497L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	504					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GAACAGACCTGAATCCGATTC	0.473000													183	281					0	0	0.003610	0	0
APPL2	55198	broad.mit.edu	37	12	105600949	105600949	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:105600949G>C	ENST00000258530.3	-	8	736	c.511C>G	c.(511-513)Cgg>Ggg	p.R171G	APPL2_ENST00000539978.2_Missense_Mutation_p.R128G|APPL2_ENST00000551662.1_Missense_Mutation_p.R177G|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	171	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGCTTCCGCCGGGCCGCGGCC	0.517000													25	46					0	0	0.005443	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417886	150417886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150417886G>A	ENST00000307194.5	+	3	934	c.794G>A	c.(793-795)tGg>tAg	p.W265*		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCGGCTGTGGAAGTGGCTG	0.746000													5	11					0	0	0.000602	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956467	143956467	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:143956467C>A	ENST00000292427.4	-	8	1336	c.1304G>T	c.(1303-1305)gGc>gTc	p.G435V	CYP11B1_ENST00000377675.3_Missense_Mutation_p.G506V|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	435					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GAAGTTCCTGCCGGAGCCCCT	0.637000									Familial Hyperaldosteronism type I				67	59					3.94896e-32	4.43011e-32	0.003610	1	0
FMO3	2328	broad.mit.edu	37	1	171079947	171079947	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:171079947C>T	ENST00000367755.4	+	6	747	c.636C>T	c.(634-636)atC>atT	p.I212I	FMO3_ENST00000538429.1_Silent_p.I149I|FMO3_ENST00000542847.1_Silent_p.I192I|FMO3_ENST00000392085.2_Silent_p.I212I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	212					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGTCATGATCAGTTCCAGAA	0.468000													27	110					0	0	0.006320	0	0
EPHA1	2041	broad.mit.edu	37	7	143097142	143097142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143097142G>A	ENST00000275815.3	-	4	523	c.437C>T	c.(436-438)aCc>aTc	p.T146I		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	146						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGCCACCGTGGTTACCTGGGT	0.542000													17	26					0	0	0.007413	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405782	106405782	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:106405782C>T	ENST00000390593.2	-	0	243																											CAAGGCCTCTCGATGGGGACT	0.517000													31	74					0	0	0.002096	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806209	97806209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:97806209C>T	ENST00000358642.2	+	1	193	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						GTACTTATTCCTTGGTGGTTT	0.433000													6	153					0	0	0.001984	0	0
SLC4A3	6508	broad.mit.edu	37	2	220498006	220498006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:220498006G>A	ENST00000358055.3	+	10	1800	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	SLC4A3_ENST00000373760.2_Missense_Mutation_p.D430N|SLC4A3_ENST00000273063.6_Missense_Mutation_p.D457N|SLC4A3_ENST00000317151.3_Missense_Mutation_p.D430N|SLC4A3_ENST00000373762.3_Missense_Mutation_p.D457N			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	430					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.D457N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATCCCAACGATGACAAGGA	0.582000													17	61					0	0	0.001523	0	0
WDR7	23335	broad.mit.edu	37	18	54339790	54339790	+	Missense_Mutation	SNP	G	G	A	rs143281590		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:54339790G>A	ENST00000254442.3	+	2	255	c.44G>A	c.(43-45)cGa>cAa	p.R15Q	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R15Q	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	15										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CTTTGGGGTCGAAAAGCGCCC	0.413000													21	21					0	0	0.005443	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526549	173526549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:173526549C>T	ENST00000367714.3	-	10	1567	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	SLC9C2_ENST00000536496.1_Missense_Mutation_p.G280E|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	382					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTAAAAACTCCTTTAATTCC	0.363000													71	114					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168101571	168101571	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:168101571C>T	ENST00000409195.1	+	9	3758	c.3669C>T	c.(3667-3669)atC>atT	p.I1223I	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.I1001I|XIRP2_ENST00000295237.9_Silent_p.I1223I|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1048					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAAAAGATCAAAACCTTAA	0.318000													14	18					0	0	0.002450	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187934	37187934	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:37187934C>T	ENST00000425901.2	+	0	1776					NR_033753.2																						CCTTTTCCAACCATGCAGAAG	0.488000													8	26					0	0	0.003080	0	0
NLRP7	199713	broad.mit.edu	37	19	55447713	55447713	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55447713G>T	ENST00000588756.1	-	8	2702	c.2216C>A	c.(2215-2217)gCa>gAa	p.A739E	NLRP7_ENST00000328092.5_Missense_Mutation_p.A711E|NLRP7_ENST00000592784.1_Missense_Mutation_p.A739E|NLRP7_ENST00000590030.1_Missense_Mutation_p.A739E|NLRP7_ENST00000448121.2_Missense_Mutation_p.A711E|NLRP7_ENST00000446217.1_Missense_Mutation_p.A767E|NLRP7_ENST00000340844.2_Missense_Mutation_p.A739E			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	739							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GATGTGCCCTGCCAGGGTCAG	0.537000													33	43					1.99505e-19	2.23142e-19	0.002445	1	0
DNAH7	56171	broad.mit.edu	37	2	196822162	196822162	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:196822162C>T	ENST00000312428.6	-	19	3001	c.2901G>A	c.(2899-2901)gaG>gaA	p.E967E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	967	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAGCTTGCCCTCCCATTCTC	0.453000													4	16					0	0	0.000602	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	140666	140666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140666C>T	ENST00000283426.6	+	1	294	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	82					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGGAGATCTCGGTCCTGGGA	0.672000													3	7					0	0	0.004672	0	0
SALL3	27164	broad.mit.edu	37	18	76752328	76752328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:76752328G>A	ENST00000575389.2	+	2	337	c.337G>A	c.(337-339)Gag>Aag	p.E113K	SALL3_ENST00000537592.2_Missense_Mutation_p.E113K|SALL3_ENST00000536229.3_5'UTR			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGGCGGCCGAGGAGGCGGG	0.791000													4	1					0	0	0.000602	0	0
SLC6A17	388662	broad.mit.edu	37	1	110737277	110737277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:110737277C>T	ENST00000331565.4	+	9	1861	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	459					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CCGTTCTGGTCCGTCATGTTC	0.612000													18	23					0	0	0.008871	0	0
PSD	5662	broad.mit.edu	37	10	104173563	104173563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:104173563C>T	ENST00000020673.5	-	5	2042	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	PSD_ENST00000406432.1_Missense_Mutation_p.E506K	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	506					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGCTGTCCTCTGAGTGGCAG	0.622000													21	24					0	0	0.002299	0	0
LGI2	55203	broad.mit.edu	37	4	25019647	25019647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:25019647C>T	ENST00000382114.4	-	6	804	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	207	LRRCT.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CTGGTCACGTCATTTAGCTTC	0.408000													52	85					0	0	0.003610	0	0
SLIT2	9353	broad.mit.edu	37	4	20611720	20611720	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:20611720G>A	ENST00000504154.1	+	34	4029	c.3777G>A	c.(3775-3777)ggG>ggA	p.G1259G	SLIT2_ENST00000273739.5_Silent_p.G1272G|SLIT2_ENST00000503823.1_Silent_p.G1251G|SLIT2_ENST00000503837.1_Silent_p.G1255G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1259	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGATGGTGGGAACCCCAAAA	0.438000													24	50					0	0	0.002780	0	0
DNAH3	55567	broad.mit.edu	37	16	21011568	21011568	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:21011568C>T	ENST00000261383.3	-	43	6398	c.6399G>A	c.(6397-6399)ggG>ggA	p.G2133G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2133	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGCTTTCTTCCCTATGGGAG	0.517000													26	32					0	0	0.007291	0	0
HECTD4	283450	broad.mit.edu	37	12	112622317	112622317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:112622317C>T	ENST00000550722.1	-	61	10410	c.10015G>A	c.(10015-10017)Gcc>Acc	p.A3339T	HECTD4_ENST00000430131.2_Missense_Mutation_p.A3063T|HECTD4_ENST00000377560.5_Missense_Mutation_p.A3313T	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.A3313P(1)|p.A3063P(1)									GAGGCGGAGGCGCTGATGCTC	0.662000													7	14					0	0	0.003080	0	0
TBC1D15	64786	broad.mit.edu	37	12	72314523	72314523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:72314523G>A	ENST00000550746.1	+	16	1727	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	TBC1D15_ENST00000393309.3_Missense_Mutation_p.E309K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.E546K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.E538K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	555	Rab-GAP TBC.						protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATGTGGACCGAACTACCATG	0.343000													54	124					0	0	0.003610	0	0
ZNF492	57615	broad.mit.edu	37	19	22847931	22847931	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22847931A>C	ENST00000456783.2	+	4	1704	c.1460A>C	c.(1459-1461)aAc>aCc	p.N487T		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AAAGCCTTTAACAACTCCTCT	0.378000													15	26					0	0	0.004007	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750458	140750458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140750458C>T	ENST00000576222.1	+	1	628	c.497C>T	c.(496-498)tCg>tTg	p.S166L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCAATTCGCTGCAGCAG	0.502000													48	186					0	0	0.003610	0	0
FRAS1	80144	broad.mit.edu	37	4	79308708	79308708	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:79308708C>T	ENST00000264895.6	+	29	4268	c.3828C>T	c.(3826-3828)atC>atT	p.I1276I	FRAS1_ENST00000325942.6_Silent_p.I1276I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1275					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAACCCCTATCTATCAATTCC	0.488000													18	24					0	0	0.007413	0	0
KCNIP1	30820	broad.mit.edu	37	5	170148787	170148787	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:170148787C>T	ENST00000434108.1	+	4	282	c.282C>T	c.(280-282)ccC>ccT	p.P94P	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000411494.1_Intron|KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000520740.1_Intron			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	96	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGGTTCTCCCTGTGTGGAAT	0.517000													31	49					0	0	0.002096	0	0
CCR5	1234	broad.mit.edu	37	3	46414449	46414449	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:46414449C>G	ENST00000343801.4	+	3	413	c.56C>G	c.(55-57)cCc>cGc	p.P19R	CCR5_ENST00000292303.4_Missense_Mutation_p.P19R|CCR5_ENST00000445772.1_Missense_Mutation_p.P19R|RP11-24F11.2_ENST00000451485.1_RNA	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	19					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACATCGGAGCCCTGCCAAAAA	0.423000													83	128					0	0	0.003610	0	0
CC2D2A	57545	broad.mit.edu	37	4	15538613	15538613	+	Silent	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:15538613T>C	ENST00000424120.1	+	15	1932	c.1678T>C	c.(1678-1680)Tta>Cta	p.L560L	CC2D2A_ENST00000503292.1_Silent_p.L560L|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Silent_p.L511L|CC2D2A_ENST00000413206.1_Silent_p.L560L			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	560					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AAGTGAACTGTTAGAAGAGCA	0.408000													16	33					0	0	0.003163	0	0
DST	667	broad.mit.edu	37	6	56495132	56495132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:56495132G>A	ENST00000370754.5	-	30	4092	c.4093C>T	c.(4093-4095)Ctc>Ttc	p.L1365F	DST_ENST00000421834.2_Missense_Mutation_p.L1187F|DST_ENST00000370765.6_Missense_Mutation_p.L861F|DST_ENST00000446842.2_Missense_Mutation_p.L861F|DST_ENST00000312431.6_Missense_Mutation_p.L1187F|DST_ENST00000370788.2_Missense_Mutation_p.L1187F|DST_ENST00000244364.6_Missense_Mutation_p.L861F|DST_ENST00000518935.1_Missense_Mutation_p.L861F|DST_ENST00000361203.3_Missense_Mutation_p.L1187F|DST_ENST00000370769.4_Missense_Mutation_p.L1187F			Q03001	DYST_HUMAN	dystonin	1187					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTTTTACGAGGGCTTCTGCA	0.318000													22	62					0	0	0.001882	0	0
STK33	65975	broad.mit.edu	37	11	8486369	8486369	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:8486369C>T	ENST00000447869.1	-	3	1258	c.339_splice	c.e3-1	p.E114_splice	STK33_ENST00000534493.1_Splice_Site_p.E73_splice|STK33_ENST00000396673.1_Splice_Site_p.E114_splice|STK33_ENST00000396672.1_Splice_Site_p.E114_splice|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000315204.1_Splice_Site_p.E114_splice			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	114						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GTATAGATTTCCTGGAGAAAA	0.353000													30	35					0	0	0.001786	0	0
NLE1	54475	broad.mit.edu	37	17	33464139	33464139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:33464139G>A	ENST00000442241.4	-	7	748	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.R195C|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	237						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CGCTCACAGCGGCCTGCAGTT	0.627000													31	33					0	0	0.001786	0	0
MFSD4	148808	broad.mit.edu	37	1	205548947	205548947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:205548947C>T	ENST00000367147.4	+	2	392	c.299C>T	c.(298-300)cCc>cTc	p.P100L	MFSD4_ENST00000536357.1_Missense_Mutation_p.P100L|MFSD4_ENST00000539267.1_Missense_Mutation_p.P100L	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	100					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCCGTCATCCCCTTCTGCCGC	0.632000													40	68					0	0	0.002522	0	0
OR9A4	130075	broad.mit.edu	37	7	141618750	141618750	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141618750C>T	ENST00000548136.1	+	1	134	c.75C>T	c.(73-75)atC>atT	p.I25I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TACATCATATCCTTTTTGCTA	0.398000													58	144					0	0	0.003610	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050393	42050393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:42050393C>T	ENST00000372584.1	-	3	1090	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	HIVEP3_ENST00000247584.5_Missense_Mutation_p.A26T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A26T|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A26T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	26					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTCTGAATGGCCTCTCCTTTG	0.582000													31	192					0	0	0.001786	0	0
DCHS1	8642	broad.mit.edu	37	11	6655412	6655412	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6655412G>A	ENST00000299441.3	-	3	2334	c.1923C>T	c.(1921-1923)acC>acT	p.T641T	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	641	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGGTCCGGGTTGTGCACA	0.592000													35	69					0	0	0.003271	0	0
MTSS1L	92154	broad.mit.edu	37	16	70698331	70698331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:70698331G>A	ENST00000338779.6	-	15	1767	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	498					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CCCATTCACGGAGTAGCAGTC	0.672000													3	11					0	0	0.004672	0	0
DNAJC30	84277	broad.mit.edu	37	7	73097144	73097144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:73097144C>T	ENST00000395176.2	-	1	639	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	204					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)	4						CGGGTATCCTCCCAGCGGAGG	0.572000													33	76					0	0	0.003755	0	0
ZNF226	7769	broad.mit.edu	37	19	44681340	44681340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:44681340C>T	ENST00000590089.1	+	7	2292	c.1925C>T	c.(1924-1926)cCa>cTa	p.P642L	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.P642L|ZNF226_ENST00000454662.2_Missense_Mutation_p.P642L			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GGAGAAAAACCATTCAAATGT	0.458000													29	45					0	0	0.003271	0	0
SMARCA4	6597	broad.mit.edu	37	19	11100040	11100040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11100040C>T	ENST00000358026.2	+	7	1450	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	SMARCA4_ENST00000450717.3_Missense_Mutation_p.P389L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P389L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P389L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P389L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P389L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P389L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P389L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P389L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	389					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAAACCTTCCCGGGTCCCTG	0.617000			"""F, N, Mis"""		NSCLC								46	84					0	0	0.002852	0	0
BACH1	571	broad.mit.edu	37	21	30698863	30698863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:30698863C>T	ENST00000399921.1	+	3	961	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	BACH1_ENST00000286800.3_Missense_Mutation_p.R240C	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	240						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGACAGAGTCCGTACTGGGGA	0.443000													30	21					0	0	0.006320	0	0
PDE6A	5145	broad.mit.edu	37	5	149276015	149276015	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:149276015G>A	ENST00000255266.5	-	12	1643	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	508					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTAAGTCACTGAAGTGAAATT	0.393000													15	41					0	0	0.002450	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734223	26734223	+	Missense_Mutation	SNP	G	G	A	rs145373937		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:26734223G>A	ENST00000396005.3	-	2	679	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R124C	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	124					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R124C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCAGCATAGCGAACTGGTTTG	0.398000													92	127					0	0	0.003610	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351643	128351643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:128351643G>A	ENST00000262462.4	+	5	2045	c.1035G>A	c.(1033-1035)tgG>tgA	p.W345*	SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.W345*|SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.W345*			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	345					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTGATGTATGGAGAGAATTTT	0.368000													18	64					0	0	0.006122	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042330	75042330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:75042330C>T	ENST00000343932.4	+	2	314	c.251C>T	c.(250-252)cCc>cTc	p.P84L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	84					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GGCTCCACGCCCGTGCTGGTG	0.667000													24	21					0	0	0.003330	0	0
C10orf2	56652	broad.mit.edu	37	10	102748999	102748999	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:102748999G>A	ENST00000370228.1	+	1	1217	c.1032G>A	c.(1030-1032)gaG>gaA	p.E344E	C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Silent_p.E344E	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	344					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTCCCCTGGAGGCCCTGAACG	0.582000													15	42					0	0	0.003163	0	0
OR4C13	283092	broad.mit.edu	37	11	49974126	49974126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:49974126C>T	ENST00000555099.1	+	1	184	c.152C>T	c.(151-153)cCa>cTa	p.P51L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACTGCCAGCCCATCACTGAGA	0.428000													47	149					0	0	0.003610	0	0
COL3A1	1281	broad.mit.edu	37	2	189869027	189869027	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:189869027G>A	ENST00000304636.3	+	40	3038	c.2868G>A	c.(2866-2868)cgG>cgA	p.R956R	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	956	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGAGCACGGGGTCTTGCAG	0.507000													12	15					0	0	0.001855	0	0
KLHL22	84861	broad.mit.edu	37	22	20819664	20819664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:20819664G>A	ENST00000328879.4	-	4	749	c.593C>T	c.(592-594)tCc>tTc	p.S198F	KLHL22_ENST00000440659.2_Missense_Mutation_p.S55F	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	198					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCTGAGGAGGGAGTAGACCTT	0.557000													34	43					0	0	0.002836	0	0
FSTL4	23105	broad.mit.edu	37	5	132939627	132939627	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:132939627G>A	ENST00000265342.7	-	2	297	c.48C>T	c.(46-48)tcC>tcT	p.S16S		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	16						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCCGGCAGGGAGGCTCCGA	0.532000													32	42					0	0	0.002096	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881959	228881959	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:228881959C>A	ENST00000392056.3	-	7	3657	c.3611G>T	c.(3610-3612)aGa>aTa	p.R1204I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1204I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1204						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGCTGTCTCTTTCGATGTC	0.572000													21	103					3.85864e-22	4.31969e-22	0.002780	1	0
EFCAB6	64800	broad.mit.edu	37	22	44178146	44178146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:44178146C>T	ENST00000262726.7	-	3	306	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	EFCAB6_ENST00000356087.4_5'UTR|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000358439.4_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTAAATTTTCGTGTGTGAGG	0.378000													44	64					0	0	0.002522	0	0
MROH2B	133558	broad.mit.edu	37	5	41032918	41032918	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:41032918G>A	ENST00000399564.4	-	24	2817	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	MROH2B_ENST00000506092.2_Silent_p.F344F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CGTCTCTAATGAAGTCCTGAA	0.428000													9	13					0	0	0.004482	0	0
SNHG14	104472715	broad.mit.edu	37	15	25425476	25425476	+	RNA	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:25425476C>G	ENST00000441592.2	+	0	464																											CAGAGGAAGACGTGCATTGGG	0.622000													7	10					0	0	0.001984	0	0
NACA	4666	broad.mit.edu	37	12	57111328	57111328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57111328G>A	ENST00000454682.1	-	3	4267	c.3986C>T	c.(3985-3987)cCc>cTc	p.P1329L	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGCCCCTTTGGGGGGTGGGGT	0.627000			T	BCL6	NHL								27	51					0	0	0.002836	0	0
COL4A2	1284	broad.mit.edu	37	13	111121656	111121656	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:111121656T>C	ENST00000360467.5	+	28	2494	c.2188T>C	c.(2188-2190)Ttc>Ctc	p.F730L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	730	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCGTGAAGGGTTCCCAGGACC	0.577000													7	12					0	0	0.001984	0	0
AFMID	125061	broad.mit.edu	37	17	76201792	76201792	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:76201792C>T	ENST00000409257.5	+	9	807	c.753C>T	c.(751-753)ttC>ttT	p.F251F	AFMID_ENST00000327898.5_Silent_p.F251F|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	251						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCCCCGAATTCCACCGACAGT	0.592000													13	29					0	0	0.002450	0	0
DLEC1	9940	broad.mit.edu	37	3	38104186	38104186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:38104186C>T	ENST00000308059.6	+	5	1009	c.988C>T	c.(988-990)Ccc>Tcc	p.P330S	DLEC1_ENST00000346219.3_Missense_Mutation_p.P330S|DLEC1_ENST00000452631.2_Missense_Mutation_p.P330S			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	330					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCTAAAAAATCCCCGTTTTTT	0.458000													34	47					0	0	0.002445	0	0
DNAH3	55567	broad.mit.edu	37	16	21157305	21157305	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:21157305C>T	ENST00000261383.3	-	2	221	c.222_splice	c.e2+1	p.Q74_splice	DNAH3_ENST00000415178.1_Splice_Site_p.Q74_splice|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	74	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGTGCATACCTGATAGAGTC	0.552000													14	44					0	0	0.003163	0	0
FGF3	2248	broad.mit.edu	37	11	69625419	69625419	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:69625419C>G	ENST00000334134.2	-	3	464	c.374G>C	c.(373-375)gGc>gCc	p.G125A		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	125					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CGTATTATAGCCCAGCTCGTG	0.632000													21	33					0	0	0.003330	0	0
FREM2	341640	broad.mit.edu	37	13	39263887	39263887	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:39263887C>T	ENST00000280481.7	+	1	2622	c.2406C>T	c.(2404-2406)ttC>ttT	p.F802F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	802					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCCCAGTTCCAGTTCCAGG	0.547000													26	52					0	0	0.005443	0	0
HHAT	55733	broad.mit.edu	37	1	210761357	210761357	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:210761357T>C	ENST00000367010.1	+	10	1386	c.1159T>C	c.(1159-1161)Tgc>Cgc	p.C387R	HHAT_ENST00000545781.1_Missense_Mutation_p.C324R|HHAT_ENST00000541565.1_Missense_Mutation_p.C250R|HHAT_ENST00000391905.3_Missense_Mutation_p.C387R|HHAT_ENST00000413764.2_Missense_Mutation_p.C387R|HHAT_ENST00000261458.3_Missense_Mutation_p.C387R|HHAT_ENST00000367009.1_Missense_Mutation_p.C77R|HHAT_ENST00000308852.6_Missense_Mutation_p.C342R|HHAT_ENST00000537898.1_Missense_Mutation_p.C322R|HHAT_ENST00000545154.1_Missense_Mutation_p.C388R	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	387					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTACCTCTGGTGCTGGGCAGC	0.602000													23	23					0	0	0.001882	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010091	27010091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:27010091C>T	ENST00000314616.6	+	15	2142	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.P620L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	620					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AATATAACCCCCACCAAGAAA	0.532000													3	7					0	0	0.004672	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42860336	42860336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:42860336C>T	ENST00000398585.3	-	5	601	c.541G>A	c.(541-543)Gac>Aac	p.D181N	TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.D144N|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.D144N	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	144	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CGATTCTCGTCCTCCCCGCCG	0.612000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								24	21					0	0	0.008361	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257251	114257251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:114257251C>T	ENST00000306507.5	+	1	591	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	140					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CATTAGTGGCCGCTTCCCCTA	0.632000													52	217					0	0	0.003610	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73932635	73932635	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:73932635C>T	ENST00000476977.1	+	5	2279	c.588C>T	c.(586-588)atC>atT	p.I196I	GTF2IRD1_ENST00000424337.2_Silent_p.I196I|GTF2IRD1_ENST00000265755.3_Silent_p.I196I|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.I228I			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	196						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCCACCGCATCCGCTTCAAGC	0.701000													11	20					0	0	0.001368	0	0
ASS1	445	broad.mit.edu	37	9	133333934	133333934	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:133333934G>A	ENST00000372394.1	+	5	802	c.321G>A	c.(319-321)caG>caA	p.Q107Q	ASS1_ENST00000372393.3_Silent_p.Q107Q|ASS1_ENST00000352480.5_Silent_p.Q107Q			P00966	ASSY_HUMAN	argininosuccinate synthase 1	107					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AAATCGCCCAGCGGGAGGGGG	0.667000													11	13					0	0	0.001368	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302248	128302248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:128302248C>T	ENST00000262462.4	+	1	1428	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	SLC27A6_ENST00000506176.1_Missense_Mutation_p.R140C|SLC27A6_ENST00000395266.1_Missense_Mutation_p.R140C			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	140					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CACCAACATTCGCTCCAACTC	0.602000													6	18					0	0	0.001168	0	0
INPP5D	3635	broad.mit.edu	37	2	234112976	234112976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:234112976C>T	ENST00000359570.5	+	28	3144	c.3144C>T	c.(3142-3144)atC>atT	p.1048_1048insI	INPP5D_ENST00000455936.2_Missense_Mutation_p.812_812insI|INPP5D_ENST00000450745.1_Missense_Mutation_p.812_812insI			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGCCCAGCATCGTGCTCACCA	0.687000													9	30					0	0	0.008291	0	0
SERPINB13	5275	broad.mit.edu	37	18	61261698	61261698	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61261698A>G	ENST00000344731.5	+	6	684	c.582A>G	c.(580-582)gaA>gaG	p.E194E	SERPINB13_ENST00000269489.5_Silent_p.E194E	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	194					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTAAGAAAGAAAATACTAAGG	0.398000													9	35					0	0	0.000978	0	0
CYLC1	1538	broad.mit.edu	37	X	83128722	83128722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:83128722G>A	ENST00000329312.4	+	4	1043	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	336					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TACTGATGCTGAATCTGGAGA	0.343000													8	11					0	0	0.003080	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241867	87241867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:87241867C>T	ENST00000297524.3	-	1	743	c.640G>A	c.(640-642)Gga>Aga	p.G214R	SLC7A13_ENST00000419776.2_Missense_Mutation_p.G214R|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	214						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GCAAAATATCCTTGGAAGATG	0.368000													41	46					0	0	0.002222	0	0
PCLO	27445	broad.mit.edu	37	7	82545020	82545020	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:82545020G>A	ENST00000423517.2	-	7	12619	c.12282C>T	c.(12280-12282)ttC>ttT	p.F4094F	PCLO_ENST00000333891.8_Silent_p.F4094F|PCLO_ENST00000437081.1_Silent_p.F814F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4025					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGGTGCTAGGAAATCTGTCA	0.453000													15	13					0	0	0.002450	0	0
XXYLT1	152002	broad.mit.edu	37	3	194947472	194947472	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:194947472G>A	ENST00000310380.6	-	2	726	c.618C>T	c.(616-618)ttC>ttT	p.F206F	XXYLT1_ENST00000429994.1_Silent_p.F60F	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	206						integral to membrane	transferase activity, transferring glycosyl groups										CGACCGAGAGGAAGAAGATGG	0.537000													11	63					0	0	0.002450	0	0
PTPRD	5789	broad.mit.edu	37	9	8485270	8485270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:8485270G>A	ENST00000381196.4	-	26	3653	c.3110C>T	c.(3109-3111)tCt>tTt	p.S1037F	PTPRD_ENST00000397611.3_Missense_Mutation_p.S623F|PTPRD_ENST00000355233.5_Missense_Mutation_p.S626F|PTPRD_ENST00000397606.3_Missense_Mutation_p.S616F|PTPRD_ENST00000397617.3_Missense_Mutation_p.S616F|PTPRD_ENST00000360074.4_Missense_Mutation_p.S1024F|PTPRD_ENST00000356435.5_Missense_Mutation_p.S1037F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S1015F|PTPRD_ENST00000537002.1_Missense_Mutation_p.S623F|PTPRD_ENST00000486161.1_Missense_Mutation_p.S626F|PTPRD_ENST00000540109.1_Missense_Mutation_p.S1037F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1037	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATCTCCCAAGACAGCAACAC	0.343000										TSP Lung(15;0.13)			16	11					0	0	0.008871	0	0
MYH15	22989	broad.mit.edu	37	3	108178230	108178230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:108178230G>A	ENST00000273353.3	-	19	2115	c.2059C>T	c.(2059-2061)Ccc>Tcc	p.P687S	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	687	Actin-binding (By similarity).|Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCACATTGGGATTTATGCAT	0.289000													21	21					0	0	0.003330	0	0
C2orf73	129852	broad.mit.edu	37	2	54587394	54587394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:54587394C>T	ENST00000398634.2	+	5	601	c.559C>T	c.(559-561)Cct>Tct	p.P187S	C2orf73_ENST00000491538.1_3'UTR|C2orf73_ENST00000405749.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	187										breast(2)	2						GCCAACAGTTCCTAAAGGAGC	0.443000													3	12					0	0	0.004672	0	0
DPYD	1806	broad.mit.edu	37	1	97700483	97700483	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:97700483G>A	ENST00000370192.3	-	19	2467	c.2367C>T	c.(2365-2367)ccC>ccT	p.P789P	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	789					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TAGCCAAAATGGGAAATCCAG	0.468000													17	33					0	0	0.004007	0	0
STXBP5	134957	broad.mit.edu	37	6	147694887	147694887	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:147694887C>A	ENST00000367481.3	+	24	3102	c.2994C>A	c.(2992-2994)ttC>ttA	p.F998L	STXBP5_ENST00000367480.3_Missense_Mutation_p.F981L|STXBP5_ENST00000321680.6_Missense_Mutation_p.F1034L|STXBP5_ENST00000179882.6_Missense_Mutation_p.F689L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1034					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTGAACTCTTCACTCCTGTAG	0.363000													23	51					1.64293e-13	1.83209e-13	0.003330	1	0
ZNF462	58499	broad.mit.edu	37	9	109691428	109691428	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:109691428C>T	ENST00000277225.5	+	3	5524	c.5235C>T	c.(5233-5235)atC>atT	p.I1745I	ZNF462_ENST00000457913.1_Silent_p.I1745I|ZNF462_ENST00000441147.2_Silent_p.I590I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1745					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGTGATCATCCCATCCCCGC	0.572000													13	12					0	0	0.003163	0	0
DNAH8	1769	broad.mit.edu	37	6	38690838	38690838	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:38690838C>T	ENST00000449981.2	+	2	362	c.253C>T	c.(253-255)Cga>Tga	p.R85*						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAATAGAGTTCGACAGAGGCT	0.512000													28	46					0	0	0.008361	0	0
CAMK1G	57172	broad.mit.edu	37	1	209782328	209782328	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:209782328C>T	ENST00000009105.1	+	8	884	c.639C>T	c.(637-639)ctC>ctT	p.L213L	CAMK1G_ENST00000361322.2_Silent_p.L213L|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	213	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GCTGCAGGCTCTGTGGATACC	0.512000													26	54					0	0	0.005443	0	0
OR2T33	391195	broad.mit.edu	37	1	248437021	248437021	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248437021G>A	ENST00000318021.2	-	1	117	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	32					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)			AGGTCAAAACGATACTCAGAA	0.478000													4	66					0	0	0.004482	0	0
TTLL7	79739	broad.mit.edu	37	1	84386840	84386840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:84386840C>T	ENST00000260505.8	-	12	1671	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	432					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GCGAGTCTCTCTTTCTGGAAA	0.328000													16	54					0	0	0.004007	0	0
NTSR1	4923	broad.mit.edu	37	20	61391602	61391602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:61391602C>T	ENST00000370501.3	+	4	1611	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	414						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CAATGCCACCCGCGAGACGCT	0.687000													17	24					0	0	0.006122	0	0
SGK1	6446	broad.mit.edu	37	6	134491456	134491456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:134491456C>T	ENST00000367858.5	-	14	2128	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	SGK1_ENST00000367857.5_Missense_Mutation_p.E406K|SGK1_ENST00000475719.2_Missense_Mutation_p.E372K|SGK1_ENST00000528577.1_Missense_Mutation_p.E444K|SGK1_ENST00000237305.7_Missense_Mutation_p.E416K|SGK1_ENST00000413996.3_Missense_Mutation_p.E430K	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	416					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AGGAAAGCCTCGGCAGCTTCC	0.532000													23	63					0	0	0.002780	0	0
PARP9	83666	broad.mit.edu	37	3	122274437	122274437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:122274437G>A	ENST00000462315.1	-	4	874	c.581C>T	c.(580-582)aCt>aTt	p.T194I	PARP9_ENST00000471785.1_Missense_Mutation_p.T194I|PARP9_ENST00000477522.2_Missense_Mutation_p.T194I|PARP9_ENST00000360356.2_Missense_Mutation_p.T229I|PARP9_ENST00000492382.1_Intron	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	229	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTTAATGTGAGTATTTTTATA	0.423000													18	25					0	0	0.006122	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265234	42265234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:42265234G>A	ENST00000199764.6	+	3	720	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	168	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTTCACCTGTGAACCTGAGGT	0.567000													98	134					0	0	0.003610	0	0
RTKN2	219790	broad.mit.edu	37	10	63983057	63983057	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:63983057G>A	ENST00000373789.3	-	7	817	c.721C>T	c.(721-723)Cta>Tta	p.L241L	RTKN2_ENST00000395265.1_Silent_p.L241L|RTKN2_ENST00000315289.2_Silent_p.L22L	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	241					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TCCAAGGTTAGGGTAGTGTGA	0.294000													17	91					0	0	0.008871	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886515	228886515	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:228886515C>T	ENST00000392056.3	-	6	655	c.609G>A	c.(607-609)acG>acA	p.T203T	SPHKAP_ENST00000344657.5_Silent_p.T203T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	203						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGAACAGTTCGTGTCATCCT	0.463000													24	38					0	0	0.003330	0	0
THSD4	79875	broad.mit.edu	37	15	71433893	71433893	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:71433893C>T	ENST00000355327.3	+	2	161	c.27C>T	c.(25-27)ctC>ctT	p.L9L	THSD4_ENST00000261862.6_Silent_p.L9L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	9						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGGGGTCTCTCAGGTAAGTGA	0.393000													7	21					0	0	0.004482	0	0
CCKAR	886	broad.mit.edu	37	4	26483297	26483297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:26483297G>A	ENST00000295589.3	-	5	1444	c.1250C>T	c.(1249-1251)tCg>tTg	p.S417L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	417					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ATGGCTGTACGAGAACCTGGA	0.637000													55	100					0	0	0.003610	0	0
MAML1	9794	broad.mit.edu	37	5	179201801	179201801	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:179201801C>T	ENST00000292599.3	+	5	3237	c.2974C>T	c.(2974-2976)Ctg>Ttg	p.L992L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	992					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACACCGATCTGATCGACTC	0.557000													19	71					0	0	0.007413	0	0
JAG1	182	broad.mit.edu	37	20	10630183	10630183	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:10630183C>T	ENST00000254958.5	-	10	1850	c.1335G>A	c.(1333-1335)caG>caA	p.Q445Q	JAG1_ENST00000423891.2_Silent_p.Q286Q	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	445	EGF-like 6; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGTCACAATTCTGACCCATCC	0.468000									Alagille Syndrome				13	15					0	0	0.001368	0	0
IRX3	79191	broad.mit.edu	37	16	54318800	54318800	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:54318800C>T	ENST00000329734.3	-	2	1705	c.993G>A	c.(991-993)ctG>ctA	p.L331L		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	331	Pro-rich.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						CGCAGGGGTCCAGGCTCACGG	0.721000													7	8					0	0	0.003080	0	0
GALC	2581	broad.mit.edu	37	14	88448548	88448548	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:88448548C>T	ENST00000261304.2	-	6	728		c.e6+1		GALC_ENST00000554916.1_Splice_Site|GALC_ENST00000393568.4_Splice_Site|GALC_ENST00000393569.2_Splice_Site|GALC_ENST00000544807.2_Splice_Site	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase						carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTGTACACACCTTAATATAA	0.289000													9	25					0	0	0.008291	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229718	8229718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:8229718C>T	ENST00000539824.1	+	12	2443	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	SH3TC1_ENST00000245105.3_Missense_Mutation_p.S766F			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	766							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCCCAAACTTCCCACTACCTC	0.692000													14	21					0	0	0.004007	0	0
ZNF257	113835	broad.mit.edu	37	19	22270897	22270897	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22270897G>A	ENST00000594947.1	+	4	489	c.345G>A	c.(343-345)aaG>aaA	p.K115K	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	115					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)				AATTAAGAAAGGGCTGTAAAA	0.358000													23	34					0	0	0.004656	0	0
RIMS2	9699	broad.mit.edu	37	8	104943551	104943551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:104943551G>A	ENST00000507740.1	+	9	1917	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N	RIMS2_ENST00000436393.2_Missense_Mutation_p.D547N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D608N|RIMS2_ENST00000406091.3_Missense_Mutation_p.D769N	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	831					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGGAGCAAAAGATCTCCCTTC	0.323000										HNSCC(12;0.0054)			28	53					0	0	0.001786	0	0
ANKRD35	148741	broad.mit.edu	37	1	145555775	145555775	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:145555775C>T	ENST00000355594.4	+	2	210	c.123C>T	c.(121-123)tcC>tcT	p.S41S	ANKRD35_ENST00000544626.1_Silent_p.S41S	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	41										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCTGGCCTCCAGGAAATCTG	0.622000													12	33					0	0	0.001855	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30863305	30863305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:30863305G>A	ENST00000251071.5	-	18	3665	c.2915C>T	c.(2914-2916)cCt>cTt	p.P972L	CAPRIN2_ENST00000417045.1_3'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P638L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P922L|CAPRIN2_ENST00000395805.2_3'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	972					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CACATCCACAGGGGTCATGCT	0.547000													109	214					0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100454726	100454726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:100454726G>A	ENST00000395996.1	+	23	3419	c.3308G>A	c.(3307-3309)tGg>tAg	p.W1103*	VPS13B_ENST00000358544.2_Nonsense_Mutation_p.W1103*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.W1103*			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1103					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTAAGAAGTTGGTACCATGGA	0.433000													27	44					0	0	0.003954	0	0
RAD50	10111	broad.mit.edu	37	5	131940662	131940662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:131940662G>A	ENST00000378823.3	+	16	3090	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K	RAD50_ENST00000265335.6_Missense_Mutation_p.E897K	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	897					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTATCCACTGAAGTTCAGTC	0.299000								Homologous recombination					10	23					0	0	0.002450	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401667	1401667	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:1401667A>T	ENST00000381524.3	+	3	257	c.71A>T	c.(70-72)aAa>aTa	p.K24I	CSF2RA_ENST00000417535.2_Missense_Mutation_p.K24I|CSF2RA_ENST00000381509.3_Missense_Mutation_p.K24I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.K24I|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000361536.3_Missense_Mutation_p.K24I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.K24I|CSF2RA_ENST00000355805.2_Missense_Mutation_p.K24I|CSF2RA_ENST00000381529.3_Missense_Mutation_p.K24I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.K24I			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	24						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATCCCAGAGAAATCGGGTAAG	0.537000													92	212					0	0	0.003610	0	0
ZNF676	163223	broad.mit.edu	37	19	22363612	22363612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22363612G>A	ENST00000397121.2	-	3	1224	c.907C>T	c.(907-909)Cat>Tat	p.H303Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGTATGAATTCTCTTA	0.438000													27	53					0	0	0.002096	0	0
TTN	7273	broad.mit.edu	37	2	179425534	179425534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179425534G>A	ENST00000589042.1	-	326	85549	c.85325C>T	c.(85324-85326)gCc>gTc	p.A28442V	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A19502V|TTN_ENST00000342175.6_Missense_Mutation_p.A19569V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A26801V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A25874V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A19377V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26801	Fibronectin type-III 107.						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)			GCAATTAACGGCCACAGACCG	0.458000													10	35					0	0	0.006214	0	0
NLRP13	126204	broad.mit.edu	37	19	56424493	56424493	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56424493C>T	ENST00000588751.1	-	5	714	c.690G>A	c.(688-690)acG>acA	p.T230T	NLRP13_ENST00000342929.3_Silent_p.T230T			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	230	NACHT.						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)		CCAAGACTATCGTCTGGGCCT	0.522000													58	115					0	0	0.003610	0	0
STARD3	10948	broad.mit.edu	37	17	37814692	37814692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:37814692C>T	ENST00000336308.5	+	6	682	c.464C>T	c.(463-465)cCc>cTc	p.P155L	STARD3_ENST00000544210.2_Missense_Mutation_p.P151S|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000394250.4_Missense_Mutation_p.P137L|STARD3_ENST00000580611.1_Missense_Mutation_p.P129L	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	155	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TACCTGCTCCCCATCGTCTCT	0.592000													19	39					0	0	0.007413	0	0
PLCG2	5336	broad.mit.edu	37	16	81960745	81960745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:81960745G>A	ENST00000359376.3	+	23	2690	c.2476G>A	c.(2476-2478)Gac>Aac	p.D826N		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	826	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTACGTCGAGGACATCTCAAC	0.532000													33	93					0	0	0.003271	0	0
PTPRS	5802	broad.mit.edu	37	19	5220054	5220054	+	Missense_Mutation	SNP	G	G	A	rs114904537	by1000genomes	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:5220054G>A	ENST00000372412.4	-	22	3897	c.3664C>T	c.(3664-3666)Cat>Tat	p.H1222Y	PTPRS_ENST00000357368.4_Missense_Mutation_p.H1221Y|PTPRS_ENST00000353284.2_Missense_Mutation_p.H790Y|PTPRS_ENST00000348075.2_Missense_Mutation_p.H1199Y|PTPRS_ENST00000592099.1_Missense_Mutation_p.H790Y|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.H1199Y|PTPRS_ENST00000587303.1_Missense_Mutation_p.H1221Y|PTPRS_ENST00000262963.6_Missense_Mutation_p.H1217Y			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1221					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCGCCGGGATGGAACGTGGGT	0.642000													28	46					0	0	0.003755	0	0
RETNLB	84666	broad.mit.edu	37	3	108475404	108475404	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:108475404G>A	ENST00000295755.6	-	2	357	c.159C>T	c.(157-159)ctC>ctT	p.L53L	RETNLB_ENST00000482939.1_5'UTR	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	53					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						TAGCACACGAGAGCTTCTTGC	0.527000													6	44					0	0	0.003080	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441550	1441550	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:1441550G>A	ENST00000270349.9	-	3	469	c.342C>T	c.(340-342)ttC>ttT	p.F114F	SLC6A3_ENST00000453492.2_Silent_p.F114F	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	114					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCTCCATGTAGAAAAGTGGCA	0.577000													20	31					0	0	0.007413	0	0
STK31	56164	broad.mit.edu	37	7	23854802	23854802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:23854802G>A	ENST00000354639.3	+	23	3195	c.2731G>A	c.(2731-2733)Gga>Aga	p.G911R	STK31_ENST00000433467.2_Intron|STK31_ENST00000355870.3_Missense_Mutation_p.G934R|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.G911R	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	934	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAATAAAGATGGAATCCCCAA	0.323000													17	34					0	0	0.006122	0	0
OR10J1	26476	broad.mit.edu	37	1	159410507	159410507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:159410507C>T	ENST00000423932.3	+	1	996	c.959C>T	c.(958-960)tCc>tTc	p.S320F	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	320					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GGGAAGTTTTCCTGACCATGT	0.493000													30	49					0	0	0.002445	0	0
PTPRK	5796	broad.mit.edu	37	6	128643369	128643369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:128643369G>A	ENST00000368227.3	-	3	676	c.310C>T	c.(310-312)Cac>Tac	p.H104Y	PTPRK_ENST00000532331.1_Missense_Mutation_p.H104Y|PTPRK_ENST00000368226.4_Missense_Mutation_p.H104Y|PTPRK_ENST00000368215.3_Missense_Mutation_p.H104Y|PTPRK_ENST00000368210.3_Missense_Mutation_p.H104Y|PTPRK_ENST00000525459.1_Missense_Mutation_p.H104Y|PTPRK_ENST00000368207.3_Missense_Mutation_p.H104Y|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.H104Y			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	104	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCAATGCAGTGAGTGTCGTTC	0.418000													58	98					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82545000	82545000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:82545000G>A	ENST00000423517.2	-	7	12639	c.12302C>T	c.(12301-12303)tCc>tTc	p.S4101F	PCLO_ENST00000333891.8_Missense_Mutation_p.S4101F|PCLO_ENST00000437081.1_Missense_Mutation_p.S821F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4032					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAATCTAGAGGAAGACTGTAA	0.438000													17	17					0	0	0.004990	0	0
DCC	1630	broad.mit.edu	37	18	50937012	50937012	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:50937012G>A	ENST00000442544.2	+	20	3742	c.3126G>A	c.(3124-3126)ctG>ctA	p.L1042L	DCC_ENST00000412726.1_Silent_p.L870L|DCC_ENST00000581580.1_Silent_p.L677L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1042					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCAGGACTCTGAAAGGTTTGA	0.388000													24	29					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9046853	9046853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9046853G>A	ENST00000397910.4	-	5	34981	c.34778C>T	c.(34777-34779)cCc>cTc	p.P11593L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11595	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						GGAAAAGTTGGGAATTGTCCC	0.522000													30	56					0	0	0.002096	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111643176	111643176	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:111643176T>A	ENST00000261486.5	-	2	387	c.111A>T	c.(109-111)aaA>aaT	p.K37N		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	37	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CAACGGAACCTTTCGTTGACT	0.378000													13	42					0	0	0.001368	0	0
SEPT14	346288	broad.mit.edu	37	7	55912396	55912396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:55912396C>T	ENST00000388975.3	-	4	307	c.191G>A	c.(190-192)gGa>gAa	p.G64E	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	64					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTCGATTTTCCAATTCCAGT	0.343000													8	26					0	0	0.003080	0	0
CACNA1E	777	broad.mit.edu	37	1	181767550	181767550	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:181767550C>T	ENST00000526775.1	+	46	6501	c.6336C>T	c.(6334-6336)tcC>tcT	p.S2112S	CACNA1E_ENST00000358338.5_Silent_p.S2063S|CACNA1E_ENST00000367573.2_Silent_p.S2174S|CACNA1E_ENST00000367567.4_Silent_p.S1738S|CACNA1E_ENST00000357570.5_Silent_p.S2125S|CACNA1E_ENST00000367570.1_Silent_p.S2131S|CACNA1E_ENST00000360108.3_Silent_p.S2155S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2174					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTACAGCTCCCTGATTCGAC	0.632000													31	64					0	0	0.002096	0	0
FAM179A	165186	broad.mit.edu	37	2	29245104	29245104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:29245104G>A	ENST00000379558.4	+	11	1792	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	FAM179A_ENST00000403861.2_Missense_Mutation_p.E426K|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	481							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCCTGTAAGGAGTTGAGGCC	0.537000													24	42					0	0	0.004656	0	0
ZNF99	7652	broad.mit.edu	37	19	22939275	22939275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22939275G>A	ENST00000397104.3	-	7	2895	c.2896C>T	c.(2896-2898)Cat>Tat	p.H966Y						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCCAGTATGAATTATCCTA	0.358000													12	13					0	0	0.001855	0	0
FSCN1	6624	broad.mit.edu	37	7	5642949	5642949	+	Silent	SNP	C	C	T	rs147410388		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:5642949C>T	ENST00000382361.3	+	2	1008	c.894C>T	c.(892-894)atC>atT	p.I298I	FSCN1_ENST00000340250.6_Silent_p.I277I	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	298					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	p.I298I(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		AGCTGGAGATCGACCGCGACA	0.637000													21	46					0	0	0.002299	0	0
MYH2	4620	broad.mit.edu	37	17	10432099	10432099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10432099G>A	ENST00000245503.5	-	27	4036	c.3652C>T	c.(3652-3654)Cga>Tga	p.R1218*	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.R1218*|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1218					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTTCACTCGCTGCAGGTTG	0.527000													43	27					0	0	0.003610	0	0
ID2	3398	broad.mit.edu	37	2	8822544	8822544	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:8822544C>T	ENST00000234091.4	+	3	1109	c.249C>T	c.(247-249)ccC>ccT	p.P83P	ID2_ENST00000331129.3_Silent_p.P83P|ID2_ENST00000396290.1_Silent_p.P83P			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	83					cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTCGCATCCCACTATTGTCA	0.582000													12	37					0	0	0.001855	0	0
GPATCH1	55094	broad.mit.edu	37	19	33617590	33617590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:33617590C>T	ENST00000170564.2	+	19	3030	c.2716C>T	c.(2716-2718)Cag>Tag	p.Q906*		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	906						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CAGCGACAGCCAGAGTGACGA	0.488000											OREG0025410	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	60					0	0	0.001882	0	0
NAA25	80018	broad.mit.edu	37	12	112506773	112506773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:112506773G>A	ENST00000261745.4	-	11	1308	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	354						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTAAAATACTGGAACATTAAT	0.343000													23	39					0	0	0.002299	0	0
PSAP	5660	broad.mit.edu	37	10	73587852	73587852	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:73587852C>T	ENST00000394936.3	-	6	786	c.639G>A	c.(637-639)cgG>cgA	p.R213R	PSAP_ENST00000394934.1_Silent_p.R213R			P07602	SAP_HUMAN	prosaposin	213	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TGGAGTTGGTCCGTACAGCAG	0.537000													50	45					0	0	0.003610	0	0
OR2M7	391196	broad.mit.edu	37	1	248487663	248487663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248487663C>T	ENST00000317965.2	-	1	236	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCATGAGGTCCATGAGGGAC	0.512000													99	167					0	0	0.003610	0	0
SCML2	10389	broad.mit.edu	37	X	18259476	18259476	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:18259476G>A	ENST00000251900.4	-	15	2157	c.1998C>T	c.(1996-1998)ttC>ttT	p.F666F	SCML2_ENST00000398048.3_3'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	666	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TCTTGAGTAGGAACAGAGCCT	0.343000													54	14					0	0	0.003610	0	0
DHX38	9785	broad.mit.edu	37	16	72132922	72132922	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:72132922C>T	ENST00000268482.3	+	6	1370	c.861C>T	c.(859-861)acC>acT	p.T287T	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	287					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGGGGTCCACCCCGCGTCTGT	0.622000													7	29					0	0	0.003080	0	0
TRPV1	7442	broad.mit.edu	37	17	3495376	3495376	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:3495376C>G	ENST00000174621.6	-	2	482	c.193G>C	c.(193-195)Gcc>Ccc	p.A65P	TRPV1_ENST00000425167.2_Missense_Mutation_p.G90A|TRPV1_ENST00000399756.4_Missense_Mutation_p.G90A|TRPV1_ENST00000571088.1_Missense_Mutation_p.G90A|TRPV1_ENST00000310522.5_Missense_Mutation_p.G90A|TRPV1_ENST00000399759.3_Missense_Mutation_p.G90A|TRPV1_ENST00000576351.1_Missense_Mutation_p.G90A|SHPK_ENST00000572705.1_Missense_Mutation_p.G90A			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	763					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	ACCGGTGGGGCCGTCTCCTGG	0.647000													14	14					0	0	0.002450	0	0
CFHR3	10878	broad.mit.edu	37	1	196748941	196748941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:196748941C>T	ENST00000471440.2	+	3	342	c.268C>T	c.(268-270)Cct>Tct	p.P90S	CFHR3_ENST00000367425.4_Missense_Mutation_p.P90S|CFHR3_ENST00000391985.3_Missense_Mutation_p.P90S					complement factor H-related 3									p.P90S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						ATGTTATTTTCCTTATTTGGA	0.299000													9	3					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179438459	179438459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179438459C>T	ENST00000589042.1	-	326	72624	c.72400G>A	c.(72400-72402)Gaa>Aaa	p.E24134K	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15194K|TTN_ENST00000342175.6_Missense_Mutation_p.E15261K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E22493K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21566K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E15069K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22493	Fibronectin type-III 75.						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)			GATGTCACTTCAGTTACAGCC	0.443000													54	52					0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50912476	50912476	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:50912476T>A	ENST00000442544.2	+	16	3039	c.2423T>A	c.(2422-2424)cTt>cAt	p.L808H	DCC_ENST00000412726.1_Missense_Mutation_p.L656H|DCC_ENST00000581580.1_Missense_Mutation_p.L463H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	808	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGAGTTCCTCTTTATGAAAGT	0.348000													13	36					0	0	0.004007	0	0
RAE1	8480	broad.mit.edu	37	20	55953129	55953129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:55953129G>A	ENST00000395841.2	+	12	1501	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	RAE1_ENST00000371242.2_Missense_Mutation_p.E361K|RAE1_ENST00000395840.2_Missense_Mutation_p.E361K	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	361					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			TGCAGCCGAAGAGCTAAAGCC	0.418000													11	15					0	0	0.001855	0	0
CCDC94	55702	broad.mit.edu	37	19	4249240	4249240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:4249240G>A	ENST00000262962.7	+	2	108	c.40G>A	c.(40-42)Gac>Aac	p.D14N		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	14										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CTACCCGCCGGACTTTGACCC	0.587000													17	29					0	0	0.004990	0	0
SPINK9	643394	broad.mit.edu	37	5	147716007	147716007	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:147716007G>A	ENST00000511717.2	+	3	411	c.141G>A	c.(139-141)acG>acA	p.T47T	SPINK9_ENST00000377906.1_Silent_p.T26T|RP11-373N22.3_ENST00000501695.3_RNA			Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	26	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAACAGACGAAACAGATGG	0.299000													23	92					0	0	0.004656	0	0
HR	55806	broad.mit.edu	37	8	21978678	21978678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:21978678G>A	ENST00000381418.4	-	10	3747	c.2267C>T	c.(2266-2268)cCt>cTt	p.P756L	HR_ENST00000312841.8_Missense_Mutation_p.P756L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	756							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCAGAGAGAAGGACAAGGCAG	0.642000													55	103					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916226	9916226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:9916226C>T	ENST00000396573.2	-	11	2372	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	GRIN2A_ENST00000330684.3_Missense_Mutation_p.G688E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G688E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G688E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G531E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G688E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	688					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCGTGCTTCCATTAGGCAC	0.443000													13	41					0	0	0.002450	0	0
DNAH17	8632	broad.mit.edu	37	17	76437248	76437248	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:76437248G>A	ENST00000389840.5	-	72	11644	c.11520C>T	c.(11518-11520)ttC>ttT	p.F3840F	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000585328.1_Silent_p.F3849F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGCCTTCCACGAACTTGCTGC	0.602000													22	31					0	0	0.003330	0	0
FRMD7	90167	broad.mit.edu	37	X	131220009	131220009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:131220009G>A	ENST00000298542.4	-	6	611	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	FRMD7_ENST00000464296.1_Missense_Mutation_p.R131W|FRMD7_ENST00000370879.1_Missense_Mutation_p.R26W	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	146	FERM.		R -> W (in NYS1).		regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGTAAGTACCGAGTTTGTGCC	0.433000													68	23					0	0	0.003610	0	0
CHRM2	1129	broad.mit.edu	37	7	136700040	136700040	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:136700040T>G	ENST00000445907.2	+	3	956	c.428T>G	c.(427-429)aTg>aGg	p.M143R	CHRM2_ENST00000402486.3_Missense_Mutation_p.M143R|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.M143R|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.M143R|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.M143R|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.M143R	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	143					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GCAGGTATGATGATTGCAGCT	0.502000													41	59					0	0	0.007835	0	0
MUC4	4585	broad.mit.edu	37	3	195493586	195493586	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:195493586G>A	ENST00000463781.3	-	8	14025	c.13566C>T	c.(13564-13566)tcC>tcT	p.S4522S	MUC4_ENST00000346145.4_Silent_p.S286S|MUC4_ENST00000349607.4_Silent_p.S235S|MUC4_ENST00000475231.1_Silent_p.S4470S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1279					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACACTGGCTGGGACATCAGTG	0.552000													29	37					0	0	0.002445	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193726	193726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:193726G>A	ENST00000342878.2	+	2	90	c.70G>A	c.(70-72)Gag>Aag	p.E24K	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	24						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGCCACAGGGGAGGACAACGA	0.577000													18	42					0	0	0.007413	0	0
PAK3	5063	broad.mit.edu	37	X	110390987	110390987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:110390987G>A	ENST00000519681.1	+	8	804	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	PAK3_ENST00000360648.4_Missense_Mutation_p.R136Q|PAK3_ENST00000425146.1_Missense_Mutation_p.R100Q|PAK3_ENST00000372007.4_Missense_Mutation_p.R100Q|PAK3_ENST00000262836.4_Missense_Mutation_p.R115Q|PAK3_ENST00000417227.1_Missense_Mutation_p.R121Q|PAK3_ENST00000518291.1_Missense_Mutation_p.R136Q|PAK3_ENST00000372010.1_Missense_Mutation_p.R115Q|PAK3_ENST00000446737.1_Missense_Mutation_p.R100Q			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	115	Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CAATGGGCACGATTACTCCAA	0.398000										TSP Lung(19;0.15)			40	14					0	0	0.002222	0	0
ANK2	287	broad.mit.edu	37	4	114179525	114179525	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:114179525C>T	ENST00000357077.4	+	13	1397	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L	ANK2_ENST00000394537.3_Silent_p.L448L|ANK2_ENST00000264366.6_Silent_p.L448L|ANK2_ENST00000506722.1_Silent_p.L427L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	448					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACATTGTCCTCCTTCTGCTGC	0.517000													36	146					0	0	0.006999	0	0
C14orf37	145407	broad.mit.edu	37	14	58471804	58471804	+	Missense_Mutation	SNP	G	G	A	rs146935912	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:58471804G>A	ENST00000267485.7	-	7	2412	c.2218C>T	c.(2218-2220)Cgc>Tgc	p.R740C		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	740	Poly-Arg.					integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTCCTTCGGCGATTCATAACC	0.443000													40	73					0	0	0.008740	0	0
NBEA	26960	broad.mit.edu	37	13	35735898	35735898	+	Silent	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:35735898T>C	ENST00000400445.3	+	23	4407	c.3873T>C	c.(3871-3873)ggT>ggC	p.G1291G	NBEA_ENST00000379939.2_Silent_p.G1291G|NBEA_ENST00000540320.1_Silent_p.G1291G|NBEA_ENST00000310336.4_Silent_p.G1291G	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1291						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTGTGCAGGGTCGGTCTATCA	0.428000													4	10					0	0	0.000602	0	0
ITGB8	3696	broad.mit.edu	37	7	20445782	20445782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:20445782G>A	ENST00000222573.3	+	12	2695	c.2011G>A	c.(2011-2013)Gac>Aac	p.D671N	ITGB8_ENST00000537992.1_Missense_Mutation_p.D536N	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	671					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCATTATGTCGACCAAACTTC	0.423000													18	29					0	0	0.006122	0	0
HTR2C	3358	broad.mit.edu	37	X	114082605	114082605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:114082605G>A	ENST00000276198.1	+	5	1117	c.389G>A	c.(388-390)tGg>tAg	p.W130*	HTR2C_ENST00000371950.3_Nonsense_Mutation_p.W130*|HTR2C_ENST00000371951.1_Nonsense_Mutation_p.W130*	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	130					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGCCCCGTCTGGATTTCTTTA	0.418000													51	23					0	0	0.003610	0	0
TAF4	6874	broad.mit.edu	37	20	60585161	60585161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:60585161G>A	ENST00000252996.3	-	4	1701	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	568					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTCCCCGTCTGAACAGCCGTC	0.607000													13	43					0	0	0.003163	0	0
ZBTB2	57621	broad.mit.edu	37	6	151686992	151686992	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:151686992G>A	ENST00000325144.4	-	3	1349	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GGGCAGCCTGGTTGGCCCTGC	0.512000													26	47					0	0	0.004656	0	0
PES1	23481	broad.mit.edu	37	22	30984049	30984049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:30984049G>A	ENST00000354694.6	-	3	323	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F	PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402281.1_5'UTR|PES1_ENST00000402284.3_Missense_Mutation_p.L73F|PES1_ENST00000335214.6_Missense_Mutation_p.L73F	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	73	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCGTGGAGGAGAAACCTGATG	0.478000													43	60					0	0	0.003214	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618190	111618190	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:111618190G>A	ENST00000374667.3	-	1	1049	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	7						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGGGGCATGGGGCTGTTCC	0.662000													17	23					0	0	0.007413	0	0
KIRREL	55243	broad.mit.edu	37	1	158047787	158047787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158047787C>T	ENST00000368173.3	+	3	613	c.209C>T	c.(208-210)cCa>cTa	p.P70L	KIRREL_ENST00000360089.4_Missense_Mutation_p.P9L|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000359209.6_Missense_Mutation_p.P70L|KIRREL_ENST00000392272.2_Missense_Mutation_p.P70L	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	70	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCAGCCTGGCCACGGTACCGG	0.592000													34	60					0	0	0.006230	0	0
SYN3	8224	broad.mit.edu	37	22	32909800	32909800	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:32909800G>C	ENST00000358763.2	-	14	1864	c.1622C>G	c.(1621-1623)tCc>tGc	p.S541C	SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.S541C	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	541	E.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTAGTCAGGGACTGAGATTT	0.537000													24	60					0	0	0.005443	0	0
OR5A1	219982	broad.mit.edu	37	11	59210723	59210723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:59210723G>A	ENST00000302030.2	+	1	107	c.82G>A	c.(82-84)Gcc>Acc	p.A28T		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AGAACTCCAGGCCCTCCTCTT	0.537000													57	52					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25514984	25514984	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:25514984C>T	ENST00000554726.1	+	0	47				SNORD115-48_ENST00000364764.1_RNA|SNHG14_ENST00000452731.1_RNA																							AAATTAAGTTCAGTTGGATTA	0.413000													15	19					0	0	0.007413	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017356	93017356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:93017356C>T	ENST00000523629.1	-	6	1182	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R254Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R216Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R243Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R216Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	243					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R206Q(1)|p.R254Q(1)|p.R243L(1)|p.R243Q(1)|p.R254L(1)|p.R206L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTGGAGTTCGCCTCTTCCC	0.522000													33	94					0	0	0.004289	0	0
HECW1	23072	broad.mit.edu	37	7	43484300	43484300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:43484300G>A	ENST00000395891.1	+	11	2134	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	HECW1_ENST00000453890.1_Missense_Mutation_p.G510E	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	510	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						gaggaggaggGAGATGTGTCT	0.637000													8	11					0	0	0.003080	0	0
TET1	80312	broad.mit.edu	37	10	70332852	70332852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:70332852C>T	ENST00000373644.4	+	2	966	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	253					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGCTCCTTTTCCCCAAAGAGC	0.448000													10	45					0	0	0.001855	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188434	140188434	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140188434C>T	ENST00000530339.1	+	1	1662	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	PCDHA4_ENST00000512229.2_Silent_p.F554F|PCDHA4_ENST00000356878.4_Silent_p.F554F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.667000													53	47					0	0	0.003610	0	0
ATP13A1	57130	broad.mit.edu	37	19	19763426	19763426	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:19763426T>C	ENST00000357324.6	-	16	2230	c.2204A>G	c.(2203-2205)gAg>gGg	p.E735G	ATP13A1_ENST00000291503.5_Missense_Mutation_p.E617G	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	735					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ATTCTGGATCTCCCGGATCAC	0.612000													4	9					0	0	0.000602	0	0
MAST4	375449	broad.mit.edu	37	5	66437978	66437978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:66437978C>T	ENST00000404260.3	+	20	2847	c.2539C>T	c.(2539-2541)Cgt>Tgt	p.R847C	MAST4_ENST00000405643.1_Missense_Mutation_p.R665C|MAST4_ENST00000403666.1_Missense_Mutation_p.R655C|MAST4_ENST00000261569.7_Missense_Mutation_p.R650C|MAST4_ENST00000403625.2_Missense_Mutation_p.R844C			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	847	AGC-kinase C-terminal.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCGATTCTTCCGTTCTTTAGA	0.428000													53	98					0	0	0.003610	0	0
BRF2	55290	broad.mit.edu	37	8	37702243	37702243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:37702243G>A	ENST00000220659.6	-	4	1145	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	342					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TAAACCTAAGGAATTATTTCC	0.622000													18	29					0	0	0.007413	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516390	140516390	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140516390C>T	ENST00000231134.5	+	1	1591	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		458	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGAGAGA	0.617000													62	82					0	0	0.003610	0	0
XIRP1	165904	broad.mit.edu	37	3	39227331	39227331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:39227331C>T	ENST00000340369.3	-	2	3834	c.3606G>A	c.(3604-3606)atG>atA	p.M1202I	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1202							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCCCCCAGGCCATCTGTGTGC	0.687000													14	37					0	0	0.004007	0	0
NXPE4	54827	broad.mit.edu	37	11	114450906	114450906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:114450906C>T	ENST00000375478.3	-	5	1227	c.1047G>A	c.(1045-1047)atG>atA	p.M349I	NXPE4_ENST00000424261.2_Missense_Mutation_p.M65I	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TGGAATCTCCCATTAGGTATA	0.438000													71	49					0	0	0.003610	0	0
KIF26A	26153	broad.mit.edu	37	14	104643552	104643552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:104643552C>T	ENST00000315264.7	+	11	4388	c.4010C>T	c.(4009-4011)cCa>cTa	p.P1337L	KIF26A_ENST00000423312.2_Missense_Mutation_p.P1476L			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1476					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACACACGGTCCAGCTCCCGCC	0.736000													8	10					0	0	0.004482	0	0
HTRA4	203100	broad.mit.edu	37	8	38839222	38839222	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:38839222C>T	ENST00000302495.4	+	6	1150	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	350	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			ATGGAATCTCCTTTGCAATTC	0.428000													36	84					0	0	0.005524	0	0
ZNF195	7748	broad.mit.edu	37	11	3380722	3380722	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:3380722A>C	ENST00000354599.6	-	4	1404	c.1300T>G	c.(1300-1302)Tta>Gta	p.L434V	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Missense_Mutation_p.L487V|ZNF195_ENST00000429541.2_Missense_Mutation_p.L438V|ZNF195_ENST00000399602.4_Missense_Mutation_p.L506V|ZNF195_ENST00000005082.9_Missense_Mutation_p.L483V|ZNF195_ENST00000343338.7_Missense_Mutation_p.L438V	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGTCTGATAACTGCTTAAAG	0.408000													53	101					0	0	0.003610	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331457	55331457	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55331457C>T	ENST00000391728.4	+	4	678	c.645C>T	c.(643-645)atC>atT	p.I215I	KIR3DL1_ENST00000326542.7_Silent_p.I215I|KIR3DL1_ENST00000358178.4_Silent_p.I120I|KIR3DL1_ENST00000541392.1_Silent_p.I215I|KIR3DL1_ENST00000538269.1_Silent_p.I215I|KIR3DL1_ENST00000402254.2_Silent_p.I215I	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCCTGGACATCGTGGTCACAG	0.527000													44	24					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82785564	82785564	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:82785564G>A	ENST00000423517.2	-	2	730	c.393C>T	c.(391-393)tcC>tcT	p.S131S	PCLO_ENST00000333891.8_Silent_p.S131S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	131					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCTAATAGTGGAAGGACTCC	0.478000													30	65					0	0	0.002836	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16535405	16535405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:16535405C>T	ENST00000270747.3	-	2	281	c.145G>A	c.(145-147)Gac>Aac	p.D49N	ARHGEF19_ENST00000421561.1_Missense_Mutation_p.D49N	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	49					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAAAAGGTCCAGACACACT	0.657000													17	26					0	0	0.007413	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454854	84454854	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:84454854C>T	ENST00000377084.2	-	1	1674	c.789G>A	c.(787-789)ttG>ttA	p.L263L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	263	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTCGGTTTTTCAAAGGACACA	0.557000													27	46					0	0	0.007291	0	0
CTHRC1	115908	broad.mit.edu	37	8	104388226	104388226	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:104388226G>A	ENST00000415886.2	+	2	518	c.411G>A	c.(409-411)aaG>aaA	p.K137K	CTHRC1_ENST00000330295.5_Intron|CTHRC1_ENST00000520337.1_Intron			Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	0						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			CAAGATTTAAGGGTTTTCATA	0.274000													4	11					0	0	0.000248	0	0
HTR1F	3355	broad.mit.edu	37	3	88040765	88040765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:88040765G>A	ENST00000319595.4	+	1	920	c.866G>A	c.(865-867)cGg>cAg	p.R289Q		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	289					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ACAAGAGAACGGAAAGCAGCC	0.378000													20	21					0	0	0.003330	0	0
OR8K3	219473	broad.mit.edu	37	11	56086403	56086403	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56086403G>A	ENST00000312711.1	+	1	621	c.621G>A	c.(619-621)ttG>ttA	p.L207L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CTATTGATTTGATTTCATCTC	0.363000													15	37					0	0	0.003163	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677649	37677649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:37677649G>A	ENST00000532828.2	-	5	1041	c.790C>T	c.(790-792)Cat>Tat	p.H264Y	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.H209Y|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCGCCTGTATGGATTTTCTGA	0.423000													78	118					0	0	0.003610	0	0
PALLD	23022	broad.mit.edu	37	4	169433541	169433541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:169433541G>A	ENST00000261509.6	+	2	1097	c.886G>A	c.(886-888)Gga>Aga	p.G296R	PALLD_ENST00000333488.4_Missense_Mutation_p.G173R|PALLD_ENST00000505667.1_Missense_Mutation_p.G296R|PALLD_ENST00000335742.7_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	296	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TAGAGTCACTGGAAACCCCAC	0.453000									Pancreatic Cancer, Familial Clustering of				14	30					0	0	0.003163	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100441971	100441971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:100441971G>A	ENST00000279907.7	-	18	3934	c.3722C>T	c.(3721-3723)tCc>tTc	p.S1241F	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S891F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1241										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTCTGATCGGAACCTAAGGA	0.318000													10	45					0	0	0.001368	0	0
BRDT	676	broad.mit.edu	37	1	92470044	92470044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:92470044C>T	ENST00000370389.2	+	17	3167	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F	BRDT_ENST00000394530.3_Missense_Mutation_p.S775F|BRDT_ENST00000362005.3_Missense_Mutation_p.S821F|BRDT_ENST00000399546.2_Missense_Mutation_p.S821F|BRDT_ENST00000402388.1_Missense_Mutation_p.S821F	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTAATGAAATCCTCAGATGAG	0.358000													46	70					0	0	0.003610	0	0
LRRC30	339291	broad.mit.edu	37	18	7231809	7231809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:7231809C>T	ENST00000383467.2	+	1	687	c.673C>T	c.(673-675)Ccg>Tcg	p.P225S		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	225										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCACTCCTTCCCGAGGTCGCT	0.582000													16	35					0	0	0.004007	0	0
CSMD3	114788	broad.mit.edu	37	8	113960050	113960050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:113960050C>T	ENST00000297405.5	-	9	1721	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E389K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E493K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E453K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	493	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCCATTTTCTGGTTCTCCT	0.299000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	45					0	0	0.001882	0	0
MROH8	140699	broad.mit.edu	37	20	35749321	35749321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:35749321C>T	ENST00000400441.3	-	16	2094	c.2095G>A	c.(2095-2097)Gga>Aga	p.G699R	MROH8_ENST00000217333.8_Missense_Mutation_p.G528R|MROH8_ENST00000441008.2_Missense_Mutation_p.G685R					maestro heat-like repeat family member 8																		AGAAATAGTCCCTGAAGATGG	0.433000													14	42					0	0	0.004990	0	0
NMBR	4829	broad.mit.edu	37	6	142409430	142409430	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:142409430G>A	ENST00000258042.1	-	1	506	c.366C>T	c.(364-366)atC>atT	p.I122I	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	122					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AAGTGAGCTGGATGACAGGGA	0.587000													22	32					0	0	0.002299	0	0
MACF1	23499	broad.mit.edu	37	1	39802074	39802074	+	Missense_Mutation	SNP	C	C	T	rs3116394		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:39802074C>T	ENST00000564288.1	+	37	10591	c.9814C>T	c.(9814-9816)Cca>Tca	p.P3272S	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P1712S|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.P3277S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P3309S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3277					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)			ATCCTTTCTTCCAGAGAAACT	0.428000													37	54					0	0	0.005524	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536471	27536471	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:27536471C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CTTGTCAGGCCCCTGCTCTAT	0.547000													4	19					0	0	0.000248	0	0
OBSCN	84033	broad.mit.edu	37	1	228466964	228466964	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:228466964C>T	ENST00000570156.2	+	32	8576	c.8502C>T	c.(8500-8502)ccC>ccT	p.P2834P	OBSCN_ENST00000359599.6_Silent_p.P1252P|OBSCN_ENST00000422127.1_Silent_p.P2405P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.P2405P|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1834	Ig-like 28.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTCCATCCCCTCAGTGCGGC	0.642000													38	56					0	0	0.005524	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492517	74492517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:74492517G>A	ENST00000354431.4	-	8	2046	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	619										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTCCATTGGGAACTTTAAAG	0.289000													22	40					0	0	0.005443	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147087	1147087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:1147087G>A	ENST00000379236.3	-	6	764	c.760C>T	c.(760-762)Cct>Tct	p.P254S		NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	254					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACTCACCAGGGGGCTTGTGG	0.697000													8	11					0	0	0.003080	0	0
LMO4	8543	broad.mit.edu	37	1	87805770	87805770	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:87805770G>T	ENST00000370544.5	+	4	1154	c.374G>T	c.(373-375)gGa>gTa	p.G125V	LMO4_ENST00000370542.1_Missense_Mutation_p.G125V|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	125	LIM zinc-binding 2.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		CTGGTCCCGGGAGATCGGTTT	0.413000													45	83					2.31418e-15	2.58448e-15	0.003610	1	0
IPO13	9670	broad.mit.edu	37	1	44433324	44433324	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:44433324C>T	ENST00000372343.3	+	20	3524	c.2862C>T	c.(2860-2862)ctC>ctT	p.L954L	IPO13_ENST00000372339.3_Silent_p.L172L	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	954					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCCGGGGTCTCCATGGCACAG	0.557000													11	31					0	0	0.000978	0	0
FAM98C	147965	broad.mit.edu	37	19	38893812	38893812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38893812G>A	ENST00000252530.5	+	1	38	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	FAM98C_ENST00000343358.7_Missense_Mutation_p.E7K|FAM98C_ENST00000588262.1_Missense_Mutation_p.E7K	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	7										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTGAAGGCGGAAGCGTGGGA	0.726000													10	20					0	0	0.008291	0	0
CADPS	8618	broad.mit.edu	37	3	62535633	62535633	+	Silent	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:62535633T>C	ENST00000383710.4	-	11	2260	c.1911A>G	c.(1909-1911)aaA>aaG	p.K637K	CADPS_ENST00000357948.3_Silent_p.K637K|CADPS_ENST00000283269.9_Silent_p.K637K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	637					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGGCGTTGAGTTTCTGGACTT	0.507000													53	78					0	0	0.003610	0	0
FLNC	2318	broad.mit.edu	37	7	128475585	128475585	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:128475585G>A	ENST00000325888.8	+	2	819	c.558G>A	c.(556-558)caG>caA	p.Q186Q	FLNC_ENST00000346177.6_Silent_p.Q186Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	186	Actin-binding.|CH 2.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGACTGGCAGGACGGCAAAG	0.627000													20	37					0	0	0.001523	0	0
CR1L	1379	broad.mit.edu	37	1	207874891	207874891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:207874891C>T	ENST00000508064.2	+	9	1316	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	419	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTCCAGTTCCAGTGAATGGC	0.443000													28	53					0	0	0.002836	0	0
AHNAK	79026	broad.mit.edu	37	11	62287735	62287735	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:62287735G>A	ENST00000378024.4	-	5	14428	c.14154C>T	c.(14152-14154)gcC>gcT	p.A4718A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4718					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGATCTTGGGGGCTTTGATGC	0.483000													50	160					0	0	0.003610	0	0
R3HDM2	22864	broad.mit.edu	37	12	57660556	57660556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57660556G>A	ENST00000402412.1	-	19	2479	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	R3HDM2_ENST00000393811.2_Missense_Mutation_p.P410S|R3HDM2_ENST00000347140.3_Missense_Mutation_p.P683S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P717S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P683S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P410S|R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P378S|RP11-123K3.4_ENST00000548184.1_RNA			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	683						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CAGGGAGAGGGAGACTGAGGC	0.547000													9	27					0	0	0.004482	0	0
OR1D4	653166	broad.mit.edu	37	17	3144402	3144402	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:3144402C>T	ENST00000531680.1	+	0	433					NR_033795.1				olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																		TGTCTTGCTCCTCTCCTTGTG	0.577000													6	7					0	0	0.003080	0	0
MYO5B	4645	broad.mit.edu	37	18	47480796	47480796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:47480796C>T	ENST00000285039.7	-	13	1854	c.1555G>A	c.(1555-1557)Gga>Aga	p.G519R		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	519	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGTCAGTTCCTTTGGGGACC	0.577000													27	36					0	0	0.005443	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363157	22363157	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:22363157G>A	ENST00000390438.2	+	0	416																											TCCACCTGACGAAACCCTCAG	0.507000													29	49					0	0	0.002445	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249238	90249238	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:90249238C>T	ENST00000468879.1	+	0	375																											CCAGCAAAAGCCCCTAAGCTC	0.502000													30	111					0	0	0.002445	0	0
RAD21	5885	broad.mit.edu	37	8	117874126	117874126	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:117874126A>G	ENST00000297338.2	-	4	615	c.328T>C	c.(328-330)Tta>Cta	p.L110L	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	110					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCTTCAGGTAAAGTAATGGCA	0.368000													48	102					0	0	0.003610	0	0
MAP3K19	80122	broad.mit.edu	37	2	135782196	135782196	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:135782196C>T	ENST00000375845.3	-	1	52	c.22_splice	c.e1+1	p.E8_splice	MAP3K19_ENST00000392917.3_Splice_Site_p.E8_splice|MAP3K19_ENST00000375844.3_Splice_Site_p.E8_splice|MAP3K19_ENST00000392918.3_Splice_Site_p.E8_splice|MAP3K19_ENST00000358371.4_Splice_Site_p.E8_splice	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		AAGTATTTACCTGGTTTTGGC	0.328000													19	89					0	0	0.002299	0	0
CASP7	840	broad.mit.edu	37	10	115481443	115481443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:115481443C>T	ENST00000369321.2	+	5	700	c.380C>T	c.(379-381)gCc>gTc	p.A127V	CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000452490.2_Missense_Mutation_p.A69V|CASP7_ENST00000369331.4_Missense_Mutation_p.A94V|CASP7_ENST00000369318.3_Missense_Mutation_p.A94V|CASP7_ENST00000369315.1_Missense_Mutation_p.A94V|CASP7_ENST00000345633.4_Missense_Mutation_p.A94V	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	94					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GACAAAGATGCCGAGGCGCTC	0.502000													18	77					0	0	0.001523	0	0
MERTK	10461	broad.mit.edu	37	2	112777026	112777026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:112777026G>A	ENST00000295408.4	+	16	2373	c.2116G>A	c.(2116-2118)Gat>Aat	p.D706N	MERTK_ENST00000409780.1_Missense_Mutation_p.D530N|MERTK_ENST00000421804.2_Missense_Mutation_p.D706N			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	706	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTTCATGGTGGATATTGCCCT	0.413000													69	73					0	0	0.003610	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179548090	179548090	+	Silent	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:179548090C>G	ENST00000393371.2	-	6	1070	c.774G>C	c.(772-774)ctG>ctC	p.L258L	RASGEF1C_ENST00000361132.4_Silent_p.L258L|RASGEF1C_ENST00000522500.1_Silent_p.L107L|RASGEF1C_ENST00000519883.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	258	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGTAGCACAGCCTGTTGA	0.582000													9	42					0	0	0.006214	0	0
ADCY8	114	broad.mit.edu	37	8	131916183	131916183	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:131916183G>A	ENST00000286355.5	-	7	3838	c.1746C>T	c.(1744-1746)atC>atT	p.I582I	ADCY8_ENST00000377928.3_Silent_p.I582I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	582					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTAAGTTTCGATATTATGCT	0.478000										HNSCC(32;0.087)			32	79					0	0	0.002096	0	0
TPD52L1	7164	broad.mit.edu	37	6	125550273	125550273	+	Missense_Mutation	SNP	G	G	A	rs139731274		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:125550273G>A	ENST00000534000.1	+	3	441	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	TPD52L1_ENST00000528193.1_Missense_Mutation_p.E49K|TPD52L1_ENST00000527711.1_Missense_Mutation_p.E49K|TPD52L1_ENST00000368402.5_Missense_Mutation_p.E49K|TPD52L1_ENST00000392482.2_Missense_Mutation_p.E20K|TPD52L1_ENST00000368388.2_Missense_Mutation_p.E49K|TPD52L1_ENST00000304877.13_Missense_Mutation_p.E49K|TPD52L1_ENST00000534199.1_Missense_Mutation_p.E20K|TPD52L1_ENST00000532429.1_Missense_Mutation_p.E20K|TPD52L1_ENST00000524679.1_Missense_Mutation_p.E20K	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	49					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GCTAGAAGACGAAATTACAAC	0.418000													17	17					0	0	0.007413	0	0
DNAH5	1767	broad.mit.edu	37	5	13793798	13793798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:13793798C>T	ENST00000265104.4	-	49	8154	c.8050G>A	c.(8050-8052)Gga>Aga	p.G2684R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2684	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATAGAATCCATTTTGTTCC	0.458000									Kartagener syndrome				31	82					0	0	0.001786	0	0
GPR50-AS1	100128688	broad.mit.edu	37	X	150345099	150345099	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:150345099C>T	ENST00000454196.1	-	0	541																											GGCACGCTTTCCTGGAGCTCC	0.582000													15	5					0	0	0.002450	0	0
DPYD	1806	broad.mit.edu	37	1	98039412	98039412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:98039412C>T	ENST00000370192.3	-	11	1343	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	415					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTCCAGTTTCATCTTGCTCT	0.438000													34	68					0	0	0.002836	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209218643	209218643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:209218643C>T	ENST00000264380.4	+	40	6024	c.5866C>T	c.(5866-5868)Ctt>Ttt	p.L1956F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1956	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GAAGGGCTCTCTTAGGAATCG	0.353000													27	34					0	0	0.005443	0	0
CALCR	799	broad.mit.edu	37	7	93090156	93090156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:93090156C>T	ENST00000359558.2	-	10	1026	c.727G>A	c.(727-729)Gga>Aga	p.G243R	CALCR_ENST00000394441.1_Missense_Mutation_p.G209R|CALCR_ENST00000426151.1_Missense_Mutation_p.G209R|CALCR_ENST00000421592.1_Missense_Mutation_p.G225R|CALCR_ENST00000360249.4_Missense_Mutation_p.G225R	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	225					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ACGAGCTCTCCATTGGGTACT	0.398000													27	69					0	0	0.006320	0	0
COL4A4	1286	broad.mit.edu	37	2	227917128	227917128	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:227917128C>T	ENST00000396625.3	-	32	3068	c.2860_splice	c.e32-1	p.G954_splice	COL4A4_ENST00000329662.7_Splice_Site_p.G954_splice	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	954	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTATGGCTCCTATGGATAT	0.423000													23	33					0	0	0.002780	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900216	151900216	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:151900216G>A	ENST00000393900.3	-	3	938	c.585C>T	c.(583-585)atC>atT	p.I195I	MAGEA12_ENST00000393869.3_Silent_p.I195I|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.I195I	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	195	MAGE.							p.I195I(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCACGATCTGATTGT	0.577000													48	78					0	0	0.003610	0	0
CYP2C18	1562	broad.mit.edu	37	10	96448013	96448013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:96448013G>A	ENST00000285979.6	+	3	662	c.463G>A	c.(463-465)Gag>Aag	p.E155K	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.E155K	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CCTTGTGGAGGAGTTGAGAAA	0.408000													23	89					0	0	0.003954	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94337726	94337726	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:94337726G>A	ENST00000436063.2	-	5	2026	c.1969C>T	c.(1969-1971)Ctg>Ttg	p.L657L		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCATTTTTCAGTTCATTTGTC	0.378000													78	136					0	0	0.003610	0	0
SLC25A37	51312	broad.mit.edu	37	8	23428980	23428980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:23428980C>T	ENST00000519973.1	+	4	827	c.629C>T	c.(628-630)cCc>cTc	p.P210L		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	210					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		ATGAACATCCCCTTCCAGTCC	0.612000													23	37					0	0	0.004656	0	0
LRP2	4036	broad.mit.edu	37	2	170115698	170115698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:170115698C>T	ENST00000263816.3	-	17	2635	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	LRP2_ENST00000443831.1_Missense_Mutation_p.E647K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	784					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCAACATTTTCCACCCTGTTA	0.338000													20	59					0	0	0.002299	0	0
IMPG1	3617	broad.mit.edu	37	6	76744366	76744366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:76744366G>A	ENST00000369963.3	-	2	395	c.206C>T	c.(205-207)tCc>tTc	p.S69F	IMPG1_ENST00000369950.3_Missense_Mutation_p.S147F			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	147					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTGCTCCTGGGAATTGCTGAA	0.527000													26	61					0	0	0.007291	0	0
CASQ2	845	broad.mit.edu	37	1	116311134	116311134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:116311134C>T	ENST00000261448.5	-	1	268	c.29G>A	c.(28-30)gGg>gAg	p.G10E	CASQ2_ENST00000456138.2_Missense_Mutation_p.G10E	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	10					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AAAATAAATCCCCACAATAAA	0.438000													15	25					0	0	0.004007	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249106304	249106304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:249106304G>A	ENST00000366472.5	-	7	2206	c.977C>T	c.(976-978)cCc>cTc	p.P326L	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.P294L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	326										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTCGGGGGCGGGGCCGGGCCC	0.711000													23	35					0	0	0.004656	0	0
FBXL16	146330	broad.mit.edu	37	16	746997	746997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:746997G>A	ENST00000397621.1	-	2	740	c.409C>T	c.(409-411)Ctc>Ttc	p.L137F	FBXL16_ENST00000324361.5_Missense_Mutation_p.L137F	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	137	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				ACCGGCGTGAGGCCTGCCCAG	0.632000													15	22					0	0	0.004007	0	0
ATL2	64225	broad.mit.edu	37	2	38527436	38527436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:38527436G>A	ENST00000378954.4	-	10	1107	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	ATL2_ENST00000406122.1_Missense_Mutation_p.P198L|ATL2_ENST00000539122.1_Missense_Mutation_p.P198L|ATL2_ENST00000546051.1_Missense_Mutation_p.P198L|ATL2_ENST00000452935.2_Missense_Mutation_p.P351L|ATL2_ENST00000419554.2_Missense_Mutation_p.P369L|ATL2_ENST00000332337.4_Missense_Mutation_p.P351L|ATL2_ENST00000402054.1_Missense_Mutation_p.P198L	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	369					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTTGGATGTGGAAGTTCTTC	0.373000													16	36					0	0	0.006122	0	0
DLK1	8788	broad.mit.edu	37	14	101198519	101198519	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:101198519G>A	ENST00000341267.4	+	4	645	c.404_splice	c.e4+1	p.G135_splice	DLK1_ENST00000331224.6_Splice_Site_p.G135_splice	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	135	EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TGTGATCAACGGGTAAATATC	0.542000													22	49					0	0	0.005443	0	0
SLC22A3	6581	broad.mit.edu	37	6	160828194	160828194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:160828194G>A	ENST00000392145.1	+	3	682	c.655G>A	c.(655-657)Gga>Aga	p.G219R	SLC22A3_ENST00000275300.2_Missense_Mutation_p.G219R			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	219						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		AGGTGTATTTGGAAAGGGGAC	0.478000													48	105					0	0	0.003610	0	0
ZYX	7791	broad.mit.edu	37	7	143079436	143079436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143079436G>A	ENST00000322764.5	+	3	649	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Missense_Mutation_p.E46K	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	102	Pro-rich.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CCCGATCGAGGAATCATTTCC	0.697000													17	15					0	0	0.006122	0	0
CCDC7	221016	broad.mit.edu	37	10	32742280	32742280	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:32742280C>T	ENST00000545067.1	+	3	584	c.288C>T	c.(286-288)tcC>tcT	p.S96S	CCDC7_ENST00000535327.1_Silent_p.S96S|CCDC7_ENST00000277657.6_Silent_p.S96S|CCDC7_ENST00000362006.5_Silent_p.S96S|CCDC7_ENST00000539197.1_Silent_p.S96S|CCDC7_ENST00000537047.1_Silent_p.S96S			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	96										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AGGTTGTTTCCACTTTGGAAG	0.269000													29	43					0	0	0.002445	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027988	150027988	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150027988G>A	ENST00000343855.4	+	1	1051	c.495G>A	c.(493-495)agG>agA	p.R165R	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		TGGCCCAGAGGGAGAAGGGCT	0.652000													11	11					0	0	0.001855	0	0
RGPD4	285190	broad.mit.edu	37	2	108487252	108487252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:108487252G>A	ENST00000408999.3	+	20	2869	c.2792G>A	c.(2791-2793)gGa>gAa	p.G931E	RGPD4_ENST00000354986.4_Missense_Mutation_p.G931E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	931					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCGGAACCAGGAAATCAAGAA	0.408000													113	142					0	0	0.003610	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140795153	140795153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140795153C>T	ENST00000398610.2	+	1	2411	c.2411C>T	c.(2410-2412)cCt>cTt	p.P804L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAAGTTTCCTATAGAGGAT	0.393000													7	33					0	0	0.001984	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616716	77616716	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:77616716C>T	ENST00000521891.2	+	2	841	c.393C>T	c.(391-393)atC>atT	p.I131I	ZFHX4_ENST00000518282.1_Silent_p.I131I|ZFHX4_ENST00000050961.6_Silent_p.I131I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.I131I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	131						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I131I(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGGGGAGATCGTTTACCAGC	0.493000										HNSCC(33;0.089)			25	57					0	0	0.003954	0	0
DOCK5	80005	broad.mit.edu	37	8	25156535	25156535	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:25156535T>C	ENST00000276440.7	+	8	726	c.682T>C	c.(682-684)Ttc>Ctc	p.F228L	DOCK5_ENST00000481100.1_Missense_Mutation_p.F228L	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	228						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTATGTGAACTTCAAGAACTT	0.488000													5	26					0	0	0.000602	0	0
OGDH	4967	broad.mit.edu	37	7	44734097	44734097	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:44734097C>T	ENST00000222673.5	+	12	1632	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	OGDH_ENST00000444676.1_Silent_p.I545I|OGDH_ENST00000439616.2_Silent_p.I380I|OGDH_ENST00000543843.1_Silent_p.I481I|OGDH_ENST00000449767.1_Silent_p.I526I|OGDH_ENST00000447398.1_Silent_p.I541I	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	530					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACAAGCAGATCCGCAAGCAGA	0.572000													19	45					0	0	0.007413	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869589	36869589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:36869589G>A	ENST00000279024.4	-	3	1215	c.944C>T	c.(943-945)cCc>cTc	p.P315L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	315										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTGAAATAAGGGAGTTTCCTT	0.522000													69	145					0	0	0.003610	0	0
MTOR	2475	broad.mit.edu	37	1	11187187	11187187	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:11187187A>T	ENST00000361445.4	-	45	6307	c.6231T>A	c.(6229-6231)gaT>gaA	p.D2077E	MTOR_ENST00000376838.1_Missense_Mutation_p.D282E	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2077					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCTCCATTAAATCTCGACCAT	0.488000													19	43					0	0	0.008871	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991400	52991400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:52991400G>A	ENST00000371544.3	-	2	815	c.553C>T	c.(553-555)Cca>Tca	p.P185S	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P185S|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.P185S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	185					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AAGGAGCTTGGAATTTTTTTT	0.408000													95	151					0	0	0.003610	0	0
ZNF676	163223	broad.mit.edu	37	19	22362772	22362772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:22362772G>A	ENST00000397121.2	-	3	2064	c.1747C>T	c.(1747-1749)Cat>Tat	p.H583Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGTATGAATTTTCTTA	0.343000													12	28					0	0	0.000978	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218372	130218372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:130218372G>A	ENST00000276211.5	+	5	1084	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.E235K|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.E111K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	247	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCAATTCATTGAAAAACATGG	0.478000													16	11					0	0	0.004007	0	0
NWD1	284434	broad.mit.edu	37	19	16910856	16910856	+	Missense_Mutation	SNP	G	G	A	rs141442968		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:16910856G>A	ENST00000524140.2	+	17	4037	c.3619G>A	c.(3619-3621)Gtg>Atg	p.V1207M	NWD1_ENST00000339803.6_Missense_Mutation_p.V1072M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1207M|NWD1_ENST00000549814.1_Missense_Mutation_p.V1165M|NWD1_ENST00000523826.1_Missense_Mutation_p.V1001M|NWD1_ENST00000552788.1_Missense_Mutation_p.V1207M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1207							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TAGGTCCCGGGTGCCTGCACC	0.577000													20	31					0	0	0.008871	0	0
OR52B2	255725	broad.mit.edu	37	11	6191050	6191050	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6191050G>A	ENST00000530810.1	-	1	588	c.507C>T	c.(505-507)ccC>ccT	p.P169P	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAGGCAGAAGGGCAGCCGCT	0.502000													15	39					0	0	0.002450	0	0
FSIP2	401024	broad.mit.edu	37	2	186672204	186672204	+	Silent	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:186672204A>C	ENST00000343098.5	+	17	18438	c.18438A>C	c.(18436-18438)acA>acC	p.T6146T	FSIP2_ENST00000424728.1_Silent_p.T6057T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAGTTGCAACAGAGATCTCCC	0.323000													63	93					0	0	0.003610	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65288687	65288687	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:65288687C>T	ENST00000284037.5	+	3	530	c.141C>T	c.(139-141)acC>acT	p.T47T	ERBB2IP_ENST00000380938.2_Silent_p.T47T|ERBB2IP_ENST00000511297.1_Silent_p.T47T|ERBB2IP_ENST00000380935.1_Silent_p.T47T|ERBB2IP_ENST00000416865.2_Silent_p.T47T|ERBB2IP_ENST00000506030.1_Silent_p.T47T|ERBB2IP_ENST00000380943.2_Silent_p.T47T|ERBB2IP_ENST00000380939.2_Silent_p.T47T|ERBB2IP_ENST00000380936.1_Silent_p.T47T|ERBB2IP_ENST00000508515.1_Silent_p.T47T	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	47					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTGAAAAAACCTTGGAGGAAC	0.353000													14	33					0	0	0.002450	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831317	131831317	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:131831317C>T	ENST00000359827.3	-	28	5969	c.5007G>A	c.(5005-5007)ggG>ggA	p.G1669G	PLXNA4_ENST00000321063.4_Silent_p.G1669G			Q9HCM2	PLXA4_HUMAN	plexin A4	1669						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCATCTTGCTCCCCCGGTCCC	0.572000													111	202					0	0	0.003610	0	0
MAPT	4137	broad.mit.edu	37	17	44061192	44061192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:44061192C>T	ENST00000344290.5	+	6	1344	c.1022C>T	c.(1021-1023)tCt>tTt	p.S341F	MAPT_ENST00000420682.2_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.S341F|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.S341F|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.S341F	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	341					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CGGGGCCCCTCTTTGGGAGAG	0.652000													34	61					0	0	0.003271	0	0
GGT7	2686	broad.mit.edu	37	20	33442402	33442402	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:33442402G>A	ENST00000336431.5	-	10	1295	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	417					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGCTGGCCAGGGCTAATGCAA	0.552000													9	15					0	0	0.004482	0	0
PABPC1L	80336	broad.mit.edu	37	20	43545459	43545459	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:43545459C>T	ENST00000255136.3	+	3	532	c.450C>T	c.(448-450)gcC>gcT	p.A150A	PABPC1L_ENST00000217074.4_Silent_p.A150A|PABPC1L_ENST00000217073.2_Silent_p.A150A|PABPC1L_ENST00000537323.1_Silent_p.A150A	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	150	RRM 2.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCCATGAGGCCGCACAGCAGG	0.607000													36	135					0	0	0.006230	0	0
SERPINA6	866	broad.mit.edu	37	14	94770800	94770800	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:94770800G>A	ENST00000341584.3	-	5	1319	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	391					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGCTCCAGGTGAAGTGGTCGA	0.547000													15	61					0	0	0.003163	0	0
SCN11A	11280	broad.mit.edu	37	3	38888901	38888901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:38888901C>T	ENST00000302328.3	-	26	4858	c.4660G>A	c.(4660-4662)Gat>Aat	p.D1554N	SCN11A_ENST00000456224.3_Missense_Mutation_p.D1516N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D1554N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1554					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGCAGGGAATCCCAACCTGCT	0.468000													8	63					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179635288	179635288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179635288C>T	ENST00000589042.1	-	35	8455	c.8231G>A	c.(8230-8232)gGa>gAa	p.G2744E	TTN_ENST00000359218.5_Missense_Mutation_p.G2698E|TTN_ENST00000342175.6_Missense_Mutation_p.G2698E|TTN_ENST00000360870.5_Missense_Mutation_p.G2744E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2744E|TTN_ENST00000342992.6_Missense_Mutation_p.G2744E|TTN_ENST00000460472.2_Missense_Mutation_p.G2698E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2482							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)			CAGCACAACTCCATTTTTGAT	0.413000													18	63					0	0	0.001523	0	0
NLRP11	204801	broad.mit.edu	37	19	56303782	56303782	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56303782G>A	ENST00000443188.1	-	9	3108	c.2398C>T	c.(2398-2400)Ctg>Ttg	p.L800L	NLRP11_ENST00000589824.2_Silent_p.L746L|NLRP11_ENST00000592953.1_Silent_p.L701L|NLRP11_ENST00000360133.3_Silent_p.L746L|NLRP11_ENST00000589093.1_Silent_p.L800L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	800							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGGCTGAACAGAAGCACTCTT	0.478000													39	64					0	0	0.005524	0	0
PELO	53918	broad.mit.edu	37	5	52096558	52096558	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:52096558C>T	ENST00000274311.2	+	2	1315	c.330C>T	c.(328-330)ttC>ttT	p.F110F	ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	110					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				ACCGCCAGTTCACCCTGGCCA	0.597000													26	39					0	0	0.004656	0	0
PRODH2	58510	broad.mit.edu	37	19	36293158	36293158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:36293158G>A	ENST00000301175.3	-	10	1378	c.1361C>T	c.(1360-1362)cCt>cTt	p.P454L		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	454					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCATCCAGAGGAATGCCCAG	0.547000													39	79					0	0	0.008740	0	0
GGT5	2687	broad.mit.edu	37	22	24622120	24622120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:24622120C>T	ENST00000327365.4	-	8	1569	c.1153G>A	c.(1153-1155)Ggg>Agg	p.G385R	GGT5_ENST00000418439.2_Missense_Mutation_p.G308R|GGT5_ENST00000398292.3_Missense_Mutation_p.G385R|GGT5_ENST00000263112.7_Missense_Mutation_p.G353R	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	385					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GTGCCTGTCCCGTGGCCCCAG	0.692000													9	19					0	0	0.000978	0	0
DSG1	1828	broad.mit.edu	37	18	28914104	28914104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:28914104G>A	ENST00000257192.4	+	8	1156	c.944G>A	c.(943-945)gGa>gAa	p.G315E		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	315	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGAAATGAAGGAAATTGGTTT	0.299000													47	46					0	0	0.003610	0	0
BCAS4	55653	broad.mit.edu	37	20	49458428	49458428	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:49458428C>T	ENST00000358791.5	+	4	580	c.480C>T	c.(478-480)tcC>tcT	p.S160S	BCAS4_ENST00000262591.5_Intron|BCAS4_ENST00000371608.2_Silent_p.S160S	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	160						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						GGCTCCCCTCCTTCAGGAACG	0.667000													14	11					0	0	0.003163	0	0
CLCN1	1180	broad.mit.edu	37	7	143018932	143018932	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143018932G>A	ENST00000343257.2	+	5	774	c.687G>A	c.(685-687)gtG>gtA	p.V229V	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	229					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCATCCCCGTGGGGAAAGAGG	0.602000													20	25					0	0	0.001523	0	0
SCN9A	6335	broad.mit.edu	37	2	167134678	167134678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:167134678C>T	ENST00000303354.6	-	15	2832	c.2492G>A	c.(2491-2493)gGa>gAa	p.G831E	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.G831E|SCN9A_ENST00000409672.1_Missense_Mutation_p.G819E|SCN9A_ENST00000409435.1_Missense_Mutation_p.G830E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	830						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACTGACAATCCTTCCACATC	0.353000													10	45					0	0	0.000978	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152399	133152399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:133152399C>T	ENST00000388996.4	-	11	1912	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	KCNQ3_ENST00000521134.1_Missense_Mutation_p.E378K|KCNQ3_ENST00000519445.1_Missense_Mutation_p.E498K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	498					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCCTGTCTTCCGCCATGGGG	0.612000													11	35					0	0	0.001368	0	0
TM9SF3	56889	broad.mit.edu	37	10	98325103	98325103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:98325103G>A	ENST00000371142.4	-	3	595	c.379C>T	c.(379-381)Cat>Tat	p.H127Y		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	127						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TACCAGTAATGATTTTTTATG	0.299000													38	133					0	0	0.004878	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269605	150269605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150269605G>A	ENST00000255945.2	+	3	622	c.447G>A	c.(445-447)atG>atA	p.M149I	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.M163I	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	149							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGTTTCATGATTCTCATAT	0.453000													26	38					0	0	0.003954	0	0
OR5P2	120065	broad.mit.edu	37	11	7817686	7817686	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7817686C>T	ENST00000329434.2	-	1	834	c.804G>A	c.(802-804)aaG>aaA	p.K268K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGACACCACCTTGTTCTGGT	0.488000													22	59					0	0	0.001523	0	0
MXRA5	25878	broad.mit.edu	37	X	3227926	3227926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:3227926G>A	ENST00000217939.6	-	7	8472	c.8318C>T	c.(8317-8319)tCg>tTg	p.S2773L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2773	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCAGATGCGACTTATCCGG	0.562000													23	13					0	0	0.006320	0	0
SLIT2	9353	broad.mit.edu	37	4	20591326	20591326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:20591326G>A	ENST00000504154.1	+	30	3400	c.3148G>A	c.(3148-3150)Gat>Aat	p.D1050N	SLIT2_ENST00000273739.5_Missense_Mutation_p.D1063N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1042N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D1046N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1050	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGCCAGCACGATTCAAAGTG	0.483000													15	28					0	0	0.006122	0	0
LAMA5	3911	broad.mit.edu	37	20	60907633	60907633	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:60907633G>A	ENST00000252999.3	-	27	3489	c.3423C>T	c.(3421-3423)tcC>tcT	p.S1141S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1141	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGGTGCAGGGAGAGCAGCC	0.711000													6	4					0	0	0.001984	0	0
CATSPER3	347732	broad.mit.edu	37	5	134344644	134344644	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:134344644C>T	ENST00000282611.6	+	5	875	c.789C>T	c.(787-789)ttC>ttT	p.F263F		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	263					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAACATGTTCGTGGGTGTGA	0.542000													32	47					0	0	0.002096	0	0
MKNK1	8569	broad.mit.edu	37	1	47034134	47034134	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47034134A>C	ENST00000371946.4	-	9	816	c.653T>G	c.(652-654)tTg>tGg	p.L218W	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000341183.5_Missense_Mutation_p.L177W|MKNK1_ENST00000371944.4_Missense_Mutation_p.L82W|MKNK1_ENST00000428112.2_Missense_Mutation_p.L177W|MKNK1_ENST00000371945.4_Missense_Mutation_p.L177W	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	218	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					AGATTCACACAATATATTTTC	0.383000													30	34					0	0	0.003271	0	0
LPHN3	23284	broad.mit.edu	37	4	62775413	62775413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:62775413C>T	ENST00000512091.1	+	11	2566	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	LPHN3_ENST00000514996.1_Missense_Mutation_p.R607W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R675W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R607W|LPHN3_ENST00000514591.1_Missense_Mutation_p.R607W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R675W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R675W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R607W|LPHN3_ENST00000506700.1_Missense_Mutation_p.R607W|LPHN3_ENST00000508946.1_Missense_Mutation_p.R607W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R675W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R675W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R675W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R675W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R607W			Q9HAR2	LPHN3_HUMAN	latrophilin 3	607					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R607W(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTACAGCTTCGGAACTTGAC	0.512000													3	8					0	0	0.004672	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31121356	31121356	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:31121356C>T	ENST00000304166.4	+	6	604	c.315C>T	c.(313-315)tcC>tcT	p.S105S	ADCYAP1R1_ENST00000409489.1_Silent_p.S105S|ADCYAP1R1_ENST00000396211.2_Silent_p.S105S|ADCYAP1R1_ENST00000409363.1_Intron	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	105					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACAGTAACTCCTTAGATCTCT	0.493000													30	56					0	0	0.002445	0	0
OTOGL	283310	broad.mit.edu	37	12	80696435	80696435	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:80696435G>A	ENST00000458043.2	+	27	3064	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	OTOGL_ENST00000547103.1_Missense_Mutation_p.E1020K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTTTTTCTGGAAAACAAATC	0.294000													3	6					0	0	0.004672	0	0
HDC	3067	broad.mit.edu	37	15	50540490	50540490	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:50540490G>A	ENST00000267845.3	-	10	1494	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	364					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACCGAATCACGAACCAGAGTT	0.522000													16	21					0	0	0.008871	0	0
OR10K1	391109	broad.mit.edu	37	1	158435686	158435686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158435686C>T	ENST00000289451.2	+	1	415	c.335C>T	c.(334-336)tCc>tTc	p.S112F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTCTCACTCCTTCCTGCTG	0.522000													55	108					0	0	0.003610	0	0
NNMT	4837	broad.mit.edu	37	11	114183152	114183152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:114183152G>A	ENST00000535401.1	+	5	1012	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	NNMT_ENST00000541754.1_Missense_Mutation_p.E55K|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_Missense_Mutation_p.E55K|NNMT_ENST00000542647.1_Missense_Mutation_p.E55K|NNMT_ENST00000299964.3_Missense_Mutation_p.E250K			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	250					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGCCAACAACGAAGGACTTTT	0.512000													53	31					0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139164304	139164304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:139164304C>T	ENST00000395297.1	-	13	2584	c.2414G>A	c.(2413-2415)aGc>aAc	p.S805N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	805										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGAACCTTGGCTCTTGCTGTG	0.522000										HNSCC(54;0.14)			21	73					0	0	0.008871	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336690	30336690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:30336690C>T	ENST00000375377.1	-	2	153	c.52G>A	c.(52-54)Gac>Aac	p.D18N		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	18										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCTGGGGGGTCTCTTGACAGC	0.597000													34	38					0	0	0.003271	0	0
USP29	57663	broad.mit.edu	37	19	57642699	57642699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57642699G>A	ENST00000254181.4	+	4	3110	c.2656G>A	c.(2656-2658)Ggg>Agg	p.G886R	USP29_ENST00000598197.1_Missense_Mutation_p.G886R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	886					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATGCACAATGGGATTTTTGA	0.463000													21	43					0	0	0.008871	0	0
ZNF836	162962	broad.mit.edu	37	19	52660188	52660188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52660188C>T	ENST00000322146.8	-	5	1269	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	ZNF836_ENST00000597252.1_Missense_Mutation_p.E250K|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTGCCACATTCATTGCATTTG	0.408000													24	40					0	0	0.004656	0	0
TRIM36	55521	broad.mit.edu	37	5	114469656	114469656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:114469656C>T	ENST00000513154.1	-	8	1725	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	TRIM36_ENST00000282369.3_Missense_Mutation_p.E479K|TRIM36_ENST00000514154.1_Missense_Mutation_p.E324K			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	479	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTACTGTTTTCCAAGTCTTGA	0.378000													17	63					0	0	0.006122	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077106	45077106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:45077106C>T	ENST00000296130.4	+	3	479	c.299C>T	c.(298-300)tCg>tTg	p.S100L	CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Missense_Mutation_p.S58L	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	100	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTGCATCTCGCGCGGGGGC	0.637000													18	38					0	0	0.006122	0	0
GPR111	222611	broad.mit.edu	37	6	47649948	47649948	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:47649948C>T	ENST00000398742.2	+	5	1498	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	GPR111_ENST00000507065.1_Silent_p.F483F|GPR111_ENST00000296862.1_Silent_p.F551F			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	551					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGATTGTTTTCCATACCTTGC	0.463000													25	52					0	0	0.006320	0	0
STAB2	55576	broad.mit.edu	37	12	104157375	104157375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:104157375G>A	ENST00000388887.2	+	68	7798	c.7594G>A	c.(7594-7596)Gac>Aac	p.D2532N	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2532					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCTTCCTACGACCCCTTCAC	0.478000													66	146					0	0	0.003610	0	0
ARMC2	84071	broad.mit.edu	37	6	109274371	109274371	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:109274371C>T	ENST00000392644.4	+	13	1900	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L	ARMC2_ENST00000368972.3_Silent_p.L413L	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	578							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCAGCTGGATCTGCATTCCCA	0.552000													25	41					0	0	0.004656	0	0
CACNA1S	779	broad.mit.edu	37	1	201029892	201029892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:201029892G>A	ENST00000362061.3	-	26	3534	c.3308C>T	c.(3307-3309)cCc>cTc	p.P1103L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1103L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1103					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGGTTTTTGGGAATGTAGCA	0.537000													105	170					0	0	0.003610	0	0
SCEL	8796	broad.mit.edu	37	13	78130048	78130048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:78130048G>A	ENST00000535157.1	+	2	208	c.38G>A	c.(37-39)gGa>gAa	p.G13E	SCEL_ENST00000377246.3_Missense_Mutation_p.G13E|SCEL_ENST00000349847.3_Missense_Mutation_p.G13E	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	13					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TCTCCCACAGGAAATGGTAAT	0.348000													26	51					0	0	0.002096	0	0
CRYGA	1418	broad.mit.edu	37	2	209025546	209025546	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:209025546C>T	ENST00000304502.4	-	3	526	c.507G>A	c.(505-507)cgG>cgA	p.R169R		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		AATCGGTGACCCGTCTCAAAG	0.517000													26	54					0	0	0.004656	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174219	150174219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150174219G>A	ENST00000307271.3	+	5	1923	c.1349G>A	c.(1348-1350)gGg>gAg	p.G450E		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	450						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGCGGGACTGGGAAGAGTGCG	0.552000													32	68					0	0	0.004878	0	0
GDF2	2658	broad.mit.edu	37	10	48416410	48416410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:48416410C>T	ENST00000249598.1	-	1	443	c.284G>A	c.(283-285)aGg>aAg	p.R95K		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	95					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGACGTGTACCTGTTGTACAG	0.582000													32	34					0	0	0.003271	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101448317	101448317	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:101448317C>T	ENST00000554693.2	+	0	635				SNORD114-21_ENST00000606412.1_RNA																							ATTCCTGGATCAATGATGACC	0.383000													26	46					0	0	0.005443	0	0
COL3A1	1281	broad.mit.edu	37	2	189849944	189849944	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:189849944C>T	ENST00000304636.3	+	3	474	c.304C>T	c.(304-306)Caa>Taa	p.Q102*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.Q102*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	102					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTAATGGTCAAGGACCTCA	0.348000													23	30					0	0	0.002445	0	0
TMEM57	55219	broad.mit.edu	37	1	25824873	25824873	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:25824873C>T	ENST00000374343.4	+	11	2090	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	TMEM57_ENST00000399766.3_Silent_p.S410S|TMEM57_ENST00000399763.3_Silent_p.S279S	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	637						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCTGTTTCCCCCCACTACT	0.532000													37	74					0	0	0.006230	0	0
ALAD	210	broad.mit.edu	37	9	116154442	116154442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:116154442G>A	ENST00000409155.3	-	3	317	c.121C>T	c.(121-123)Cct>Tct	p.P41S	ALAD_ENST00000482001.1_5'UTR|ALAD_ENST00000277315.5_Intron	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	41					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	ATGTCATCAGGAACATCCCTG	0.612000													15	13					0	0	0.003163	0	0
VANGL2	57216	broad.mit.edu	37	1	160389330	160389330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:160389330C>T	ENST00000368061.2	+	4	1205	c.731C>T	c.(730-732)cCt>cTt	p.P244L	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	244					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGCTCCAGCCTCAGTTCACG	0.642000													20	35					0	0	0.001882	0	0
SOCS4	122809	broad.mit.edu	37	14	55510448	55510448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:55510448C>T	ENST00000395472.2	+	2	1021	c.689C>T	c.(688-690)tCc>tTc	p.S230F	SOCS4_ENST00000555846.1_Missense_Mutation_p.S230F|SOCS4_ENST00000339298.2_Missense_Mutation_p.S230F	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	230					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GATATGGATTCCGATGATGAA	0.393000													17	39					0	0	0.004007	0	0
AE000661.37	0	broad.mit.edu	37	14	22934777	22934777	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:22934777G>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA																							AGGGATAGAAGGATATAAAAA	0.368000													16	34					0	0	0.003163	0	0
EPHA4	2043	broad.mit.edu	37	2	222294725	222294725	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:222294725G>A	ENST00000281821.2	-	15	2684	c.2643C>T	c.(2641-2643)ctC>ctT	p.L881L	EPHA4_ENST00000409938.1_Silent_p.L881L|EPHA4_ENST00000409854.1_Silent_p.L881L|EPHA4_ENST00000392071.4_Silent_p.L830L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	881	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTTGCGGATGAGTTTGTCCA	0.512000													71	87					0	0	0.003610	0	0
ELMO1	9844	broad.mit.edu	37	7	37355536	37355536	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:37355536T>A	ENST00000310758.4	-	3	754	c.107A>T	c.(106-108)gAa>gTa	p.E36V	ELMO1_ENST00000442504.1_Missense_Mutation_p.E36V|ELMO1_ENST00000448602.1_Missense_Mutation_p.E36V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	36					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						ATCACAGACTTCCTTTATTAT	0.279000													39	244					0	0	0.002852	0	0
SCG3	29106	broad.mit.edu	37	15	51993416	51993416	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:51993416A>G	ENST00000220478.3	+	10	1585	c.1182A>G	c.(1180-1182)ccA>ccG	p.P394P	SCG3_ENST00000542355.2_Silent_p.P162P	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	394					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ACTCCAACCCAGGAGGAAAGA	0.433000													25	54					0	0	0.003954	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991338	35991338	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:35991338A>G	ENST00000274278.3	-	1	362	c.5T>C	c.(4-6)gTt>gCt	p.V2A	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.V2A|UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.V2A	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	2						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCGCTGCCCAACCATGCTCAC	0.597000													31	54					0	0	0.002096	0	0
C10orf12	26148	broad.mit.edu	37	10	98743264	98743264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:98743264C>T	ENST00000286067.2	+	1	2224	c.2117C>T	c.(2116-2118)tCg>tTg	p.S706L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	706										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTTGGGTTGTCGAGTAGTGGA	0.507000													31	42					0	0	0.002836	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407308	38407308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:38407308C>T	ENST00000351773.3	+	8	2059	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	ZNF37A_ENST00000361085.4_Missense_Mutation_p.P410L	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	410						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						GGTGAAAAACCTTATGAATGT	0.393000													12	15					0	0	0.000978	0	0
ZAN	7455	broad.mit.edu	37	7	100349900	100349900	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100349900C>T	ENST00000542585.1	+	0	2320				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGAAAAACCCACCATCCCCA	0.512000													18	31					0	0	0.008871	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465421	77465421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:77465421G>A	ENST00000282849.5	-	3	684	c.266C>T	c.(265-267)tCg>tTg	p.S89L	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	89					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTCTGCGCCGATCGCTTTTT	0.478000													57	179					0	0	0.003610	0	0
OR51B5	282763	broad.mit.edu	37	11	5364701	5364701	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5364701C>T	ENST00000300773.2	-	1	108	c.54G>A	c.(52-54)ttG>ttA	p.L18L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCTTCCTCCAAGCCTGGAA	0.428000													20	33					0	0	0.002299	0	0
TRIM24	8805	broad.mit.edu	37	7	138263977	138263977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:138263977C>T	ENST00000343526.4	+	15	2500	c.2285C>T	c.(2284-2286)tCc>tTc	p.S762F	TRIM24_ENST00000415680.2_Missense_Mutation_p.S728F			O15164	TIF1A_HUMAN	tripartite motif containing 24	762	Nuclear receptor binding site (NRBS).		S -> N.		cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ATACTCACCTCCCTGCTCTTA	0.393000													37	78					0	0	0.004878	0	0
CELSR2	1952	broad.mit.edu	37	1	109803663	109803663	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:109803663G>A	ENST00000271332.3	+	3	4019		c.e3-1			NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2						dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCTTGTCCAGGTGAGCACTG	0.607000													102	54					0	0	0.003610	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794020	21794020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21794020G>A	ENST00000206660.6	+	16	2398	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E159K|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E800K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E762K|RPGRIP1_ENST00000556336.1_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	800					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ACCTCAGAACGAGCTGTGGAT	0.502000													10	22					0	0	0.006214	0	0
DCHS1	8642	broad.mit.edu	37	11	6651133	6651133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6651133G>A	ENST00000299441.3	-	11	5216	c.4805C>T	c.(4804-4806)tCc>tTc	p.S1602F		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1602	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGCACCACGGACAGCGCTCC	0.652000													9	44					0	0	0.006214	0	0
CDH20	28316	broad.mit.edu	37	18	59157870	59157870	+	Silent	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:59157870T>A	ENST00000262717.4	+	2	482	c.84T>A	c.(82-84)ctT>ctA	p.L28L	CDH20_ENST00000536675.2_Silent_p.L28L|CDH20_ENST00000538374.1_Silent_p.L28L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	28					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGATGGACCTTACGACCACCG	0.527000													35	32					0	0	0.002836	0	0
PIPSL	266971	broad.mit.edu	37	10	95721216	95721216	+	RNA	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:95721216A>C	ENST00000480546.1	-	0	81					NR_002319.2																						TCAACGGAGAAAAACCGACCG	0.602000													12	54					0	0	0.001368	0	0
COL5A1	1289	broad.mit.edu	37	9	137717665	137717665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:137717665G>A	ENST00000371817.3	+	63	5396	c.4982G>A	c.(4981-4983)gGa>gAa	p.G1661E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1661	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTAACCAAGGATGCTCCAGG	0.562000													26	11					0	0	0.002445	0	0
UNC13C	440279	broad.mit.edu	37	15	54707217	54707217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:54707217G>A	ENST00000545554.1	+	18	4885	c.4885G>A	c.(4885-4887)Gaa>Aaa	p.E1629K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E1627K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E1629K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1629					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATAAGTGCCGAAATTATGTG	0.308000													27	31					0	0	0.007291	0	0
DGKI	9162	broad.mit.edu	37	7	137284650	137284650	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:137284650C>A	ENST00000453654.1	-	11	808	c.267_splice	c.e11-1	p.G90_splice	DGKI_ENST00000288490.5_Splice_Site_p.G390_splice|DGKI_ENST00000446122.1_Splice_Site_p.G390_splice|DGKI_ENST00000424189.2_Splice_Site_p.G390_splice			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	390					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GACTTTGGTTCCCTGTAAAAA	0.333000													21	26					4.96729e-08	5.50298e-08	0.008871	1	0
WT1	7490	broad.mit.edu	37	11	32456300	32456300	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:32456300T>A	ENST00000332351.3	-	1	876	c.592A>T	c.(592-594)Aac>Tac	p.N198Y	WT1_ENST00000448076.3_Missense_Mutation_p.N198Y	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	130					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TAGGGCGCGTTAGGAAACATC	0.692000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				8	20					0	0	0.004482	0	0
NCF2	4688	broad.mit.edu	37	1	183529378	183529378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:183529378C>T	ENST00000413720.1	-	13	1460	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	NCF2_ENST00000418089.1_Missense_Mutation_p.E360K|NCF2_ENST00000367535.3_Missense_Mutation_p.E441K|NCF2_ENST00000367536.1_Missense_Mutation_p.E441K	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	441	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TTTTCACTTTCCTTGGGTTCA	0.438000													50	107					0	0	0.003610	0	0
NLRP10	338322	broad.mit.edu	37	11	7981544	7981544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7981544G>A	ENST00000328600.2	-	2	1776	c.1615C>T	c.(1615-1617)Ccc>Tcc	p.P539S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	539							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTAAACAGGGAGAAATTCTG	0.418000													18	52					0	0	0.004990	0	0
NPY	4852	broad.mit.edu	37	7	24324907	24324907	+	Silent	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:24324907G>T	ENST00000407573.1	+	3	338	c.48G>T	c.(46-48)ctG>ctT	p.L16L	NPY_ENST00000405982.1_Silent_p.L16L|NPY_ENST00000242152.2_Silent_p.L16L			P01303	NPY_HUMAN	neuropeptide Y	16					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	p.L16L(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCCTCGCCCTGTCCCTGCTCG	0.657000													21	42					2.32416e-17	2.59874e-17	0.002299	1	0
MAATS1	89876	broad.mit.edu	37	3	119449180	119449180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:119449180G>A	ENST00000273390.5	+	8	1051	c.974G>A	c.(973-975)gGa>gAa	p.G325E		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CTGCAGGAGGGAAAAGAGGCA	0.443000													38	80					0	0	0.004878	0	0
HSPG2	3339	broad.mit.edu	37	1	22159032	22159032	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:22159032G>A	ENST00000374695.3	-	81	11242	c.11163C>T	c.(11161-11163)ccC>ccT	p.P3721P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3721	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGATGAAGTCGGGCTGCCGGT	0.662000													27	68					0	0	0.002096	0	0
OBSCN	84033	broad.mit.edu	37	1	228433370	228433370	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:228433370C>T	ENST00000570156.2	+	13	4088	c.4014C>T	c.(4012-4014)tcC>tcT	p.S1338S	OBSCN_ENST00000422127.1_Silent_p.S1246S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S1246S|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	322	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGAGTCTCCTTTCAACTGC	0.537000													22	79					0	0	0.004656	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442633	22442633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:22442633C>T	ENST00000265810.4	+	4	534	c.419C>T	c.(418-420)cCc>cTc	p.P140L	PDLIM2_ENST00000397760.4_Missense_Mutation_p.P140L|PDLIM2_ENST00000397761.2_Missense_Mutation_p.P140L|PDLIM2_ENST00000339162.7_Missense_Mutation_p.P140L|PDLIM2_ENST00000409417.1_Missense_Mutation_p.P140L|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000409141.1_Missense_Mutation_p.P140L|PDLIM2_ENST00000308354.7_Missense_Mutation_p.P390L	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	140	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		TCACCACCACCCTCTAGCAGC	0.642000													21	57					0	0	0.002299	0	0
SNRPB	6628	broad.mit.edu	37	20	2443294	2443294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:2443294G>A	ENST00000339610.6	-	7	891	c.436C>T	c.(436-438)Cct>Tct	p.P146S	SNRPB_ENST00000438552.2_Missense_Mutation_p.P225S|SNRPB_ENST00000381342.2_Missense_Mutation_p.P225S			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	225					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CGCATCCCAGGGGGAGGAGGC	0.572000													45	59					0	0	0.003610	0	0
ABT1	29777	broad.mit.edu	37	6	26598587	26598587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:26598587C>T	ENST00000274849.1	+	3	564	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	178					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity	p.A178G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GTTGCTCAAGCCAAGCGTGAG	0.602000													35	42					0	0	0.002445	0	0
PLXNA2	5362	broad.mit.edu	37	1	208216535	208216535	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:208216535G>A	ENST00000367033.3	-	21	4645	c.3888C>T	c.(3886-3888)ctC>ctT	p.L1296L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1296					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TATCCGTCTGGAGCTCAGCAA	0.552000													25	38					0	0	0.001786	0	0
RP1	6101	broad.mit.edu	37	8	55541555	55541555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:55541555G>A	ENST00000220676.1	+	4	5261	c.5113G>A	c.(5113-5115)Gat>Aat	p.D1705N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1705					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGATAAGTGTGATGTTAGTGC	0.408000													31	47					0	0	0.002836	0	0
SIRPG	55423	broad.mit.edu	37	20	1638336	1638336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:1638336G>A	ENST00000303415.3	-	1	89	c.25C>T	c.(25-27)Cat>Tat	p.H9Y	SIRPG_ENST00000216927.4_Missense_Mutation_p.H9Y|SIRPG_ENST00000344103.4_Missense_Mutation_p.H9Y|SIRPG_ENST00000381583.2_Missense_Mutation_p.H9Y	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	9					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCAGGAGGATGGGGCCAGGAG	0.557000													21	49					0	0	0.002780	0	0
SLC13A3	64849	broad.mit.edu	37	20	45221075	45221075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:45221075C>T	ENST00000279027.4	-	6	906	c.888G>A	c.(886-888)tgG>tgA	p.W296*	SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.W249*|SLC13A3_ENST00000372121.1_Nonsense_Mutation_p.W246*|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.W249*|SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.W249*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.W249*|SLC13A3_ENST00000413164.2_Nonsense_Mutation_p.W246*	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	296						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGAAGGAGATCCAGAGCCAGC	0.502000													22	29					0	0	0.002780	0	0
IGDCC4	57722	broad.mit.edu	37	15	65685779	65685779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:65685779G>A	ENST00000352385.2	-	10	2014	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	602	Fibronectin type-III 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGTACCAGCCGAAATCCGTAC	0.552000													25	44					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179440123	179440123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179440123C>T	ENST00000589042.1	-	326	70960	c.70736G>A	c.(70735-70737)tGg>tAg	p.W23579*	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W14639*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W14706*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W21938*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W21011*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W14514*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21938	Fibronectin type-III 71.						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)			GATGTGGGTCCACTGGTCAGA	0.512000													20	67					0	0	0.007413	0	0
PSMC5	5705	broad.mit.edu	37	17	61908868	61908868	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:61908868C>T	ENST00000310144.6	+	10	1280	c.972C>T	c.(970-972)gcC>gcT	p.A324A	PSMC5_ENST00000581882.1_Silent_p.A316A|PSMC5_ENST00000580864.1_Silent_p.A316A|PSMC5_ENST00000375812.4_Silent_p.A316A	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	324					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						ATCTCCAGGCCCGGCTGGACA	0.567000													32	64					0	0	0.002836	0	0
WDHD1	11169	broad.mit.edu	37	14	55453880	55453880	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:55453880G>A	ENST00000360586.3	-	14	1817	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	WDHD1_ENST00000420358.2_Silent_p.F461F|WDHD1_ENST00000359167.4_Silent_p.F102F|WDHD1_ENST00000421192.1_Silent_p.F461F	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	584						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						GATAAACAATGAAAAGCTGTT	0.378000													17	33					0	0	0.004007	0	0
FOXI1	2299	broad.mit.edu	37	5	169532974	169532974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:169532974G>A	ENST00000449804.2	+	1	58	c.13G>A	c.(13-15)Gac>Aac	p.D5N	FOXI1_ENST00000306268.6_Missense_Mutation_p.D5N	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	5					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGCTCCTTCGACCTGCCGGC	0.697000									Pendred syndrome				7	4					0	0	0.001984	0	0
MMP27	64066	broad.mit.edu	37	11	102575304	102575304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:102575304G>A	ENST00000260229.4	-	2	396	c.305C>T	c.(304-306)aCc>aTc	p.T102I		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	102					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCCAGGGAGGGTGTAGCCATA	0.468000													34	34					0	0	0.002445	0	0
EZR	7430	broad.mit.edu	37	6	159188461	159188461	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:159188461G>A	ENST00000367075.3	-	13	1596	c.1428C>T	c.(1426-1428)ccC>ccT	p.P476P	EZR_ENST00000392177.4_Silent_p.P444P|EZR_ENST00000337147.7_Silent_p.P476P	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	476	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCTCGTACACGGGGGGTGGTG	0.622000			T	ROS1	NSCLC								29	62					0	0	0.003271	0	0
KIAA1407	57577	broad.mit.edu	37	3	113737698	113737698	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:113737698G>A	ENST00000295878.3	-	8	1136	c.990C>T	c.(988-990)ttC>ttT	p.F330F	KIAA1407_ENST00000545063.1_Silent_p.F161F	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	330										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAGGCAGCGAAATACCGTT	0.488000													10	166					0	0	0.001368	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798846	55798846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55798846C>T	ENST00000313555.1	+	1	952	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTATTTAAATCGTTTAAGAAT	0.264000													36	52					0	0	0.004878	0	0
GORAB	92344	broad.mit.edu	37	1	170513928	170513928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:170513928G>A	ENST00000367763.3	+	4	699	c.679G>A	c.(679-681)Gac>Aac	p.D227N	GORAB_ENST00000367762.1_Missense_Mutation_p.D227N	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	227	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GGTGTCAGCTGACATTGGAAT	0.433000													62	126					0	0	0.003610	0	0
ACSM4	341392	broad.mit.edu	37	12	7463176	7463176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:7463176G>A	ENST00000399422.4	+	3	502	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	152					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GACAGCAAAAGACATCCTCTA	0.562000													7	9					0	0	0.006214	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21792854	21792854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21792854G>A	ENST00000206660.6	+	14	1840	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Silent_p.R22R|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D614N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D576N|RPGRIP1_ENST00000556336.1_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	614					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGGAGATGAGGATAAAGTGGA	0.502000													41	75					0	0	0.002522	0	0
MAD2L2	10459	broad.mit.edu	37	1	11735727	11735727	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:11735727G>A	ENST00000235310.3	-	9	1417	c.489C>T	c.(487-489)atC>atT	p.I163I	MAD2L2_ENST00000376669.5_Silent_p.I176I|MAD2L2_ENST00000376667.3_Silent_p.I163I|MAD2L2_ENST00000376692.4_Silent_p.I163I|MAD2L2_ENST00000376672.1_Silent_p.I176I			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	163	HORMA.|Mediates interaction with ipaB.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGACCTGGATCTTCTCCA	0.617000								DNA polymerases (catalytic subunits)					51	81					0	0	0.003610	0	0
CTU2	348180	broad.mit.edu	37	16	88781504	88781504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:88781504C>T	ENST00000567949.1	+	14	1690	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	CTU2_ENST00000378384.3_Missense_Mutation_p.R403C|CTU2_ENST00000312060.5_Intron|CTU2_ENST00000453996.2_Missense_Mutation_p.R490C			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	490					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGCCCAGCTCCGCACACAGAG	0.682000													9	23					0	0	0.004482	0	0
CYBB	1536	broad.mit.edu	37	X	37642818	37642818	+	Nonsense_Mutation	SNP	C	C	T	rs137854588		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:37642818C>T	ENST00000378588.4	+	3	284	c.217C>T	c.(217-219)Cga>Tga	p.R73*	CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Nonsense_Mutation_p.R41*|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	73	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GCCAGTCTGTCGAAATCTGCT	0.498000													23	6					0	0	0.003330	0	0
ADH1B	125	broad.mit.edu	37	4	100232053	100232053	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:100232053C>T	ENST00000305046.8	-	8	1039	c.972G>A	c.(970-972)aaG>aaA	p.K324K	ADH1B_ENST00000394887.3_Silent_p.K284K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	324					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTTCTTTACTCTTAAAGCCTG	0.333000													49	68					0	0	0.003610	0	0
IGLV9-49	28773	broad.mit.edu	37	22	22697958	22697958	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:22697958C>T	ENST00000427632.2	+	0	283																											GGGATGGCATCCCTGATCGCT	0.557000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	22					0	0	0.008291	0	0
LBP	3929	broad.mit.edu	37	20	36982741	36982741	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:36982741C>T	ENST00000217407.2	+	4	587	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	142					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CGGTCAACCTCCTGTTGGGCA	0.572000													29	33					0	0	0.002445	0	0
GDF5	8200	broad.mit.edu	37	20	34025399	34025399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:34025399G>A	ENST00000374372.1	-	3	813	c.310C>T	c.(310-312)Cct>Tct	p.P104S	GDF5_ENST00000374369.3_Missense_Mutation_p.P104S			P43026	GDF5_HUMAN	growth differentiation factor 5	104					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTGGGTTCAGGGCCGCCCGGT	0.632000													19	72					0	0	0.008871	0	0
C2orf57	165100	broad.mit.edu	37	2	232458440	232458440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:232458440G>A	ENST00000313965.2	+	1	866	c.778G>A	c.(778-780)Gac>Aac	p.D260N		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	260										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		AAGGCCCCTGGACTCCAGCCT	0.647000													61	60					0	0	0.003610	0	0
LOXL1	4016	broad.mit.edu	37	15	74235199	74235199	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:74235199C>T	ENST00000261921.7	+	2	1433	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	369					protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CTCCAGGTCTCCCTGACTTGG	0.582000													74	132					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179404460	179404460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179404460C>T	ENST00000589042.1	-	352	98556	c.98332G>A	c.(98332-98334)Gaa>Aaa	p.E32778K	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23838K|TTN_ENST00000342175.6_Missense_Mutation_p.E23905K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E31137K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30210K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23713K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31137	Ig-like 145.						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)			CATTTATTTTCCAGAACCAGG	0.463000													30	37					0	0	0.008361	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921472	12921472	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:12921472C>T	ENST00000240189.2	+	4	1350	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	421										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTGAATTCCTTGGTTCGTG	0.547000													5	124					0	0	0.002780	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123216083	123216083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:123216083G>A	ENST00000349780.4	-	21	2623	c.2444C>T	c.(2443-2445)tCt>tTt	p.S815F	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S783F|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S815F|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S815F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	815					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GTGTTCTCCAGAAACTTCCTG	0.433000													36	20					0	0	0.004289	0	0
LTBP4	8425	broad.mit.edu	37	19	41119848	41119848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:41119848C>T	ENST00000308370.7	+	21	2785	c.2785C>T	c.(2785-2787)Ctt>Ttt	p.L929F	LTBP4_ENST00000396819.3_Missense_Mutation_p.L862F|LTBP4_ENST00000545697.1_Missense_Mutation_p.L382F|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.L892F|LTBP4_ENST00000243562.9_Missense_Mutation_p.L27F	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	929	Cys-rich.|EGF-like 11; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAGGAGGACCTTTGCCAGAG	0.677000													11	21					0	0	0.008291	0	0
PRAMEF7	441871	broad.mit.edu	37	1	12979687	12979687	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:12979687C>T	ENST00000361079.2	+	4	962	c.879C>T	c.(877-879)tcC>tcT	p.S293S						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGGCCTCCTTGGAGATGG	0.547000													28	181					0	0	0.006999	0	0
LRRC7	57554	broad.mit.edu	37	1	70505117	70505117	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:70505117C>T	ENST00000310961.5	+	22	3929	c.3511C>T	c.(3511-3513)Ctg>Ttg	p.L1171L	LRRC7_ENST00000035383.5_Silent_p.L1166L|LRRC7_ENST00000415775.2_Silent_p.L450L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1166						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTCCCAGTTCCTGAAAAGGAA	0.517000													33	49					0	0	0.003755	0	0
CFB	629	broad.mit.edu	37	6	31915744	31915744	+	Silent	SNP	C	C	T	rs113410938		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:31915744C>T	ENST00000456570.1	+	18	2344	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000425368.2_Silent_p.I261I|CFB_ENST00000477310.1_Silent_p.I612I|CFB_ENST00000556679.1_Silent_p.I763I			P00751	CFAB_HUMAN	complement factor B	261					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCGGAAGATCGTCCTGGACC	0.542000													107	214					0	0	0.003610	0	0
C12orf40	283461	broad.mit.edu	37	12	40078679	40078679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:40078679C>T	ENST00000324616.5	+	10	1451	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	C12orf40_ENST00000405531.3_Missense_Mutation_p.P433S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	433										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GGGAAATATACCTTCGGAAGA	0.373000													14	32					0	0	0.003163	0	0
MGAT3	4248	broad.mit.edu	37	22	39884672	39884672	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:39884672C>T	ENST00000341184.6	+	2	1535	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	440					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ATGGCGACTTCCCACGCTGGG	0.672000													14	30					0	0	0.003163	0	0
OLAH	55301	broad.mit.edu	37	10	15107690	15107690	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:15107690G>A	ENST00000378217.3	+	7	856	c.669G>A	c.(667-669)aaG>aaA	p.K223K	OLAH_ENST00000378228.3_Silent_p.K170K|OLAH_ENST00000485251.1_3'UTR	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	170					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTGAAGCCAAGGAATTTGTGA	0.393000													8	36					0	0	0.006214	0	0
ZFP30	22835	broad.mit.edu	37	19	38126146	38126146	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38126146A>T	ENST00000351218.2	-	6	1853	c.1296T>A	c.(1294-1296)caT>caA	p.H432Q	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.H432Q|ZFP30_ENST00000514101.2_Missense_Mutation_p.H432Q	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCACCAAAATGAATACTCT	0.393000													8	43					0	0	0.003080	0	0
BUD13	84811	broad.mit.edu	37	11	116633647	116633647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:116633647G>A	ENST00000260210.4	-	4	681	c.658C>T	c.(658-660)Cat>Tat	p.H220Y	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	220	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGTGAATCATGACGGACTCTC	0.547000													249	150					0	0	0.003610	0	0
GRM3	2913	broad.mit.edu	37	7	86468884	86468884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:86468884C>T	ENST00000361669.2	+	4	3153	c.2054C>T	c.(2053-2055)cCc>cTc	p.P685L	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.P557L|GRM3_ENST00000546348.1_Missense_Mutation_p.P277L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	685					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTCATCAGCCCCAGTTCTCAG	0.537000													27	54					0	0	0.008361	0	0
CFAP54	144535	broad.mit.edu	37	12	97150262	97150262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:97150262G>A	ENST00000524981.3	+	24	3220	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K				Q6ZTY8	CL063_HUMAN		1048										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATACTAATGGAAGAGAAATC	0.303000													12	25					0	0	0.002450	0	0
SIDT1	54847	broad.mit.edu	37	3	113285348	113285348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:113285348G>A	ENST00000264852.4	+	2	1030	c.304G>A	c.(304-306)Gag>Aag	p.E102K	SIDT1_ENST00000393830.3_Missense_Mutation_p.E102K	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	102						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCAGCAGAAAGAGGTGCTGTC	0.493000													47	39					0	0	0.003610	0	0
FAM178A	55719	broad.mit.edu	37	10	102689755	102689755	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:102689755G>A	ENST00000238961.3	+	8	2481		c.e8+1		FAM178A_ENST00000370269.3_Splice_Site	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		TTATTCTTAAGTAAGTAGAAA	0.264000													9	26					0	0	0.004482	0	0
ZNF733P	643955	broad.mit.edu	37	7	62751994	62751994	+	RNA	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:62751994T>A	ENST00000331425.6	-	0	1441					NR_003952.1																						TTTGTAGGGTTTCTCTCCAGT	0.393000													7	29					0	0	0.008291	0	0
VWF	7450	broad.mit.edu	37	12	6173516	6173516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:6173516G>A	ENST00000261405.5	-	12	1582	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	443	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GACGGTGACGGAGCGGGTGCA	0.642000													9	24					0	0	0.008291	0	0
SPTA1	6708	broad.mit.edu	37	1	158592810	158592810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158592810C>T	ENST00000368148.3	-	43	6263	c.6083G>A	c.(6082-6084)aGa>aAa	p.R2028K	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R2025K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2028					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAATTTCTGTCTGTGGACTGC	0.458000													83	140					0	0	0.003610	0	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013840	117013840	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:117013840C>T	ENST00000306985.4	+	2	247	c.93C>T	c.(91-93)atC>atT	p.I31I	MAP1LC3B2_ENST00000556529.1_Silent_p.I31I	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	31					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						CAACCAAAATCCCGGTGATAA	0.483000													33	72					0	0	0.003271	0	0
SEZ6L	23544	broad.mit.edu	37	22	26689006	26689006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:26689006G>A	ENST00000529632.2	+	2	925	c.729G>A	c.(727-729)atG>atA	p.M243I	SEZ6L_ENST00000360929.3_Missense_Mutation_p.M243I|SEZ6L_ENST00000402979.1_Missense_Mutation_p.M16I|SEZ6L_ENST00000248933.6_Missense_Mutation_p.M243I|SEZ6L_ENST00000403121.1_Missense_Mutation_p.M16I|SEZ6L_ENST00000343706.4_Missense_Mutation_p.M243I|SEZ6L_ENST00000404234.3_Missense_Mutation_p.M243I	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	243						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGGCCCTGATGGACAAAGGTG	0.637000													10	16					0	0	0.008291	0	0
GPR65	8477	broad.mit.edu	37	14	88477678	88477678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:88477678G>A	ENST00000267549.3	+	2	1045	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	163					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTGCGATGCCGAAAAGTCTAA	0.393000													36	59					0	0	0.003271	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472779	6472779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:6472779G>A	ENST00000263125.5	-	17	2057	c.1958C>T	c.(1957-1959)cCg>cTg	p.P653L	PRKCQ_ENST00000539722.1_Missense_Mutation_p.P528L|PRKCQ_ENST00000397176.2_Missense_Mutation_p.P590L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	653	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TACCACTTTCGGCCGGAACGG	0.617000													36	46					0	0	0.005524	0	0
SLC7A1	6541	broad.mit.edu	37	13	30088716	30088716	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:30088716G>A	ENST00000380752.5	-	13	2177	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	597					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGTAGATGATGAAGCCTGCGG	0.637000													6	13					0	0	0.001168	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279052	36279052	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:36279052C>T	ENST00000007510.4	+	21	3729	c.3585C>T	c.(3583-3585)agC>agT	p.S1195S	ARHGAP33_ENST00000378944.5_Silent_p.S1031S|ARHGAP33_ENST00000314737.5_Silent_p.S1034S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1195					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						ACCCCCGAAGCCGTTCAGATC	0.687000													18	35					0	0	0.001523	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598919	151598919	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:151598919C>T	ENST00000362032.4	+	3	693	c.588C>T	c.(586-588)ttC>ttT	p.F196F	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	196						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TGTTGGGGTTCCTTATTCCTC	0.423000													42	51					0	0	0.006230	0	0
DMBT1	1755	broad.mit.edu	37	10	124399865	124399865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124399865C>T	ENST00000368909.3	+	52	6971	c.6865C>T	c.(6865-6867)Ctc>Ttc	p.L2289F	DMBT1_ENST00000359586.6_Missense_Mutation_p.L1009F|DMBT1_ENST00000368955.3_Missense_Mutation_p.L2279F|DMBT1_ENST00000338354.3_Missense_Mutation_p.L2289F|DMBT1_ENST00000344338.3_Missense_Mutation_p.L2279F|DMBT1_ENST00000368956.2_Missense_Mutation_p.L1661F|DMBT1_ENST00000330163.4_Missense_Mutation_p.L1661F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2289	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCTGAAATCCTCCATTCTGA	0.468000													12	46					0	0	0.000978	0	0
OR4N2	390429	broad.mit.edu	37	14	20296296	20296296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:20296296C>T	ENST00000315947.1	+	1	689	c.689C>T	c.(688-690)tCt>tTt	p.S230F	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGGTCTTCTTCTGAGGCAAAA	0.493000													30	58					0	0	0.008361	0	0
MYO18B	84700	broad.mit.edu	37	22	26304324	26304324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:26304324G>A	ENST00000335473.7	+	32	5434	c.5184G>A	c.(5182-5184)atG>atA	p.M1728I	MYO18B_ENST00000407587.2_Missense_Mutation_p.M1729I|MYO18B_ENST00000536101.1_Missense_Mutation_p.M1728I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1728	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCGAGCGGATGAAGCAGATGC	0.602000													7	14					0	0	0.004482	0	0
TTPAL	79183	broad.mit.edu	37	20	43113135	43113135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:43113135C>T	ENST00000372904.3	+	4	747	c.604C>T	c.(604-606)Cct>Tct	p.P202S	TTPAL_ENST00000262605.4_Missense_Mutation_p.P202S|TTPAL_ENST00000372906.2_Intron	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	202	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						TCACTTTGGCCCTTTTATAGC	0.453000													21	42					0	0	0.003330	0	0
ABCA12	26154	broad.mit.edu	37	2	215872517	215872517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:215872517C>T	ENST00000272895.7	-	19	2745	c.2526G>A	c.(2524-2526)tgG>tgA	p.W842*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.W524*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	842					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACTTATCCATCCACTCTTGAG	0.388000													34	25					0	0	0.002836	0	0
TRIM11	81559	broad.mit.edu	37	1	228582616	228582616	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:228582616G>A	ENST00000493030.2	-	5	4531	c.822C>T	c.(820-822)gaC>gaT	p.D274D	TRIM11_ENST00000284551.6_Silent_p.D399D|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR			Q96F44	TRI11_HUMAN	tripartite motif containing 11	399	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCCTGGGTGGGTCCCGGAGTG	0.592000													23	47					0	0	0.003330	0	0
GRID2	2895	broad.mit.edu	37	4	93511390	93511390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:93511390C>T	ENST00000282020.4	+	2	455	c.197C>T	c.(196-198)tCa>tTa	p.S66L	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.S66L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	66					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCACATTTTCAGTGACGTTT	0.393000													19	91					0	0	0.007413	0	0
LYST	1130	broad.mit.edu	37	1	235891379	235891379	+	Silent	SNP	A	A	G	rs80338665		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:235891379A>G	ENST00000389794.3	-	38	9333	c.9159T>C	c.(9157-9159)agT>agC	p.S3053S	LYST_ENST00000389793.2_Silent_p.S3053S|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3053					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)			TACTCACCGAACTTTCAACTG	0.328000													23	47					0	0	0.004656	0	0
AARS2	57505	broad.mit.edu	37	6	44269818	44269818	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:44269818G>A	ENST00000244571.4	-	19	2579	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	859					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GCAGCTTACGGATGGCAGTGT	0.597000													11	24					0	0	0.008291	0	0
KCNK2	3776	broad.mit.edu	37	1	215408400	215408400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:215408400C>T	ENST00000444842.2	+	7	1343	c.1193C>T	c.(1192-1194)cCc>cTc	p.P398L	KCNK2_ENST00000391895.2_Missense_Mutation_p.P394L|KCNK2_ENST00000391894.2_Missense_Mutation_p.P383L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	398	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GTCTTGCCTCCCTTACTGAAG	0.498000													19	46					0	0	0.007413	0	0
NOBOX	135935	broad.mit.edu	37	7	144097249	144097249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:144097249G>A	ENST00000467773.1	-	5	1000	c.1001C>T	c.(1000-1002)aCc>aTc	p.T334I	NOBOX_ENST00000483238.1_Intron|NOBOX_ENST00000223140.5_Intron	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	334					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TGTTTCAATGGTGGGCCCTCC	0.617000													25	53					0	0	0.005443	0	0
NAA25	80018	broad.mit.edu	37	12	112516049	112516049	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:112516049G>A	ENST00000261745.4	-	7	855	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	203						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAACGTTCCAGGATCATATAA	0.303000													34	62					0	0	0.006999	0	0
FOXI1	2299	broad.mit.edu	37	5	169535193	169535193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:169535193C>T	ENST00000306268.6	+	2	776	c.715C>T	c.(715-717)Ccg>Tcg	p.P239S	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	239					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGCAGTCTCCCGGTGGACAG	0.572000									Pendred syndrome				24	37					0	0	0.002780	0	0
PRKCQ	5588	broad.mit.edu	37	10	6521089	6521089	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:6521089G>A	ENST00000263125.5	-	12	1317	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	PRKCQ_ENST00000539722.1_Silent_p.F281F|PRKCQ_ENST00000397176.2_Silent_p.F406F	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	406	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.F406F(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CCTTTATTGCGAAAAATTGAT	0.398000													17	33					0	0	0.002299	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167914	140167914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140167914C>T	ENST00000504120.2	+	1	2039	c.2039C>T	c.(2038-2040)tCg>tTg	p.S680L	PCDHA1_ENST00000378133.3_Missense_Mutation_p.S680L|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCGTCTTCGCGGGCGTCG	0.657000													15	48					0	0	0.003163	0	0
OLR1	4973	broad.mit.edu	37	12	10313505	10313505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:10313505C>T	ENST00000309539.3	-	4	504	c.444G>A	c.(442-444)tgG>tgA	p.W148*	OLR1_ENST00000432556.2_Intron|OLR1_ENST00000545927.1_Nonsense_Mutation_p.W148*|OLR1_ENST00000543993.1_Intron|OLR1_ENST00000544577.1_Intron	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	148	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CATGCCAGATCCAGTCTTGCG	0.423000													37	66					0	0	0.006230	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589549	140589549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140589549C>T	ENST00000239450.2	+	1	1259	c.1070C>T	c.(1069-1071)cCa>cTa	p.P357L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P20L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		357	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCCAATCCCAGAAAACACT	0.463000													24	21					0	0	0.003330	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27503069	27503069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:27503069G>A	ENST00000296097.3	+	6	974	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	DNAJC5G_ENST00000406962.1_Silent_p.A98A|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.E170K|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.E186K	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	186					protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAAATAGCGAAGATGATTT	0.343000											OREG0014517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	181					0	0	0.002222	0	0
ESYT2	57488	broad.mit.edu	37	7	158536337	158536337	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:158536337C>T	ENST00000251527.5	-	16	1823	c.1758G>A	c.(1756-1758)ggG>ggA	p.G586G	ESYT2_ENST00000435514.2_Silent_p.G21G	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	614	C2 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCTTCAGGTTCCCCAGGGAAC	0.542000													15	22					0	0	0.002450	0	0
ABCA13	154664	broad.mit.edu	37	7	48528851	48528851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:48528851G>A	ENST00000435803.1	+	48	13225	c.13201G>A	c.(13201-13203)Ggt>Agt	p.G4401S	ABCA13_ENST00000544596.1_Missense_Mutation_p.G131S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4401					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAATCAGAAGGGTTTTCATTC	0.378000													9	16					0	0	0.006214	0	0
SLIT1	6585	broad.mit.edu	37	10	98807584	98807584	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:98807584C>T	ENST00000266058.4	-	16	1742	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.E499E	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	499					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCTGGTAATCCTCCGTGCCTG	0.652000													12	21					0	0	0.000978	0	0
KALRN	8997	broad.mit.edu	37	3	124209691	124209691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:124209691C>T	ENST00000360013.3	+	30	4668	c.4541C>T	c.(4540-4542)tCt>tTt	p.S1514F	KALRN_ENST00000460856.1_Missense_Mutation_p.S1505F|KALRN_ENST00000240874.3_Missense_Mutation_p.S1514F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1514	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCAAAGATTCTTCAGGACAC	0.502000													28	34					0	0	0.006320	0	0
MICAL1	64780	broad.mit.edu	37	6	109768347	109768347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:109768347C>T	ENST00000368952.4	-	17	2503	c.2213G>A	c.(2212-2214)cGg>cAg	p.R738Q	MICAL1_ENST00000358807.3_Missense_Mutation_p.R719Q|MICAL1_ENST00000358577.3_Missense_Mutation_p.R633Q			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	719	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GAAGCAGCTCCGGTGGAAGAA	0.627000													30	55					0	0	0.003271	0	0
DNAH11	8701	broad.mit.edu	37	7	21827199	21827199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:21827199G>A	ENST00000328843.6	+	61	9974	c.9943G>A	c.(9943-9945)Gag>Aag	p.E3315K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E3308K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3315	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAAATTCTATGAGGTATCAAT	0.383000									Kartagener syndrome				6	30					0	0	0.001984	0	0
TEAD1	7003	broad.mit.edu	37	11	12901314	12901314	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:12901314C>T	ENST00000361905.4	+	6	1010	c.345C>T	c.(343-345)atC>atT	p.I115I	TEAD1_ENST00000527575.1_Silent_p.I130I|TEAD1_ENST00000526600.1_Silent_p.I34I|TEAD1_ENST00000527636.1_Silent_p.I130I|TEAD1_ENST00000334310.6_Silent_p.I119I|TEAD1_ENST00000361985.2_Silent_p.I130I	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	130					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGCCCAGATCGTCTCGGCCA	0.567000													34	56					0	0	0.002836	0	0
MUC15	143662	broad.mit.edu	37	11	26582726	26582726	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:26582726C>T	ENST00000436318.2	-	4	1105	c.972G>A	c.(970-972)ggG>ggA	p.G324G	MUC15_ENST00000529533.1_Silent_p.G324G|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000281268.8_Silent_p.G274G|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Silent_p.G297G|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Silent_p.G274G			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	297						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGCTAGAATTCCCAAAACTCA	0.383000													18	21					0	0	0.007413	0	0
INPP5D	3635	broad.mit.edu	37	2	234098535	234098535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:234098535C>T	ENST00000359570.5	+	24	2362	c.2362C>T	c.(2362-2364)Cag>Tag	p.Q788*	INPP5D_ENST00000455936.2_Nonsense_Mutation_p.Q552*|INPP5D_ENST00000450745.1_Nonsense_Mutation_p.Q552*			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	800					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCTGCTAGACCAGCACATCCT	0.572000													25	42					0	0	0.003954	0	0
MYOCD	93649	broad.mit.edu	37	17	12666537	12666537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:12666537C>T	ENST00000425538.1	+	14	2737	c.2537C>T	c.(2536-2538)cCc>cTc	p.P846L	MYOCD_ENST00000343344.4_Missense_Mutation_p.P798L|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	798					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCTTTGATCCCTATGCCACC	0.498000													37	40					0	0	0.005524	0	0
SCG2	7857	broad.mit.edu	37	2	224462859	224462859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:224462859G>A	ENST00000305409.2	-	2	1374	c.1142C>T	c.(1141-1143)cCg>cTg	p.P381L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	381					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.P381L(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTCCCGCTCCGGTTCCACTGA	0.468000													8	51					0	0	0.004482	0	0
DHX9	1660	broad.mit.edu	37	1	182853892	182853892	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:182853892C>T	ENST00000367549.3	+	27	3515	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1135					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGAACATGATCCGTCAGATCT	0.483000													24	60					0	0	0.006320	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47115560	47115560	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:47115560G>A	ENST00000290341.3	+	6	766	c.432G>A	c.(430-432)ttG>ttA	p.L144L	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	144	RRM 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCACCAGTTGGAGAACCATG	0.567000													41	57					0	0	0.007835	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2027550	2027550	+	Silent	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:2027550G>T	ENST00000382722.5	-	1	452	c.90C>A	c.(88-90)tcC>tcA	p.S30S	CACNA2D4_ENST00000585732.1_Silent_p.S30S|CACNA2D4_ENST00000586184.1_Silent_p.S30S|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000587995.1_Silent_p.S30S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	30						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGCGGCTGCTGGAGCTGGGGT	0.642000													6	12					0.00198382	0.00218736	0.001984	1	0
PLAC8L1	153770	broad.mit.edu	37	5	145464078	145464078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:145464078G>A	ENST00000311450.4	-	4	508	c.451C>T	c.(451-453)Cag>Tag	p.Q151*		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	151										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGGCCACCTGGCAGATGGAA	0.527000													43	89					0	0	0.007835	0	0
CDC40	51362	broad.mit.edu	37	6	110514442	110514442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:110514442C>T	ENST00000368932.1	+	3	348	c.247C>T	c.(247-249)Cct>Tct	p.P83S	CDC40_ENST00000368930.1_Missense_Mutation_p.P83S|CDC40_ENST00000368933.1_Missense_Mutation_p.P83S|CDC40_ENST00000307731.1_Missense_Mutation_p.P83S			O60508	PRP17_HUMAN	cell division cycle 40	83					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TCAGTATAATCCTACCTATGA	0.348000													19	49					0	0	0.001882	0	0
IMPACT	55364	broad.mit.edu	37	18	22029803	22029803	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:22029803C>T	ENST00000284202.4	+	10	921	c.780C>T	c.(778-780)gtC>gtT	p.V260V		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	260										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TGAAGAATGTCATGGTGGTAG	0.343000													13	20					0	0	0.001855	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820652	35820652	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:35820652C>T	ENST00000399989.1	+	2	618	c.339C>T	c.(337-339)ctC>ctT	p.L113L	MAGEB16_ENST00000399985.1_Silent_p.L113L|MAGEB16_ENST00000399988.1_Silent_p.L113L|MAGEB16_ENST00000399992.1_Silent_p.L145L|MAGEB16_ENST00000399987.1_Silent_p.L113L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	113	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGATGCTCTCGACCAGAAAG	0.438000													16	10					0	0	0.004990	0	0
MUC2	4583	broad.mit.edu	37	11	1093781	1093781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:1093781C>T	ENST00000441003.2	+	30	5627	c.5600C>T	c.(5599-5601)tCc>tTc	p.S1867F	MUC2_ENST00000333592.6_Missense_Mutation_p.S155F|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1881						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCCACCTCTTCCCCTCTCACG	0.627000													54	190					0	0	0.003610	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999229	104999229	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:104999229C>T	ENST00000372582.1	+	10	2007	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Silent_p.D417D|IL1RAPL2_ENST00000538500.1_Silent_p.D22D	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	417	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATACTTTAGACTGTGACAATC	0.378000													49	23					0	0	0.003610	0	0
ATP13A2	23400	broad.mit.edu	37	1	17322889	17322889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:17322889G>A	ENST00000452699.1	-	13	1472	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.S433F|ATP13A2_ENST00000341676.5_Missense_Mutation_p.S428F|ATP13A2_ENST00000502860.1_Intron	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	433					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACCCAGGACAGAGAGGGCAGC	0.602000													31	38					0	0	0.003271	0	0
SI	6476	broad.mit.edu	37	3	164735365	164735365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:164735365C>T	ENST00000264382.3	-	31	3792	c.3730G>A	c.(3730-3732)Gac>Aac	p.D1244N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1244	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCATAGCGTCATATAATTCC	0.348000										HNSCC(35;0.089)			4	26					0	0	0.000248	0	0
ELOVL2	54898	broad.mit.edu	37	6	10990062	10990062	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:10990062G>A	ENST00000354666.3	-	7	722	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	213					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGGTGAGCACGAACTGCACCT	0.547000													22	43					0	0	0.003330	0	0
TBC1D21	161514	broad.mit.edu	37	15	74181416	74181416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:74181416C>T	ENST00000300504.2	+	11	1068	c.985C>T	c.(985-987)Cag>Tag	p.Q329*	TBC1D21_ENST00000562056.1_Nonsense_Mutation_p.Q292*|TBC1D21_ENST00000535547.2_Nonsense_Mutation_p.Q293*	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	329						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CTAGGTTCCTCAGACATTAAA	0.552000													11	23					0	0	0.001855	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233556	56233556	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:56233556C>T	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							GCCTGCCCTTCCTCCGTCGTC	0.562000													3	5					0	0	0.004672	0	0
DYSF	8291	broad.mit.edu	37	2	71797379	71797379	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:71797379C>T	ENST00000258104.3	+	28	3223	c.2946C>T	c.(2944-2946)ccC>ccT	p.P982P	DYSF_ENST00000410020.3_Silent_p.P1000P|DYSF_ENST00000409366.1_Silent_p.P983P|DYSF_ENST00000413539.2_Silent_p.P1013P|DYSF_ENST00000429174.2_Silent_p.P982P|DYSF_ENST00000409582.3_Silent_p.P999P|DYSF_ENST00000410041.1_Silent_p.P1000P|DYSF_ENST00000409762.1_Silent_p.P999P|DYSF_ENST00000409651.1_Silent_p.P1014P|DYSF_ENST00000409744.1_Silent_p.P969P|DYSF_ENST00000394120.2_Silent_p.P983P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	982						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGTGCTTCCCAAGGATGACA	0.542000													25	44					0	0	0.007291	0	0
TINAG	27283	broad.mit.edu	37	6	54173634	54173634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:54173634C>T	ENST00000259782.4	+	1	382	c.286C>T	c.(286-288)Cct>Tct	p.P96S	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.P78S|TINAG_ENST00000370869.3_Missense_Mutation_p.P92S	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	96	SMB.				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGATTGCTGTCCTGACTACAA	0.453000													47	84					0	0	0.003610	0	0
GPC5	2262	broad.mit.edu	37	13	92345655	92345655	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:92345655C>T	ENST00000377067.3	+	3	912	c.540C>T	c.(538-540)aaC>aaT	p.N180N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	180						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACCTCATTAACCCTGGTGTGA	0.443000													33	66					0	0	0.003755	0	0
BTBD7	55727	broad.mit.edu	37	14	93760510	93760510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:93760510G>A	ENST00000334746.5	-	3	1163	c.856C>T	c.(856-858)Cca>Tca	p.P286S	BTBD7_ENST00000555525.1_Missense_Mutation_p.P286S|BTBD7_ENST00000298896.3_Missense_Mutation_p.P286S|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	286	BTB 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CGAAAAAATGGGGACCGTGCA	0.398000													16	22					0	0	0.006122	0	0
TDGF1	6997	broad.mit.edu	37	3	46620795	46620795	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:46620795G>A	ENST00000296145.5	+	3	895	c.162G>A	c.(160-162)caG>caA	p.Q54Q	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Silent_p.Q38Q	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	54					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TTTGGCCCCAGGAGGAGCCTG	0.562000													18	38					0	0	0.008871	0	0
GPR98	84059	broad.mit.edu	37	5	90024573	90024573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:90024573G>A	ENST00000405460.2	+	49	10345	c.10249G>A	c.(10249-10251)Ggc>Agc	p.G3417S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3417					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAACAAGGGAGGCTCTGTGTT	0.488000													57	85					0	0	0.003610	0	0
NEB	4703	broad.mit.edu	37	2	152554087	152554087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:152554087C>T	ENST00000427231.2	-	14	1430	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	NEB_ENST00000409198.1_Missense_Mutation_p.D410N|NEB_ENST00000603639.1_Missense_Mutation_p.D410N|NEB_ENST00000172853.10_Missense_Mutation_p.D410N|NEB_ENST00000604864.1_Missense_Mutation_p.D410N|NEB_ENST00000397345.3_Missense_Mutation_p.D410N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	410					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGAACAGTATCGAGCTTGAAT	0.328000													21	74					0	0	0.002780	0	0
CACNG2	10369	broad.mit.edu	37	22	36962539	36962539	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:36962539C>T	ENST00000300105.6	-	3	1278	c.295_splice	c.e3-1	p.R99_splice		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	99					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R99R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCTCACGGCCCCTGTGGAAC	0.587000													14	31					0	0	0.004007	0	0
STRA6	64220	broad.mit.edu	37	15	74474685	74474685	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:74474685A>C	ENST00000323940.5	-	15	1662	c.1418_splice	c.e15+1	p.W473_splice	STRA6_ENST00000535552.1_Splice_Site_p.W510_splice|STRA6_ENST00000395105.4_Splice_Site_p.W473_splice|STRA6_ENST00000563965.1_Splice_Site_p.W512_splice|STRA6_ENST00000574278.1_Splice_Site_p.W488_splice|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Splice_Site_p.W464_splice|STRA6_ENST00000416286.3_Splice_Site_p.W465_splice|STRA6_ENST00000449139.2_Splice_Site_p.W473_splice	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	473					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TTCACTCACCACGAGGACTCC	0.602000													15	26					0	0	0.003163	0	0
WNK1	65125	broad.mit.edu	37	12	990932	990932	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:990932C>T	ENST00000537687.1	+	13	4609	c.3966C>T	c.(3964-3966)acC>acT	p.T1322T	WNK1_ENST00000530271.2_Silent_p.T1560T|WNK1_ENST00000535572.1_Silent_p.T815T|WNK1_ENST00000315939.6_Silent_p.T1062T|WNK1_ENST00000340908.4_Silent_p.T655T	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1062					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCAGCCGACCACTTTGGCTT	0.458000													41	91					0	0	0.002852	0	0
SYNE1	23345	broad.mit.edu	37	6	152576878	152576878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:152576878C>T	ENST00000367255.5	-	103	19709	c.19108G>A	c.(19108-19110)Gga>Aga	p.G6370R	SYNE1_ENST00000448038.1_Missense_Mutation_p.G6299R|SYNE1_ENST00000356820.4_Missense_Mutation_p.G894R|SYNE1_ENST00000341594.5_Missense_Mutation_p.G5982R|SYNE1_ENST00000423061.1_Missense_Mutation_p.G6299R|SYNE1_ENST00000265368.4_Missense_Mutation_p.G6370R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6370					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)		TTTGCCCCTCCACTCTGGGAA	0.443000										HNSCC(10;0.0054)			31	60					0	0	0.002836	0	0
PACS1	55690	broad.mit.edu	37	11	66006656	66006656	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:66006656C>T	ENST00000320580.4	+	21	2370	c.2337C>T	c.(2335-2337)tcC>tcT	p.S779S	PACS1_ENST00000529757.1_Silent_p.S315S	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	779					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.S779S(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTGTGCCCTCCACATCACCAC	0.617000													23	30					0	0	0.006320	0	0
LPA	4018	broad.mit.edu	37	6	161020616	161020616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:161020616G>A	ENST00000447678.1	-	21	3323	c.3203C>T	c.(3202-3204)aCc>aTc	p.T1068I	LPA_ENST00000316300.5_Missense_Mutation_p.T1068I	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3576	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTGACAGTGGTGGAGTATGT	0.478000													133	218					0	0	0.003610	0	0
SELL	6402	broad.mit.edu	37	1	169676557	169676557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:169676557C>T	ENST00000236147.4	-	4	705	c.545G>A	c.(544-546)gGa>gAa	p.G182E	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	169	EGF-like.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TACACATTCTCCATGGCCACT	0.393000													17	24					0	0	0.007413	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508796	37508796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:37508796C>T	ENST00000374660.1	+	40	4444	c.4345C>T	c.(4345-4347)Caa>Taa	p.Q1449*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Q1330*|ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Q1330*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1386						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCGTATATATCAATATGAAAA	0.279000													4	3					0	0	0.000248	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38682859	38682859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38682859C>T	ENST00000222345.6	+	17	5014	c.4505C>T	c.(4504-4506)cCa>cTa	p.P1502L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1502					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCGGTCACCACGGAAGAAC	0.552000													22	32					0	0	0.001882	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290665	141290665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:141290665G>A	ENST00000247452.3	-	3	1456	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	370						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAAAAGGAGACGTTGCT	0.502000										HNSCC(46;0.14)			51	14					0	0	0.003610	0	0
SPEN	23013	broad.mit.edu	37	1	16257460	16257460	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:16257460C>T	ENST00000375759.3	+	11	4929	c.4725C>T	c.(4723-4725)tcC>tcT	p.S1575S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1575					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAACTGATTCCATTCAAGAAC	0.423000													21	33					0	0	0.008871	0	0
LPA	4018	broad.mit.edu	37	6	160977156	160977156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:160977156C>T	ENST00000447678.1	-	31	4994	c.4874G>A	c.(4873-4875)cGa>cAa	p.R1625Q	LPA_ENST00000316300.5_Missense_Mutation_p.R1625Q	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4133	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GAATGTGCCTCGATAACTCTG	0.488000													18	73					0	0	0.005443	0	0
SH3D19	152503	broad.mit.edu	37	4	152058918	152058918	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:152058918A>G	ENST00000409598.4	-	14	2720	c.1553T>C	c.(1552-1554)aTt>aCt	p.I518T	SH3D19_ENST00000455740.1_Missense_Mutation_p.I518T|SH3D19_ENST00000424281.1_Missense_Mutation_p.I482T|SH3D19_ENST00000427414.2_Missense_Mutation_p.I482T|SH3D19_ENST00000409252.2_Missense_Mutation_p.I541T|SH3D19_ENST00000514152.1_Missense_Mutation_p.I518T|SH3D19_ENST00000304527.4_Missense_Mutation_p.I541T			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	541	SH3 2.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AAATATGCCAATCTGGTTTCT	0.383000													21	50					0	0	0.005443	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68221863	68221863	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:68221863G>A	ENST00000347230.4	-	37	7029	c.6891C>T	c.(6889-6891)gaC>gaT	p.D2297D	ZFYVE26_ENST00000557306.1_Silent_p.D143D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2297					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTTCAGGTGGTCCTTGGCCT	0.478000													48	59					0	0	0.003610	0	0
ARMC4	55130	broad.mit.edu	37	10	28224106	28224106	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28224106C>T	ENST00000305242.5	-	16	2420	c.2328G>A	c.(2326-2328)gtG>gtA	p.V776V	ARMC4_ENST00000545014.1_Silent_p.V301V|ARMC4_ENST00000537576.1_Silent_p.V468V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	776							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGGCCCCAACCACATTCACAA	0.453000													36	49					0	0	0.004289	0	0
DSP	1832	broad.mit.edu	37	6	7558481	7558481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:7558481G>A	ENST00000379802.3	+	3	747	c.406G>A	c.(406-408)Gat>Aat	p.D136N	DSP_ENST00000418664.2_Missense_Mutation_p.D136N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	136	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAGCCCTGTGATGCTTACCA	0.502000													10	21					0	0	0.006214	0	0
CLDN1	9076	broad.mit.edu	37	3	190026081	190026081	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:190026081C>T	ENST00000295522.3	-	4	889	c.621G>A	c.(619-621)ggG>ggA	p.G207G		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	207					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CGTAGTCTTTCCCGCTGGAAG	0.453000													51	90					0	0	0.003610	0	0
STAT6	6778	broad.mit.edu	37	12	57499302	57499302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57499302C>T	ENST00000300134.3	-	8	1086	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	STAT6_ENST00000454075.3_Missense_Mutation_p.R254Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R254Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R144Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R254Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R144Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	254					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAGCGATGCCCGGGTCTTGGG	0.617000													15	33					0	0	0.003163	0	0
SLC38A8	146167	broad.mit.edu	37	16	84067033	84067033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:84067033G>A	ENST00000299709.3	-	3	429	c.430C>T	c.(430-432)Ccg>Tcg	p.P144S		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	144					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCGTACCACGGCTGCGGGGCG	0.652000													11	47					0	0	0.000978	0	0
SLC11A1	6556	broad.mit.edu	37	2	219254628	219254628	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219254628C>T	ENST00000233202.6	+	9	1171	c.831C>T	c.(829-831)atC>atT	p.I277I	SLC11A1_ENST00000539932.1_Silent_p.I159I	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	277					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCAGACATCAGAGAAGCCA	0.557000													9	27					0	0	0.004482	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290826	141290826	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:141290826C>T	ENST00000247452.3	-	3	1295	c.948G>A	c.(946-948)gaG>gaA	p.E316E		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	316	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCTAAAAACTCTAGTACTT	0.463000										HNSCC(46;0.14)			42	21					0	0	0.006230	0	0
G6PC	2538	broad.mit.edu	37	17	41055989	41055989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:41055989C>T	ENST00000253801.2	+	2	351	c.272C>T	c.(271-273)aCt>aTt	p.T91I	G6PC_ENST00000585489.1_Missense_Mutation_p.T91I|G6PC_ENST00000592383.1_Missense_Mutation_p.T91I	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	91					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GTTTTGGATACTGACTACTAC	0.493000													36	82					0	0	0.008740	0	0
PCDH18	54510	broad.mit.edu	37	4	138449647	138449647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:138449647C>T	ENST00000344876.4	-	3	3111	c.2725G>A	c.(2725-2727)Gga>Aga	p.G909R	PCDH18_ENST00000412923.2_Missense_Mutation_p.G908R|PCDH18_ENST00000510305.1_Missense_Mutation_p.G120R|PCDH18_ENST00000507846.1_Missense_Mutation_p.G688R|PCDH18_ENST00000511115.1_Missense_Mutation_p.G89R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	909	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGAATTCTTCCATCTGTGAGA	0.418000													84	151					0	0	0.003610	0	0
NAV3	89795	broad.mit.edu	37	12	78513580	78513580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:78513580G>A	ENST00000397909.2	+	15	3777	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	NAV3_ENST00000266692.7_Missense_Mutation_p.E1202K|NAV3_ENST00000536525.2_Missense_Mutation_p.E1202K|NAV3_ENST00000228327.6_Missense_Mutation_p.E1202K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1202	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAAGGAAAAGGAAAAAGTAGC	0.527000										HNSCC(70;0.22)			21	54					0	0	0.008871	0	0
C7orf66	154907	broad.mit.edu	37	7	108524165	108524165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:108524165G>A	ENST00000379007.2	-	2	301	c.247C>T	c.(247-249)Cat>Tat	p.H83Y		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	83						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TATCCCTCATGAATTCTAGTT	0.393000													33	40					0	0	0.002836	0	0
TMOD1	7111	broad.mit.edu	37	9	100286524	100286524	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:100286524C>T	ENST00000395211.2	+	2	190	c.54C>T	c.(52-54)atC>atT	p.I18I	TMOD1_ENST00000259365.3_Silent_p.I18I	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	18					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		AAGATGAAATCCTTGGAGCCC	0.473000													16	11					0	0	0.004990	0	0
ELF2	1998	broad.mit.edu	37	4	139980139	139980139	+	Nonstop_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:139980139A>C	ENST00000394235.2	-	10	2246	c.1744T>G	c.(1744-1746)Taa>Gaa	p.*582E	ELF2_ENST00000510408.1_Nonstop_Mutation_p.*522E|ELF2_ENST00000379549.2_Nonstop_Mutation_p.*505E|ELF2_ENST00000379550.1_Nonstop_Mutation_p.*594E|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000265495.4_Nonstop_Mutation_p.*582E|ELF2_ENST00000358635.3_Nonstop_Mutation_p.*534E	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	0					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CTGCTATTTTATTTCTCACAT	0.418000													32	46					0	0	0.003271	0	0
ARMC1	55156	broad.mit.edu	37	8	66516710	66516710	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:66516710G>A	ENST00000276569.3	-	7	1012	c.768C>T	c.(766-768)tcC>tcT	p.S256S	ARMC1_ENST00000458464.2_Silent_p.S154S	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	256					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AGCCGACCCGGGACACCGCTT	0.498000													27	55					0	0	0.006320	0	0
MYO18B	84700	broad.mit.edu	37	22	26173717	26173717	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:26173717G>A	ENST00000335473.7	+	8	2287	c.2037G>A	c.(2035-2037)ggG>ggA	p.G679G	MYO18B_ENST00000407587.2_Silent_p.G679G|MYO18B_ENST00000536101.1_Silent_p.G679G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	679	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCTGGTGGGGATGGCAGGCA	0.622000													38	69					0	0	0.006230	0	0
RNF135	84282	broad.mit.edu	37	17	29325795	29325795	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:29325795G>A	ENST00000328381.5	+	5	1758	c.885G>A	c.(883-885)gaG>gaA	p.E295E	RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	295	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GGAGCTGTGAGAGGTTTTCTA	0.542000													29	18					0	0	0.001786	0	0
SMC4	10051	broad.mit.edu	37	3	160118641	160118641	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:160118641C>T	ENST00000357388.3	+	2	478	c.27C>T	c.(25-27)tcC>tcT	p.S9S	SMC4_ENST00000462787.1_Silent_p.S9S|SMC4_ENST00000344722.5_Silent_p.S9S|SMC4_ENST00000360111.2_Silent_p.S9S|SMC4_ENST00000469762.1_Silent_p.S9S|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	9					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCCAGCCCTCCACTGCCCGGC	0.786000													5	5					0	0	0.001168	0	0
CCNB3	85417	broad.mit.edu	37	X	50052004	50052004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:50052004C>T	ENST00000376042.1	+	6	1133	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	CCNB3_ENST00000276014.7_Missense_Mutation_p.P279S|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	279					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGAGTCAATCCCCACCCATAA	0.418000													28	9					0	0	0.005443	0	0
HTR2A	3356	broad.mit.edu	37	13	47466613	47466613	+	Silent	SNP	G	G	A	rs112426939		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:47466613G>A	ENST00000378688.4	-	2	656	c.525C>T	c.(523-525)gtC>gtT	p.V175V	HTR2A_ENST00000543956.1_Silent_p.V91V|HTR2A_ENST00000542664.1_Silent_p.V175V			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	175					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.V175V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCTGGATGGCGACGTAGCGGT	0.532000													49	268					0	0	0.003610	0	0
MDN1	23195	broad.mit.edu	37	6	90494817	90494817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:90494817G>A	ENST00000369393.3	-	9	1478	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.R455*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	455					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTAGCGGTCGATACCAATTT	0.388000													64	107					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179614349	179614349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179614349C>T	ENST00000360870.5	-	46	13000	c.12778G>A	c.(12778-12780)Gaa>Aaa	p.E4260K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	411							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)			CCAATATTTTCGAATTGACTA	0.373000													14	39					0	0	0.001855	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650919	94650919	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:94650919G>A	ENST00000260526.6	-	17	2081	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	633					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CAACACCTTGGAACACTACAA	0.353000													29	67					0	0	0.001786	0	0
XIRP1	165904	broad.mit.edu	37	3	39229316	39229316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:39229316C>T	ENST00000340369.3	-	2	1849	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E541K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	541	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCCACCACTTCCTGCCGGGTG	0.607000													21	54					0	0	0.001882	0	0
C2CD5	9847	broad.mit.edu	37	12	22643080	22643080	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:22643080G>A	ENST00000333957.4	-	12	1590	c.1335C>T	c.(1333-1335)acC>acT	p.T445T	C2CD5_ENST00000396028.2_Silent_p.T436T|C2CD5_ENST00000446597.1_Silent_p.T445T|C2CD5_ENST00000544930.1_Silent_p.T260T|C2CD5_ENST00000536386.1_Silent_p.T447T|C2CD5_ENST00000545552.1_Silent_p.T458T|C2CD5_ENST00000542676.1_Silent_p.T445T	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		AGCCTTCCACGGTGCCATCCT	0.448000													32	51					0	0	0.003755	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529943	140529943	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140529943G>A	ENST00000231136.1	+	1	105	c.105G>A	c.(103-105)ttG>ttA	p.L35L	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		35	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCCGTATTGGAGGAGACAG	0.493000													21	54					0	0	0.008871	0	0
USP36	57602	broad.mit.edu	37	17	76794553	76794553	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:76794553G>A	ENST00000312010.6	-	20	3645	c.3321C>T	c.(3319-3321)ttC>ttT	p.F1107F	USP36_ENST00000542802.2_Silent_p.F1107F|USP36_ENST00000449938.2_Silent_p.F712F	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1105					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCACAGACCAGAAGTTCCGTC	0.512000													42	73					0	0	0.003610	0	0
PGK2	5232	broad.mit.edu	37	6	49754641	49754641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:49754641G>A	ENST00000304801.3	-	1	412	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	87					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCCCAGCAAGGATTTGAGCTC	0.522000													48	89					0	0	0.003610	0	0
GH1	2688	broad.mit.edu	37	17	61995778	61995778	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:61995778G>A	ENST00000323322.5	-	2	141	c.99C>T	c.(97-99)tcC>tcT	p.S33S	GH1_ENST00000351388.4_Silent_p.S33S|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Silent_p.S33S|GH1_ENST00000458650.2_Silent_p.S33S	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	33					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CAAAAAGCCTGGATAAGGGAA	0.592000													72	122					0	0	0.003610	0	0
ASNSD1	54529	broad.mit.edu	37	2	190535413	190535413	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:190535413C>T	ENST00000260952.4	+	6	2306	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	ASNSD1_ENST00000607062.1_Silent_p.S150S	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	631					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AAATCATGTCCTTAGAAAATC	0.294000													20	26					0	0	0.001523	0	0
SPERT	220082	broad.mit.edu	37	13	46287337	46287337	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:46287337C>T	ENST00000378966.3	+	2	485	c.69C>T	c.(67-69)ttC>ttT	p.F23F	SPERT_ENST00000310521.1_Silent_p.F59F			Q8NA61	SPERT_HUMAN	spermatid associated	59						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCGAACCCTTCCCGAGGCTCC	0.647000													4	24					0	0	0.000248	0	0
HDAC9	9734	broad.mit.edu	37	7	18688209	18688209	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:18688209T>G	ENST00000406451.3	+	11	1511	c.1361T>G	c.(1360-1362)tTg>tGg	p.L454W	HDAC9_ENST00000405010.3_Missense_Mutation_p.L454W|HDAC9_ENST00000428307.2_Missense_Mutation_p.L410W|HDAC9_ENST00000441542.2_Missense_Mutation_p.L457W|HDAC9_ENST00000406072.1_Missense_Mutation_p.L441W|HDAC9_ENST00000432645.2_Missense_Mutation_p.L454W|HDAC9_ENST00000401921.1_Missense_Mutation_p.L413W|HDAC9_ENST00000456174.2_Missense_Mutation_p.L426W|HDAC9_ENST00000524023.1_Missense_Mutation_p.L377W|HDAC9_ENST00000417496.2_Missense_Mutation_p.L452W	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	454					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase 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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCTGCACCTTTGCCTCAGAGC	0.502000													19	39					0	0	0.007413	0	0
OR51B5	282763	broad.mit.edu	37	11	5364678	5364678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5364678G>A	ENST00000300773.2	-	1	131	c.77C>T	c.(76-78)tCc>tTc	p.S26F	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S26F(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAAATACGGAAATCCAGTG	0.438000													20	40					0	0	0.008871	0	0
KCNE4	23704	broad.mit.edu	37	2	223918037	223918037	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:223918037G>A	ENST00000281830.3	+	2	973	c.642G>A	c.(640-642)tcG>tcA	p.S214S	KCNE4_ENST00000604125.1_Silent_p.S163S|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	163						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAGGGTCCTCGGAGAACATCC	0.607000													4	23					0	0	0.000602	0	0
EHMT1	79813	broad.mit.edu	37	9	140708908	140708908	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:140708908C>G	ENST00000460843.1	+	22	3233	c.3206C>G	c.(3205-3207)tCc>tGc	p.S1069C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1069	Pre-SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GACGACTGCTCCTCCAGCAAC	0.632000													29	23					0	0	0.003755	0	0
NPRL3	8131	broad.mit.edu	37	16	142606	142606	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:142606G>A	ENST00000399953.3	-	10	1551	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Silent_p.P204P	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	383							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CCTGCACAGCGGGGGCCAGGG	0.567000													9	8					0	0	0.004482	0	0
IL1RL2	8808	broad.mit.edu	37	2	102804359	102804359	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:102804359T>C	ENST00000264257.2	+	2	158	c.32T>C	c.(31-33)aTc>aCc	p.I11T	IL1RL2_ENST00000539491.1_Missense_Mutation_p.I11T|IL1RL2_ENST00000441515.2_Missense_Mutation_p.S38P|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	11					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGGTTGTCCATCGCCCTTCCA	0.657000													28	38					0	0	0.005443	0	0
DNAI2	64446	broad.mit.edu	37	17	72305507	72305507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:72305507G>A	ENST00000579490.1	+	9	1633	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N	DNAI2_ENST00000582036.1_Missense_Mutation_p.D443N|DNAI2_ENST00000307504.5_Missense_Mutation_p.D300N|DNAI2_ENST00000311014.6_Missense_Mutation_p.D443N|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000446837.2_Missense_Mutation_p.D443N			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	443					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGAGCAGTGCGATCCCACCCT	0.612000									Kartagener syndrome				8	45					0	0	0.006214	0	0
OR9G4	283189	broad.mit.edu	37	11	56510593	56510593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56510593G>A	ENST00000302957.3	-	1	694	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTTGACATAGGAAATCAGGAT	0.483000													42	50					0	0	0.002522	0	0
GK2	2712	broad.mit.edu	37	4	80328648	80328648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:80328648G>A	ENST00000358842.3	-	1	724	c.707C>T	c.(706-708)tCt>tTt	p.S236F		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	236					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GATCTCAGAAGAACTGAAGAC	0.413000													30	62					0	0	0.001786	0	0
NXPH1	30010	broad.mit.edu	37	7	8791000	8791000	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:8791000G>A	ENST00000405863.1	+	3	1328	c.417G>A	c.(415-417)ggG>ggA	p.G139G	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Silent_p.G22G	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	139	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGATAACTGGGAAAATTGTAG	0.398000													35	42					0	0	0.003271	0	0
ZNF215	7762	broad.mit.edu	37	11	6977310	6977310	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6977310C>T	ENST00000278319.5	+	7	1690	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.R368*|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	368					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R368*(1)|p.R368G(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TACAGATATTCGACACCAAAA	0.333000													12	48					0	0	0.000978	0	0
ZIM2	23619	broad.mit.edu	37	19	57286131	57286131	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57286131G>A	ENST00000391708.3	-	12	2051	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000593711.1_Silent_p.F503F|ZIM2_ENST00000601070.1_Silent_p.F503F|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Silent_p.F503F|ZIM2_ENST00000221722.5_Silent_p.F503F|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGGGTCGGCCGAAACATTTCC	0.443000													24	40					0	0	0.003330	0	0
NCAPD3	23310	broad.mit.edu	37	11	134027867	134027867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:134027867G>A	ENST00000534548.2	-	31	4194	c.4130C>T	c.(4129-4131)cCt>cTt	p.P1377L		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1377					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TAAAGTGAAAGGCAGCACTCC	0.483000													83	60					0	0	0.003610	0	0
KCNA6	3742	broad.mit.edu	37	12	4920434	4920434	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:4920434C>T	ENST00000433855.1	+	1	2093	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	KCNA6_ENST00000280684.3_Silent_p.I409I	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	409						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TTCCCAGCATCCCGGATGCCT	0.567000										HNSCC(72;0.22)			51	72					0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34087838	34087838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34087838G>A	ENST00000373381.4	-	37	5932	c.5756C>T	c.(5755-5757)tCc>tTc	p.S1919F	CSMD2_ENST00000373388.2_Missense_Mutation_p.S18F|CSMD2_ENST00000373380.1_Missense_Mutation_p.S792F|CSMD2_ENST00000373377.1_Missense_Mutation_p.S18F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1879	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCTGGTTGGAGGTGCTGTT	0.517000													37	72					0	0	0.004289	0	0
SMAD7	4092	broad.mit.edu	37	18	46468879	46468879	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:46468879C>T	ENST00000262158.2	-	3	1000	c.714G>A	c.(712-714)acG>acA	p.T238T	SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Silent_p.T237T|SMAD7_ENST00000591805.1_Silent_p.T23T	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	238					adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					CCAGATAATTCGTTCCCCCTG	0.443000													37	133					0	0	0.006230	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51995005	51995005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:51995005C>T	ENST00000291707.3	-	8	1733	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.E442K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	560					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATCTCTCCTTCCTCTGGGGAG	0.592000													32	64					0	0	0.002445	0	0
NWD1	284434	broad.mit.edu	37	19	16860716	16860716	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:16860716C>T	ENST00000524140.2	+	6	1681	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	NWD1_ENST00000339803.6_Silent_p.L286L|NWD1_ENST00000379808.3_Silent_p.L421L|NWD1_ENST00000549814.1_Silent_p.L421L|NWD1_ENST00000523826.1_Silent_p.L215L|NWD1_ENST00000552788.1_Silent_p.L421L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	421	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATACCCTCCTCCACACTGTCT	0.607000													41	68					0	0	0.002522	0	0
TLL1	7092	broad.mit.edu	37	4	166913967	166913967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:166913967G>A	ENST00000061240.2	+	3	939	c.292G>A	c.(292-294)Gac>Aac	p.D98N	TLL1_ENST00000507499.1_Missense_Mutation_p.D98N|TLL1_ENST00000513213.1_Missense_Mutation_p.D98N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	98					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGGACTTGGAGACCATGCTAT	0.358000													24	49					0	0	0.004656	0	0
C6orf195	154386	broad.mit.edu	37	6	2623929	2623929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:2623929G>A	ENST00000296847.3	-	3	651	c.128C>T	c.(127-129)cCc>cTc	p.P43L		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	43			P -> S (in dbSNP:rs9503233).							cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CCTTAGAGCGGGCCTGGCTCC	0.617000													34	49					0	0	0.002445	0	0
MPO	4353	broad.mit.edu	37	17	56349253	56349253	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:56349253C>T	ENST00000340482.3	-	10	2065	c.1888_splice	c.e10-1	p.G630_splice	MPO_ENST00000225275.3_Splice_Site_p.G598_splice			P05164	PERM_HUMAN	myeloperoxidase	598					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGCATTGTATCCTGCATGGGG	0.597000													39	71					0	0	0.006999	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921781	78921781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:78921781G>A	ENST00000261751.3	-	5	977	c.866C>T	c.(865-867)tCc>tTc	p.S289F	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	289					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CACATCGAGGGAGGTGGGTGG	0.572000													30	47					0	0	0.002096	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641727	106641727	+	RNA	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:106641727C>A	ENST00000390605.2	-	0	245																											CACTCAAGCCCTTGTCCAGGG	0.547000													66	120					1.21826e-31	1.36628e-31	0.003610	1	0
FAM161B	145483	broad.mit.edu	37	14	74411260	74411260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:74411260C>T	ENST00000286544.3	-	3	1090	c.892G>A	c.(892-894)Gag>Aag	p.E298K	FAM161B_ENST00000534936.1_Missense_Mutation_p.E235K	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TCGCTGCGCTCCATGATCTCT	0.612000													26	40					0	0	0.006320	0	0
NCOA3	8202	broad.mit.edu	37	20	46276050	46276050	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:46276050C>T	ENST00000372004.3	+	18	3702	c.3486C>T	c.(3484-3486)ccC>ccT	p.P1162P	NCOA3_ENST00000341724.6_Silent_p.P1092P|NCOA3_ENST00000371997.3_Silent_p.P1157P|NCOA3_ENST00000371998.3_Silent_p.P1162P	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1162	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCATGAGACCCCGGACAAACA	0.502000													35	47					0	0	0.004289	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85431957	85431957	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:85431957G>A	ENST00000393217.2	+	2	64	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1										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)		GAAGAATAATGGACGATGATG	0.333000													10	18					0	0	0.008291	0	0
PEG3	5178	broad.mit.edu	37	19	57327369	57327369	+	Missense_Mutation	SNP	T	T	C	rs147407205		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57327369T>C	ENST00000326441.9	-	10	2804	c.2441A>G	c.(2440-2442)aAc>aGc	p.N814S	PEG3_ENST00000593695.1_Missense_Mutation_p.N688S|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.N814S|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.N690S|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	814					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTCTGATGGTTGATAGCATC	0.478000													55	84					0	0	0.003610	0	0
BTBD16	118663	broad.mit.edu	37	10	124050611	124050611	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124050611G>A	ENST00000368994.2	+	7	746	c.495G>A	c.(493-495)ctG>ctA	p.L165L	BTBD16_ENST00000260723.4_Silent_p.L164L			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	164	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCACGGCCCTGAAGAACCTCT	0.597000													30	89					0	0	0.002096	0	0
LMTK2	22853	broad.mit.edu	37	7	97814435	97814435	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:97814435C>T	ENST00000297293.5	+	8	1157	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	288	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAATAGGATTCAGCAGGTACA	0.398000													12	25					0	0	0.001368	0	0
PNPLA6	10908	broad.mit.edu	37	19	7614993	7614993	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:7614993C>T	ENST00000221249.6	+	17	2123	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000600737.1_Silent_p.F603F|PNPLA6_ENST00000545201.2_Silent_p.F538F|PNPLA6_ENST00000450331.3_Silent_p.F564F|PNPLA6_ENST00000414982.3_Silent_p.F612F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	603					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGTCCGACTTCTATGAGTATG	0.607000													33	55					0	0	0.003755	0	0
PDGFRA	5156	broad.mit.edu	37	4	55129833	55129833	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:55129833G>A	ENST00000257290.5	+	4	698		c.e4-1		FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Splice_Site	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide						cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTAAACCACAGACCCAGATGT	0.378000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			45	56					0	0	0.003610	0	0
C3orf22	152065	broad.mit.edu	37	3	126268752	126268752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:126268752G>A	ENST00000318225.2	-	4	763	c.385C>T	c.(385-387)Cag>Tag	p.Q129*		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	129										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TTGCTGGTCTGGGGGCAGGCA	0.627000													4	24					0	0	0.000248	0	0
THOP1	7064	broad.mit.edu	37	19	2811680	2811680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:2811680C>T	ENST00000307741.6	+	12	2059	c.1856C>T	c.(1855-1857)tCc>tTc	p.S619F	THOP1_ENST00000395212.4_Missense_Mutation_p.S130F|THOP1_ENST00000586677.1_Missense_Mutation_p.S498F	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	619					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		GAGGTGTATTCCATGGACATG	0.612000													26	41					0	0	0.004656	0	0
ACSS3	79611	broad.mit.edu	37	12	81613831	81613831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:81613831G>A	ENST00000548058.1	+	11	2400	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	ACSS3_ENST00000261206.3_Missense_Mutation_p.R496Q|ACSS3_ENST00000548324.1_Missense_Mutation_p.R179Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	497						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTGAAGGCTCGGTGTTTAGGA	0.269000													18	41					0	0	0.008871	0	0
ENTPD1	953	broad.mit.edu	37	10	97599452	97599452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:97599452G>A	ENST00000371207.3	+	3	248	c.185G>A	c.(184-186)gGg>gAg	p.G62E	RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000371205.4_Missense_Mutation_p.G50E|ENTPD1_ENST00000543964.1_5'UTR|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000453258.2_Missense_Mutation_p.G57E	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	50					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TTTCAGTATGGGATTGTGCTG	0.408000													57	89					0	0	0.003610	0	0
TENC1	23371	broad.mit.edu	37	12	53453118	53453118	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:53453118G>T	ENST00000314250.6	+	18	1983	c.1693G>T	c.(1693-1695)Gat>Tat	p.D565Y	TENC1_ENST00000546602.1_Missense_Mutation_p.D565Y|TENC1_ENST00000451358.1_Missense_Mutation_p.D565Y|TENC1_ENST00000552570.1_Missense_Mutation_p.D565Y|TENC1_ENST00000549700.1_Missense_Mutation_p.D565Y|TENC1_ENST00000314276.3_Missense_Mutation_p.D575Y|TENC1_ENST00000379902.3_Missense_Mutation_p.D441Y	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	565					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCCATCCTAGATGACGAAGA	0.697000													8	9					5.4927e-09	6.09592e-09	0.004482	1	0
OR51D1	390038	broad.mit.edu	37	11	4661336	4661336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:4661336G>A	ENST00000357605.2	+	1	392	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGGAGATCGAGTTCAACAT	0.532000													19	34					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9024193	9024193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9024193C>T	ENST00000397910.4	-	18	37282	c.37079G>A	c.(37078-37080)gGg>gAg	p.G12360E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12362					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						TGTGGAGGTCCCAGGAGCTGA	0.483000													7	15					0	0	0.003080	0	0
ASNSD1	54529	broad.mit.edu	37	2	190535412	190535412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:190535412C>T	ENST00000260952.4	+	6	2305	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	ASNSD1_ENST00000607062.1_Missense_Mutation_p.S150F	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	631					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CAAATCATGTCCTTAGAAAAT	0.299000													21	25					0	0	0.001882	0	0
MUC17	140453	broad.mit.edu	37	7	100675956	100675956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100675956C>T	ENST00000306151.4	+	3	1323	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	420	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTTGACTCCAAAACTTTT	0.468000													99	153					0	0	0.003610	0	0
OR6B3	150681	broad.mit.edu	37	2	240984548	240984548	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:240984548C>T	ENST00000319423.4	-	1	941	c.942G>A	c.(940-942)ggG>ggA	p.G314G		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TAGAAAGCCTCCCCTCTACGG	0.458000													42	113					0	0	0.008740	0	0
MCOLN2	255231	broad.mit.edu	37	1	85424294	85424294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:85424294G>A	ENST00000370608.3	-	3	396	c.329C>T	c.(328-330)tCt>tTt	p.S110F	MCOLN2_ENST00000284027.5_Missense_Mutation_p.S82F|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	110						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		ATCTGTACCAGAATATCCTTT	0.363000													46	69					0	0	0.002522	0	0
KCNQ2	3785	broad.mit.edu	37	20	62045536	62045536	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:62045536G>A	ENST00000354587.3	-	12	1628	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	KCNQ2_ENST00000359125.2_Silent_p.L512L|KCNQ2_ENST00000360480.3_Silent_p.L484L|KCNQ2_ENST00000370226.1_Silent_p.L482L|KCNQ2_ENST00000430658.1_Silent_p.L481L|KCNQ2_ENST00000359689.1_Silent_p.L512L|KCNQ2_ENST00000344462.3_Silent_p.L472L|KCNQ2_ENST00000370224.1_Silent_p.L484L|KCNQ2_ENST00000357249.2_Silent_p.L494L|KCNQ2_ENST00000370222.3_Silent_p.L484L			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	512					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCTCTCCGGGGAGGCTTGCTT	0.657000													20	27					0	0	0.001523	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648613	62648613	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:62648613G>A	ENST00000337910.5	-	6	1150	c.813C>T	c.(811-813)atC>atT	p.I271I	RHOBTB1_ENST00000357917.4_Silent_p.I271I	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	271	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GGTCCTGAAGGATGAACAGAA	0.443000													41	44					0	0	0.008740	0	0
KDM6B	23135	broad.mit.edu	37	17	7750890	7750890	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:7750890C>T	ENST00000254846.5	+	11	1673	c.1284C>T	c.(1282-1284)ccC>ccT	p.P428P	KDM6B_ENST00000448097.2_Silent_p.P428P	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	428	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P428P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCAAACTCCCGCGCTGGAGG	0.652000													7	13					0	0	0.004482	0	0
NBEAL1	65065	broad.mit.edu	37	2	204034557	204034557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:204034557G>A	ENST00000449802.1	+	38	6331	c.5998G>A	c.(5998-6000)Gca>Aca	p.A2000T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2000	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTTATTCAAAGCATCAGGATT	0.338000													77	251					0	0	0.003610	0	0
ANO5	203859	broad.mit.edu	37	11	22248924	22248924	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:22248924T>G	ENST00000324559.8	+	7	757	c.440T>G	c.(439-441)tTg>tGg	p.L147W		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	147						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGAAGTCTTGGGAATCAAA	0.433000													14	60					0	0	0.001855	0	0
BZW2	28969	broad.mit.edu	37	7	16734576	16734576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:16734576G>A	ENST00000433922.2	+	8	947	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	BZW2_ENST00000258761.3_Missense_Mutation_p.E257K|BZW2_ENST00000405202.1_Missense_Mutation_p.E181K|BZW2_ENST00000407633.1_Missense_Mutation_p.E63K|BZW2_ENST00000452975.2_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	257	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CACCAGGAAGGAACTGCAGAA	0.532000													31	38					0	0	0.001786	0	0
EPHA1	2041	broad.mit.edu	37	7	143097141	143097141	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143097141G>A	ENST00000275815.3	-	4	524	c.438C>T	c.(436-438)acC>acT	p.T146T		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	146						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGCCACCGTGGTTACCTGGG	0.542000													18	26					0	0	0.008871	0	0
CTSS	1520	broad.mit.edu	37	1	150724443	150724443	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:150724443G>A	ENST00000368985.3	-	5	701	c.441C>T	c.(439-441)gcC>gcT	p.A147A	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.A97A	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	147					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTGCTTCCAGGGCCCCCACAG	0.478000													20	36					0	0	0.008871	0	0
OR51L1	119682	broad.mit.edu	37	11	5020453	5020453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5020453C>T	ENST00000321543.1	+	1	241	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTACACTTCCCACCATGCT	0.473000													25	99					0	0	0.003330	0	0
PEAR1	375033	broad.mit.edu	37	1	156882722	156882722	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:156882722G>A	ENST00000338302.3	+	19	2595	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L	PEAR1_ENST00000292357.7_Silent_p.L790L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	790						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCACCACCTGGCTGTGGCTT	0.612000													40	52					0	0	0.002852	0	0
C12orf56	115749	broad.mit.edu	37	12	64668746	64668746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:64668746C>T	ENST00000543942.2	-	11	2145	c.1519G>A	c.(1519-1521)Gga>Aga	p.G507R	C12orf56_ENST00000333722.5_Missense_Mutation_p.G347R|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	510										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GATCCCAATCCGAGATTTCCC	0.343000													30	67					0	0	0.008361	0	0
VWF	7450	broad.mit.edu	37	12	6125984	6125984	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:6125984G>A	ENST00000261405.5	-	29	5360	c.5106C>T	c.(5104-5106)ttC>ttT	p.F1702F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1702	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AAGAAGCTGGGAAACTGGAGG	0.522000													57	96					0	0	0.003610	0	0
CTNND2	1501	broad.mit.edu	37	5	10981905	10981905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:10981905C>T	ENST00000304623.8	-	21	3586	c.3397G>A	c.(3397-3399)Gaa>Aaa	p.E1133K	CTNND2_ENST00000511377.1_Missense_Mutation_p.E1042K|CTNND2_ENST00000503622.1_Missense_Mutation_p.E796K|CTNND2_ENST00000359640.2_Missense_Mutation_p.E1075K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.E700K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1133					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTGATGTCTTCAGCGGGCGCA	0.338000													24	124					0	0	0.002299	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456253	84456253	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:84456253G>T	ENST00000416219.2	+	9	882	c.793G>T	c.(793-795)Ggg>Tgg	p.G265W	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.G265W			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	265					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GATTGGAACAGGGGAAAGCTC	0.547000													33	175					3.93418e-24	4.4069e-24	0.004289	1	0
FAM63A	55793	broad.mit.edu	37	1	150975030	150975030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:150975030G>A	ENST00000361936.5	-	3	1018	c.64C>T	c.(64-66)Cct>Tct	p.P22S	FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.P70S|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Intron	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	22							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGTTTTCAGGGATGACTGCT	0.572000													49	119					0	0	0.003610	0	0
CYP4X1	260293	broad.mit.edu	37	1	47501543	47501543	+	Silent	SNP	G	G	A	rs114519235	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47501543G>A	ENST00000371901.3	+	5	808	c.558G>A	c.(556-558)tcG>tcA	p.S186S	CYP4X1_ENST00000538609.1_Silent_p.S185S	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	186						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACATCAACTCGATGTCTCTGG	0.468000													18	33					0	0	0.008871	0	0
FBN1	2200	broad.mit.edu	37	15	48802295	48802295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:48802295G>A	ENST00000316623.5	-	14	2115	c.1660C>T	c.(1660-1662)Cat>Tat	p.H554Y		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	554	EGF-like 8; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.H554N(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACACGCAATGAAAACTGCCA	0.383000													7	34					0	0	0.001984	0	0
LRRN4	164312	broad.mit.edu	37	20	6022042	6022042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:6022042C>T	ENST00000378858.4	-	5	2073	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	617	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GCCCAGCCCTCCGCAGAGTAG	0.692000													11	39					0	0	0.001855	0	0
ZFX	7543	broad.mit.edu	37	X	24228474	24228474	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:24228474A>T	ENST00000379177.1	+	11	1826	c.1399A>T	c.(1399-1401)Aag>Tag	p.K467*	ZFX_ENST00000539115.1_Nonsense_Mutation_p.K238*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.K417*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.K506*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.K467*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.K467*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CACTACCAACAAGAAGATAAG	0.453000													37	6					0	0	0.004289	0	0
PAIP1	10605	broad.mit.edu	37	5	43529903	43529903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:43529903G>A	ENST00000306846.3	-	10	1563	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000338972.4_Missense_Mutation_p.S332F|PAIP1_ENST00000436644.2_Missense_Mutation_p.S365F	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	444	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ACCAGCCCCGGATAAATCTGT	0.353000													31	61					0	0	0.003271	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453283	25453283	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:25453283C>T	ENST00000424208.1	+	0	2384				SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.522000													95	150					0	0	0.003610	0	0
CFTR	1080	broad.mit.edu	37	7	117230474	117230474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:117230474G>A	ENST00000003084.6	+	13	1879	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	CFTR_ENST00000454343.1_Missense_Mutation_p.E522K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	583	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGTTTTAACAGAAAAAGAAAT	0.284000									Cystic Fibrosis				28	59					0	0	0.002836	0	0
OGFR	11054	broad.mit.edu	37	20	61443801	61443801	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:61443801C>T	ENST00000370461.1	+	5	2955	c.678C>T	c.(676-678)ttC>ttT	p.F226F	OGFR_ENST00000370468.3_Silent_p.F278F|OGFR_ENST00000290291.6_Silent_p.F278F			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	278					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGGAGCACTTCCGGCCCCGCT	0.682000													4	4					0	0	0.000248	0	0
CACNA1C	775	broad.mit.edu	37	12	2705123	2705123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:2705123C>T	ENST00000399655.1	+	20	3012	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	CACNA1C_ENST00000399591.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S916F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S916F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S916F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S916F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S941F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S916F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S916F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	916					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGCAGCATTTCCCTGGCTGCT	0.582000													21	41					0	0	0.001523	0	0
GLRA2	2742	broad.mit.edu	37	X	14627222	14627222	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:14627222C>T	ENST00000218075.4	+	7	1355	c.825C>T	c.(823-825)tcC>tcT	p.S275S	GLRA2_ENST00000443437.2_Silent_p.S186S|GLRA2_ENST00000355020.4_Silent_p.S275S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	275					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CCTGGGTTTCCTTTTGGATAA	0.488000													67	24					0	0	0.003610	0	0
OR8H3	390152	broad.mit.edu	37	11	55890323	55890323	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55890323A>C	ENST00000313472.3	+	1	475	c.475A>C	c.(475-477)Aat>Cat	p.N159H		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTCCTTTGTCAATGTGGTTTC	0.443000													62	87					0	0	0.003610	0	0
PARD3	56288	broad.mit.edu	37	10	34606123	34606123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:34606123C>T	ENST00000374789.3	-	20	3311	c.2986G>A	c.(2986-2988)Gga>Aga	p.G996R	PARD3_ENST00000374773.1_Missense_Mutation_p.G963R|PARD3_ENST00000544292.1_Missense_Mutation_p.G709R|PARD3_ENST00000545693.1_Missense_Mutation_p.G980R|PARD3_ENST00000545260.1_Missense_Mutation_p.G906R|PARD3_ENST00000346874.4_Missense_Mutation_p.G996R|PARD3_ENST00000374788.3_Missense_Mutation_p.G993R|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374794.3_Missense_Mutation_p.G921R|PARD3_ENST00000350537.4_Missense_Mutation_p.G950R|PARD3_ENST00000340077.5_Missense_Mutation_p.G993R|PARD3_ENST00000374790.3_Missense_Mutation_p.G936R|PARD3_ENST00000374776.1_Missense_Mutation_p.G950R	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	996	Lys-rich.			GKEKK -> VELHE (in Ref. 7; BAA91366).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ttttcttttccagttttatcc	0.408000													10	33					0	0	0.006214	0	0
PTPN5	84867	broad.mit.edu	37	11	18754142	18754142	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:18754142G>A	ENST00000396170.1	-	12	2494	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	PTPN5_ENST00000396167.2_Silent_p.L410L|PTPN5_ENST00000477854.1_Silent_p.L246L|PTPN5_ENST00000396171.4_Silent_p.L442L|PTPN5_ENST00000358540.2_Silent_p.L442L|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Silent_p.L418L	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	442	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GCCTCACCTTGAGGGAGATGA	0.587000											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	117					0	0	0.007291	0	0
NF1	4763	broad.mit.edu	37	17	29665053	29665053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:29665053C>T	ENST00000358273.4	+	45	7098	c.6715C>T	c.(6715-6717)Caa>Taa	p.Q2239*	NF1_ENST00000444181.2_Nonsense_Mutation_p.Q32*|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q2218*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2239					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTTGCATTCCAATATAATCC	0.328000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			39	42					0	0	0.006230	0	0
AGXT	189	broad.mit.edu	37	2	241813456	241813456	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:241813456C>T	ENST00000307503.3	+	6	1044	c.657C>T	c.(655-657)ctC>ctT	p.L219L		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	219					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGACCTCGCTCATCTCCTTCA	0.647000													8	39					0	0	0.008291	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806859	97806859	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:97806859G>A	ENST00000358642.2	+	1	843	c.843G>A	c.(841-843)acG>acA	p.T281T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TGTTTTACACGATTATAATTC	0.378000													6	49					0	0	0.001168	0	0
SLC25A3	5250	broad.mit.edu	37	12	98987795	98987795	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:98987795C>T	ENST00000188376.5	+	1	393	c.39C>T	c.(37-39)ccC>ccT	p.P13P	SLC25A3_ENST00000548847.1_Silent_p.P13P|SLC25A3_ENST00000401722.3_Silent_p.P13P|SLC25A3_ENST00000549338.1_Silent_p.P13P|SLC25A3_ENST00000552981.1_Silent_p.P13P|SLC25A3_ENST00000551265.1_Silent_p.P13P|SLC25A3_ENST00000551917.1_Silent_p.P13P|SLC25A3_ENST00000228318.3_Silent_p.P13P|SLC25A3_ENST00000547534.1_Silent_p.P13P	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	13					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GGGCGAACCCCTTCAACACGC	0.682000													11	27					0	0	0.001368	0	0
KCTD6	200845	broad.mit.edu	37	3	58486761	58486761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:58486761G>A	ENST00000355076.6	+	2	1099	c.116G>A	c.(115-117)gGa>gAa	p.G39E	KCTD6_ENST00000490264.1_Missense_Mutation_p.G39E|KCTD6_ENST00000404589.3_Missense_Mutation_p.G39E|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	39	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TCCATGCTTGGAGCTATGTTT	0.458000													36	116					0	0	0.006230	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938798	2938798	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:2938798A>C	ENST00000378404.2	+	1	753	c.548A>C	c.(547-549)cAc>cCc	p.H183P		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	183						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		ACCAAGCTCCACGTGGCGGGC	0.657000													18	32					0	0	0.007413	0	0
DCC	1630	broad.mit.edu	37	18	50866254	50866254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:50866254G>A	ENST00000442544.2	+	15	2952	c.2336G>A	c.(2335-2337)cGa>cAa	p.R779Q	DCC_ENST00000412726.1_Missense_Mutation_p.R627Q|DCC_ENST00000581580.1_Missense_Mutation_p.R434Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	779	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCAAGCAGCGATATTATTCC	0.398000													7	30					0	0	0.001984	0	0
OR56A3	390083	broad.mit.edu	37	11	5968909	5968909	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5968909C>T	ENST00000329564.6	+	1	340	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAATTGTTTCCTAGCCATGG	0.493000													59	93					0	0	0.003610	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820755	35820755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:35820755G>A	ENST00000399989.1	+	2	721	c.442G>A	c.(442-444)Gag>Aag	p.E148K	MAGEB16_ENST00000399985.1_Missense_Mutation_p.E148K|MAGEB16_ENST00000399988.1_Missense_Mutation_p.E148K|MAGEB16_ENST00000399992.1_Missense_Mutation_p.E180K|MAGEB16_ENST00000399987.1_Missense_Mutation_p.E148K	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	148	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CAAAGATGATGAGAGCCACTT	0.448000													44	12					0	0	0.002852	0	0
DEFA6	1671	broad.mit.edu	37	8	6783482	6783482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:6783482C>T	ENST00000297436.2	-	1	116	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	26					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AGTGGATCATCCTCAGCTTGG	0.582000													11	23					0	0	0.008291	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60990935	60990935	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:60990935G>A	ENST00000252998.1	-	7	609	c.453C>T	c.(451-453)tcC>tcT	p.S151S		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		AGCCACCAGGGGAGGGGAGCA	0.692000													7	16					0	0	0.003080	0	0
CSMD1	64478	broad.mit.edu	37	8	2910139	2910139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:2910139C>T	ENST00000602557.1	-	51	8063	c.7508G>A	c.(7507-7509)gGa>gAa	p.G2503E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2503E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2502E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2503E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2502E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2503E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2503	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAACCGTTTCCTGGGGATTC	0.418000													13	19					0	0	0.007413	0	0
RGS7	6000	broad.mit.edu	37	1	241099944	241099944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:241099944G>A	ENST00000366565.1	-	5	670	c.289C>T	c.(289-291)Cat>Tat	p.H97Y	RGS7_ENST00000407727.1_Missense_Mutation_p.H97Y|RGS7_ENST00000366562.4_Missense_Mutation_p.H97Y|RGS7_ENST00000331110.7_Missense_Mutation_p.H71Y|RGS7_ENST00000366563.1_Missense_Mutation_p.H97Y|RGS7_ENST00000366564.1_Missense_Mutation_p.H97Y|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000446183.2_Missense_Mutation_p.H13Y|RGS7_ENST00000348120.2_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	97	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTGAGGACATGATCTGAGATT	0.398000													64	101					0	0	0.003610	0	0
FOSB	2354	broad.mit.edu	37	19	45975997	45975997	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:45975997G>A	ENST00000353609.3	+	4	1336	c.744G>A	c.(742-744)aaG>aaA	p.K248K	FOSB_ENST00000586615.1_Silent_p.K199K|FOSB_ENST00000592811.1_Intron|FOSB_ENST00000592436.1_Intron|FOSB_ENST00000585836.1_Silent_p.K173K|FOSB_ENST00000591858.1_Silent_p.K209K|FOSB_ENST00000443841.2_Silent_p.K105K|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000417353.2_Silent_p.K212K	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	248					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CACCGGCTAAGGAAGATGGCT	0.677000													12	30					0	0	0.000978	0	0
CENPV	201161	broad.mit.edu	37	17	16256435	16256435	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:16256435G>A	ENST00000299736.4	-	1	378	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L	CENPV_ENST00000476243.1_5'UTR	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	109					cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity			endometrium(1)|large_intestine(2)	3						CCCAGGTCCAGGTTGGACGCC	0.731000													3	17					0	0	0.000248	0	0
IPCEF1	26034	broad.mit.edu	37	6	154567864	154567864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:154567864G>A	ENST00000265198.4	-	5	259	c.104C>T	c.(103-105)tCg>tTg	p.S35L	IPCEF1_ENST00000367220.4_Missense_Mutation_p.S36L|IPCEF1_ENST00000519344.1_Missense_Mutation_p.S7L|IPCEF1_ENST00000422970.2_Missense_Mutation_p.S36L|OPRM1_ENST00000337049.4_Missense_Mutation_p.R401Q	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ATCTTTACACGATATCCTCCT	0.403000													28	42					0	0	0.007291	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408447	2408447	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:2408447C>T	ENST00000332578.3	+	7	834	c.834C>T	c.(832-834)atC>atT	p.I278I		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	278	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGGTCCAGATCGTCAAGCACC	0.667000													31	58					0	0	0.003271	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95442568	95442568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:95442568C>T	ENST00000324972.6	+	4	477	c.284C>T	c.(283-285)cCt>cTt	p.P95L	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P78L|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P78L|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P78L|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P78L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P95L|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.P78L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	95	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GTCCCAACCCCTATGTCTCCC	0.458000													30	47					0	0	0.007291	0	0
AMZ1	155185	broad.mit.edu	37	7	2752457	2752457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:2752457G>A	ENST00000312371.4	+	7	1810	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	481							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTGAGTGCCCGAAAACTCGCC	0.657000													29	31					0	0	0.002836	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145726099	145726099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:145726099G>A	ENST00000292539.4	+	8	1779	c.862G>A	c.(862-864)Ggg>Agg	p.G288R	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.G288R			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	288						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGTGGCGCACGGGGCCGACCT	0.721000													22	24					0	0	0.003330	0	0
PASD1	139135	broad.mit.edu	37	X	150832597	150832597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:150832597C>T	ENST00000370357.4	+	11	1093	c.848C>T	c.(847-849)tCc>tTc	p.S283F		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	283						nucleus	signal transducer activity	p.S283F(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCCTTATCCTTGCAAGAC	0.473000													40	11					0	0	0.002222	0	0
DNAH11	8701	broad.mit.edu	37	7	21678570	21678570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:21678570G>A	ENST00000328843.6	+	28	4877	c.4846G>A	c.(4846-4848)Gaa>Aaa	p.E1616K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E1611K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1616	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCTCTTTGTGAAAAAGCTCT	0.398000									Kartagener syndrome				35	69					0	0	0.003271	0	0
NAT10	55226	broad.mit.edu	37	11	34161016	34161016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:34161016G>A	ENST00000257829.3	+	23	2599	c.2393G>A	c.(2392-2394)aGg>aAg	p.R798K	NAT10_ENST00000531159.2_Missense_Mutation_p.R726K|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	798	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ATTCAGAACAGGAACATGGGG	0.592000													31	111					0	0	0.002096	0	0
IL1RN	3557	broad.mit.edu	37	2	113890433	113890433	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:113890433C>T	ENST00000361779.3	+	6	762	c.417C>T	c.(415-417)ttC>ttT	p.F139F	IL1RN_ENST00000354115.2_Silent_p.F155F|IL1RN_ENST00000409930.3_Silent_p.F173F|IL1RN_ENST00000409052.1_Silent_p.F139F|IL1RN_ENST00000259206.5_Silent_p.F176F	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	173					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	AATTCTACTTCCAGGAGGACG	0.607000									Lichen Sclerosis et Atrophicus, Familial Clustering of				40	46					0	0	0.008740	0	0
MICALL2	79778	broad.mit.edu	37	7	1484874	1484874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:1484874C>T	ENST00000297508.7	-	6	1007	c.832G>A	c.(832-834)Gag>Aag	p.E278K	MICALL2_ENST00000405088.4_Missense_Mutation_p.E66K	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	278						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTGTTTGCCTCCTGGGCCTTC	0.677000													7	18					0	0	0.003080	0	0
TLR4	7099	broad.mit.edu	37	9	120475597	120475597	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:120475597G>A	ENST00000355622.6	+	3	1292	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.G357G	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	397					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTGATTTTGGGACAACCAGCC	0.393000													18	7					0	0	0.004990	0	0
DDX3X	1654	broad.mit.edu	37	X	41203370	41203370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:41203370G>A	ENST00000399959.2	+	9	1708	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	DDX3X_ENST00000542215.1_Missense_Mutation_p.G300E|DDX3X_ENST00000457138.2_Missense_Mutation_p.E269K|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	285	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GATCTACGAGGAAGCCAGAAA	0.363000										HNSCC(61;0.18)			6	3					0	0	0.001984	0	0
FAM213A	84293	broad.mit.edu	37	10	82185750	82185750	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:82185750C>T	ENST00000372181.1	+	3	869	c.399C>T	c.(397-399)ttC>ttT	p.F133F	FAM213A_ENST00000372187.5_Silent_p.F133F|FAM213A_ENST00000372185.1_Silent_p.F122F|FAM213A_ENST00000372188.1_Silent_p.F133F	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	133						extracellular region											GAGAAATCTTCCTGGATGAAA	0.512000													17	70					0	0	0.008871	0	0
TFEB	7942	broad.mit.edu	37	6	41652539	41652539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:41652539G>A	ENST00000230323.4	-	10	1530	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	TFEB_ENST00000358871.2_Missense_Mutation_p.P424L|TFEB_ENST00000420312.1_Missense_Mutation_p.P325L|TFEB_ENST00000373033.1_Missense_Mutation_p.P410L|TFEB_ENST00000403298.4_Missense_Mutation_p.P410L	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	410	Pro-rich.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GTAGCCCGGGGGACCCTCGTC	0.672000			T	ALPHA	renal (childhood epithelioid)								16	34					0	0	0.006122	0	0
FREM2	341640	broad.mit.edu	37	13	39264977	39264977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:39264977C>T	ENST00000280481.7	+	1	3712	c.3496C>T	c.(3496-3498)Cgt>Tgt	p.R1166C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1166					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTTGTATTTCGTTGTTCTGA	0.418000													49	103					0	0	0.003610	0	0
DAPK1	1612	broad.mit.edu	37	9	90321520	90321520	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:90321520C>T	ENST00000469640.2	+	27	3984	c.3609C>T	c.(3607-3609)aaC>aaT	p.N1203N	DAPK1_ENST00000491893.1_Silent_p.N1112N|DAPK1_ENST00000408954.3_Silent_p.N1178N|DAPK1_ENST00000358077.5_Silent_p.N1178N|DAPK1_ENST00000472284.1_Silent_p.N1178N			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1178					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGCTGGCCAACCGTGGGGCCG	0.642000									Chronic Lymphocytic Leukemia, Familial Clustering of				10	5					0	0	0.006214	0	0
OR4C16	219428	broad.mit.edu	37	11	55340347	55340347	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55340347C>T	ENST00000314634.3	+	1	744	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCATCTTGTTCTTTGGACCTT	0.403000													31	28					0	0	0.002445	0	0
SHROOM3	57619	broad.mit.edu	37	4	77676179	77676179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:77676179C>T	ENST00000296043.6	+	7	5496	c.4543C>T	c.(4543-4545)Ccc>Tcc	p.P1515S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1515					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGATCCGCACCCCAAGGCCAC	0.587000													26	41					0	0	0.008361	0	0
RGS18	64407	broad.mit.edu	37	1	192153614	192153614	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:192153614G>T	ENST00000367460.3	+	5	819	c.638G>T	c.(637-639)aGg>aTg	p.R213M		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	213					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAAATCTTAGGAGACGATCA	0.363000													32	35					6.04164e-23	6.76555e-23	0.002096	1	0
OR6C2	341416	broad.mit.edu	37	12	55846322	55846322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:55846322G>A	ENST00000322678.1	+	1	325	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGGAGCAACAGAATTTTTTCT	0.403000													59	77					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9057605	9057605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9057605C>T	ENST00000397910.4	-	3	30044	c.29841G>A	c.(29839-29841)atG>atA	p.M9947I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9949	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						ATTCTGACATCATGGATGAGG	0.478000													129	190					0	0	0.003610	0	0
PKD1L1	168507	broad.mit.edu	37	7	47880064	47880064	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:47880064G>A	ENST00000289672.2	-	35	5597	c.5547C>T	c.(5545-5547)atC>atT	p.I1849I		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1849	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AATACCTCAGGATAAAGGTGT	0.403000													13	47					0	0	0.001368	0	0
FAM170A	340069	broad.mit.edu	37	5	118969733	118969733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:118969733C>T	ENST00000515256.1	+	3	462	c.290C>T	c.(289-291)cCc>cTc	p.P97L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	97						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GAGACTCCTCCCCGCTCACAA	0.483000													26	26					0	0	0.004656	0	0
SNTG1	54212	broad.mit.edu	37	8	51617288	51617288	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:51617288C>T	ENST00000522124.1	+	16	1828	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	SNTG1_ENST00000517473.1_Silent_p.T389T|SNTG1_ENST00000518864.1_Silent_p.T389T|SNTG1_ENST00000276467.5_Silent_p.T389T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	389	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGACAGCAACCTTTCTAGAAG	0.522000													18	23					0	0	0.007413	0	0
FRAS1	80144	broad.mit.edu	37	4	79205703	79205703	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:79205703G>A	ENST00000264895.6	+	13	1839		c.e13+1		FRAS1_ENST00000325942.6_Splice_Site|FRAS1_ENST00000264899.6_Splice_Site	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1						cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTCTGTTTAGGTATGGCTCCA	0.498000													38	72					0	0	0.004289	0	0
SLC36A3	285641	broad.mit.edu	37	5	150682794	150682794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:150682794C>T	ENST00000335230.3	-	1	533	c.122G>A	c.(121-123)gGa>gAa	p.G41E	SLC36A3_ENST00000377713.3_Missense_Mutation_p.G41E	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	41						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)			TTACGATAGTCCAGCTTCTCC	0.512000													6	41					0	0	0.001984	0	0
COL6A3	1293	broad.mit.edu	37	2	238259801	238259801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:238259801C>T	ENST00000295550.4	-	27	7240	c.6788G>A	c.(6787-6789)cGa>cAa	p.R2263Q	COL6A3_ENST00000409809.1_Missense_Mutation_p.R2057Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.R2057Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R2062Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R2063Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1656Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2263	Collagen-like 4.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTTCTGCCTCGTTCTCCAGG	0.567000													28	33					0	0	0.002096	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65235725	65235725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:65235725G>A	ENST00000380230.3	+	11	1041	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.D338N|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.D338N|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.D247N	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	338					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CGCCTGGCAGGACATAGCAGA	0.552000													124	198					0	0	0.003610	0	0
UNC93A	54346	broad.mit.edu	37	6	167711546	167711546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:167711546G>A	ENST00000230256.3	+	4	788	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	UNC93A_ENST00000366829.2_Intron	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	205						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CACCCTCCTGGGCATCTACAC	0.617000													29	44					0	0	0.002445	0	0
NLRP5	126206	broad.mit.edu	37	19	56539218	56539218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56539218G>A	ENST00000390649.3	+	7	1619	c.1619G>A	c.(1618-1620)tGg>tAg	p.W540*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	540	NACHT.					mitochondrion|nucleolus	ATP binding	p.W540*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGGGAGTGTGGAATAGGAAG	0.552000													9	19					0	0	0.006214	0	0
P4HA1	5033	broad.mit.edu	37	10	74806829	74806829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:74806829G>A	ENST00000412021.2	-	9	1264	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	P4HA1_ENST00000263556.3_Missense_Mutation_p.R311C|P4HA1_ENST00000307116.2_Missense_Mutation_p.R311C|P4HA1_ENST00000373008.2_Missense_Mutation_p.R311C|P4HA1_ENST00000394890.2_Missense_Mutation_p.R311C|P4HA1_ENST00000440381.1_Missense_Mutation_p.R311C	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	311						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATGGTAGCGGCAAAAGAGT	0.353000													19	24					0	0	0.008871	0	0
ITGA8	8516	broad.mit.edu	37	10	15639292	15639292	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:15639292G>A	ENST00000378076.3	-	21	2478	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	709					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTCAGTGGTCGAAATCCCTAC	0.502000													12	66					0	0	0.000978	0	0
C1QL3	389941	broad.mit.edu	37	10	16562764	16562764	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:16562764G>A	ENST00000298943.3	-	1	1240	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	101	Collagen-like.|Pro-rich.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						gggcccggcAGGCCTTGGCGG	0.806000													3	2					0	0	0.000602	0	0
HOXA2	3199	broad.mit.edu	37	7	27142044	27142044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:27142044G>A	ENST00000222718.5	-	1	386	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	26						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GCGACAGGGGGAAAAGATGTC	0.498000													20	104					0	0	0.008871	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324626	61324626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61324626G>A	ENST00000283752.5	-	6	633	c.490C>T	c.(490-492)Cct>Tct	p.P164S	SERPINB3_ENST00000332821.8_Missense_Mutation_p.P164S|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	164					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTACCTTCAGGAATTAGGTTT	0.353000													31	39					0	0	0.002445	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616562	1616562	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:1616562G>A	ENST00000421627.2	+	6	1772	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	625					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCAAGCCTCTGATCTCGGTGA	0.612000													4	9					0	0	0.000248	0	0
EFCAB6	64800	broad.mit.edu	37	22	43950943	43950943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:43950943C>T	ENST00000262726.7	-	27	3707	c.3454G>A	c.(3454-3456)Ggc>Agc	p.G1152S	EFCAB6_ENST00000396231.2_Missense_Mutation_p.G1000S|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGCGGCGGGCCTTTGGGCATT	0.532000													11	60					0	0	0.001855	0	0
KRT33B	3884	broad.mit.edu	37	17	39522799	39522799	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:39522799G>A	ENST00000251646.3	-	3	560	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	171	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GACCTGCACAGGGTCAGCTCA	0.602000													38	52					0	0	0.006230	0	0
PF4	5196	broad.mit.edu	37	4	74847172	74847172	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:74847172C>T	ENST00000296029.3	-	2	350	c.180G>A	c.(178-180)gtG>gtA	p.V60V		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	60					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	CGGCCTTGATCACCTCCAGGC	0.622000													8	40					0	0	0.006214	0	0
FNDC1	84624	broad.mit.edu	37	6	159636168	159636168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:159636168G>A	ENST00000297267.9	+	5	852	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	FNDC1_ENST00000340366.6_Missense_Mutation_p.E218K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	218	Fibronectin type-III 2.					extracellular region		p.E218K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACGGACACACGAAATTAAAAA	0.433000													30	48					0	0	0.002445	0	0
CDH12	1010	broad.mit.edu	37	5	21755927	21755927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:21755927C>T	ENST00000382254.1	-	14	2744	c.1658G>A	c.(1657-1659)cGa>cAa	p.R553Q	CDH12_ENST00000504376.2_Missense_Mutation_p.R553Q|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.R513Q|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	553	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCATTTCTTCGGGTTTCAAT	0.428000										HNSCC(59;0.17)			27	39					0	0	0.002096	0	0
NOM1	64434	broad.mit.edu	37	7	156746923	156746923	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:156746923C>T	ENST00000275820.3	+	3	1254	c.1239C>T	c.(1237-1239)gcC>gcT	p.A413A	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	413	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTGCCTCGGCCATGCCCAGCA	0.547000													18	30					0	0	0.007413	0	0
TMC5	79838	broad.mit.edu	37	16	19505676	19505676	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:19505676G>A	ENST00000396229.2	+	20	3668	c.2919G>A	c.(2917-2919)agG>agA	p.R973R	TMC5_ENST00000381414.4_Silent_p.R915R|TMC5_ENST00000564959.1_Silent_p.R656R|TMC5_ENST00000561503.1_Silent_p.R614R|TMC5_ENST00000542583.2_Silent_p.R973R|TMC5_ENST00000541464.1_Silent_p.R921R|TMC5_ENST00000219821.5_Silent_p.R727R	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	973						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTCTGGAAAGGAGAGAGGTGG	0.498000													17	51					0	0	0.004990	0	0
PRSS22	64063	broad.mit.edu	37	16	2903113	2903113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2903113C>T	ENST00000161006.3	-	6	1000	c.935G>A	c.(934-936)gGg>gAg	p.G312E	PRSS22_ENST00000571228.1_Missense_Mutation_p.G202E	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	312					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CGCGGCGGCCCCAGAGCCCTG	0.731000													4	6					0	0	0.000602	0	0
TNXB	7148	broad.mit.edu	37	6	32053812	32053812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32053812G>A	ENST00000375244.3	-	7	3064	c.2863C>T	c.(2863-2865)Ctc>Ttc	p.L955F	TNXB_ENST00000375247.2_Missense_Mutation_p.L955F			P22105	TENX_HUMAN	tenascin XB	1042	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCTGCAGGAGAGGAGCCTGG	0.682000													85	144					0	0	0.003610	0	0
NLRP1	22861	broad.mit.edu	37	17	5425029	5425029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:5425029C>T	ENST00000345221.3	-	13	4152	c.3598G>A	c.(3598-3600)Gtg>Atg	p.V1200M	NLRP1_ENST00000577119.1_Missense_Mutation_p.V1170M|NLRP1_ENST00000269280.4_Missense_Mutation_p.V1200M|NLRP1_ENST00000572272.1_Missense_Mutation_p.V1200M|NLRP1_ENST00000354411.3_Missense_Mutation_p.V1170M|NLRP1_ENST00000262467.5_Missense_Mutation_p.V1204M	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1200					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGCAGCTCCACCCTGGCTGGC	0.532000													31	28					0	0	0.002096	0	0
COL4A4	1286	broad.mit.edu	37	2	227942760	227942760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:227942760C>T	ENST00000396625.3	-	25	2044	c.1837G>A	c.(1837-1839)Gga>Aga	p.G613R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G613R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	613	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGGAAATCCTTTACCACCT	0.557000													5	39					0	0	0.000602	0	0
DLEC1	9940	broad.mit.edu	37	3	38141857	38141857	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:38141857C>T	ENST00000308059.6	+	19	2826	c.2805C>T	c.(2803-2805)gcC>gcT	p.A935A	DLEC1_ENST00000346219.3_Silent_p.A935A|DLEC1_ENST00000452631.2_Silent_p.A935A			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	935					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCTTGGAGGCCCTGCACTGCC	0.592000													39	72					0	0	0.006230	0	0
CHCHD4	131474	broad.mit.edu	37	3	14154485	14154485	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:14154485C>A	ENST00000295767.5	-	4	694	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	CHCHD4_ENST00000396914.3_Missense_Mutation_p.D111Y	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	111					protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						tcttcctcatcctcatcctct	0.507000													9	13					5.68852e-11	6.33398e-11	0.004482	1	0
SERPINB11	89778	broad.mit.edu	37	18	61377546	61377546	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61377546G>A	ENST00000544088.1	+	0	181				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TATGCTCTAAGCATGGTCCTC	0.443000													17	32					0	0	0.007413	0	0
CPNE4	131034	broad.mit.edu	37	3	131418796	131418796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:131418796G>A	ENST00000512055.1	-	8	2515	c.389C>T	c.(388-390)tCc>tTc	p.S130F	CPNE4_ENST00000429747.1_Missense_Mutation_p.S130F|CPNE4_ENST00000512332.1_Missense_Mutation_p.S148F|CPNE4_ENST00000502818.1_Missense_Mutation_p.S148F|CPNE4_ENST00000511604.1_Missense_Mutation_p.S130F			Q96A23	CPNE4_HUMAN	copine IV	130	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTTCAGCAAGGATTTGGACAG	0.448000													10	12					0	0	0.008291	0	0
ZNF609	23060	broad.mit.edu	37	15	64967617	64967617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:64967617G>A	ENST00000326648.3	+	4	2692	c.2564G>A	c.(2563-2565)gGg>gAg	p.G855E		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	855						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGAGGATGGGGAGGGCAAG	0.512000													39	53					0	0	0.006230	0	0
PKP4	8502	broad.mit.edu	37	2	159488315	159488315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:159488315C>T	ENST00000389757.3	+	8	1329	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	PKP4_ENST00000389759.3_Missense_Mutation_p.R402C	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	402					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCAAGACCTTCGTTCTGCCGT	0.493000										HNSCC(62;0.18)			31	106					0	0	0.002445	0	0
KCTD7	154881	broad.mit.edu	37	7	66270292	66270292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:66270292C>T	ENST00000380828.2	+	10	1260	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	RABGEF1_ENST00000284957.5_Missense_Mutation_p.P329L|KCTD7_ENST00000451741.2_Missense_Mutation_p.P329L|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P343L|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Missense_Mutation_p.P329L|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P342L|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P329L			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GGCAACCCCCCACGCCTTCAG	0.498000													31	55					0	0	0.003271	0	0
KANK2	25959	broad.mit.edu	37	19	11304039	11304039	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11304039G>A	ENST00000432929.2	-	4	1077	c.717C>T	c.(715-717)ccC>ccT	p.P239P	KANK2_ENST00000589359.1_Silent_p.P239P|KANK2_ENST00000589894.1_Silent_p.P239P|KANK2_ENST00000586659.1_Silent_p.P239P|KANK2_ENST00000355150.5_Silent_p.P239P	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	239										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCCCGCTGTGGGGTGGCCCA	0.642000													11	14					0	0	0.000978	0	0
HTR2C	3358	broad.mit.edu	37	X	114141243	114141243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:114141243C>T	ENST00000371950.3	+	6	1271	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	HTR2C_ENST00000276198.1_Silent_p.F214F|HTR2C_ENST00000371951.1_Silent_p.F214F	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCCAAATTTCGTTCTTATTG	0.468000													115	51					0	0	0.003610	0	0
BRWD1	54014	broad.mit.edu	37	21	40590178	40590178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:40590178C>T	ENST00000342449.3	-	31	3637	c.3559G>A	c.(3559-3561)Ggc>Agc	p.G1187S	BRWD1_ENST00000380800.3_Missense_Mutation_p.G1187S|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000333229.2_Missense_Mutation_p.G1187S	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1187	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCAACAGGGCCTGCAAAAGCT	0.378000													19	10					0	0	0.001523	0	0
KIF3B	9371	broad.mit.edu	37	20	30898063	30898063	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:30898063C>T	ENST00000375712.3	+	2	650	c.483C>T	c.(481-483)acC>acT	p.T161T		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	161	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGGATCAGACCAAAAGGCTTG	0.473000													25	53					0	0	0.003330	0	0
PROKR2	128674	broad.mit.edu	37	20	5282926	5282926	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:5282926G>A	ENST00000546004.1	-	3	1161	c.915C>T	c.(913-915)ttC>ttT	p.F305F	PROKR2_ENST00000217270.3_Silent_p.F305F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	305						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTTCCTTCACGAACACAGTGG	0.537000										HNSCC(71;0.22)			24	53					0	0	0.002299	0	0
OR51E1	143503	broad.mit.edu	37	11	4674057	4674057	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:4674057C>T	ENST00000396952.5	+	2	951	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATGCTTGTCTGCTACAGAT	0.507000													22	38					0	0	0.001882	0	0
NRG1	3084	broad.mit.edu	37	8	32621281	32621281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:32621281G>A	ENST00000338921.4	+	13	1825	c.1308G>A	c.(1306-1308)atG>atA	p.M436I	NRG1_ENST00000539990.1_Missense_Mutation_p.M271I|NRG1_ENST00000287842.3_Missense_Mutation_p.M425I|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000405005.2_Missense_Mutation_p.M428I|NRG1_ENST00000519301.1_Missense_Mutation_p.M378I|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.M433I|NRG1_ENST00000287845.5_Missense_Mutation_p.M399I|NRG1_ENST00000287840.5_Missense_Mutation_p.M428I			Q02297	NRG1_HUMAN	neuregulin 1	428					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGTCAGCCATGACCACCCCGG	0.542000													32	52					0	0	0.004289	0	0
SDF2L1	23753	broad.mit.edu	37	22	21998284	21998284	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:21998284C>T	ENST00000248958.4	+	3	562	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	162	MIR 3.			F -> L (in Ref. 1; BAB18277).		endoplasmic reticulum lumen|membrane				prostate(1)	1	Colorectal(54;0.105)					CTGTGCGCTTCCAGCATGTGG	0.627000											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	23					0	0	0.003080	0	0
PCGF2	7703	broad.mit.edu	37	17	36896592	36896592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:36896592C>T	ENST00000580830.1	-	4	765	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	PCGF2_ENST00000581345.1_Missense_Mutation_p.G22R|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000585100.1_Missense_Mutation_p.G22R|PCGF2_ENST00000579882.1_Missense_Mutation_p.G22R|PCGF2_ENST00000360797.2_Missense_Mutation_p.G22R			P35227	PCGF2_HUMAN	polycomb group ring finger 2	22					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					AAGTACCCCCCGCAGAGGGCA	0.622000													33	88					0	0	0.005524	0	0
OLFML3	56944	broad.mit.edu	37	1	114523737	114523737	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:114523737C>T	ENST00000369551.1	+	4	795	c.507C>T	c.(505-507)ttC>ttT	p.F169F	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Silent_p.F169F|OLFML3_ENST00000320334.4_Silent_p.F189F			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	189	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCGTGACTTCACCCTTGCCA	0.547000													20	32					0	0	0.007413	0	0
FAM47C	442444	broad.mit.edu	37	X	37027798	37027798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:37027798C>T	ENST00000358047.3	+	1	1367	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	439										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCATCTCCGCCCGGAACC	0.612000													36	13					0	0	0.003755	0	0
GPATCH1	55094	broad.mit.edu	37	19	33617589	33617589	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:33617589C>T	ENST00000170564.2	+	19	3029	c.2715C>T	c.(2713-2715)agC>agT	p.S905S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	905						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GCAGCGACAGCCAGAGTGACG	0.488000											OREG0025410	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	59					0	0	0.001882	0	0
OBSCN	84033	broad.mit.edu	37	1	228399560	228399560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:228399560G>A	ENST00000570156.2	+	2	150	c.76G>A	c.(76-78)Gac>Aac	p.D26N	OBSCN_ENST00000422127.1_Missense_Mutation_p.D26N|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.D26N|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	26	Ig-like 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTGGGCAAGGACGCCACCCT	0.697000													8	16					0	0	0.006214	0	0
CPM	1368	broad.mit.edu	37	12	69279631	69279631	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:69279631T>C	ENST00000551568.1	-	3	259	c.199A>G	c.(199-201)Aag>Gag	p.K67E	CPM_ENST00000546373.1_Missense_Mutation_p.K67E|CPM_ENST00000338356.3_Missense_Mutation_p.K67E	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	67					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CTGTGTTCCTTTGGAAACCGC	0.403000													52	89					0	0	0.003610	0	0
HHATL	57467	broad.mit.edu	37	3	42738519	42738519	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:42738519G>A	ENST00000441594.1	-	8	1245	c.984C>T	c.(982-984)atC>atT	p.I328I	HHATL_ENST00000310417.5_Silent_p.I328I	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	328					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AGAGTGCGGTGATGCACTTGG	0.627000													16	34					0	0	0.007413	0	0
CDK3	1018	broad.mit.edu	37	17	73998186	73998186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:73998186C>T	ENST00000425876.2	+	3	366	c.278C>T	c.(277-279)tCc>tTc	p.S93F	CDK3_ENST00000448471.1_Missense_Mutation_p.S93F|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	93	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						TACATGGACTCCACCCCAGGC	0.587000													19	56					0	0	0.008871	0	0
ACOX1	51	broad.mit.edu	37	17	73947504	73947504	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:73947504G>A	ENST00000537812.1	-	8	1633	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	ACOX1_ENST00000301608.4_Silent_p.L367L|ACOX1_ENST00000293217.5_Silent_p.L367L	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	367					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						ACCTCAGGCAGTTCACTCAGG	0.498000													33	69					0	0	0.002445	0	0
CCDC89	220388	broad.mit.edu	37	11	85396406	85396406	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:85396406G>A	ENST00000316398.3	-	1	914	c.768C>T	c.(766-768)agC>agT	p.S256S		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	256						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCTGGCTCAGGCTGCTGTGTG	0.577000													24	12					0	0	0.002299	0	0
MYOCD	93649	broad.mit.edu	37	17	12661460	12661460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:12661460C>T	ENST00000425538.1	+	12	2461	c.2261C>T	c.(2260-2262)aCt>aTt	p.T754I	MYOCD_ENST00000343344.4_Missense_Mutation_p.T706I|MYOCD_ENST00000395988.1_Missense_Mutation_p.T658I	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	706					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCATCCCCAACTTTTTCTAAG	0.403000													27	23					0	0	0.004656	0	0
CFI	3426	broad.mit.edu	37	4	110662218	110662218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:110662218G>A	ENST00000394634.2	-	13	1790	c.1583C>T	c.(1582-1584)cCc>cTc	p.P528L	CFI_ENST00000394635.3_Missense_Mutation_p.P536L|CFI_ENST00000512148.1_Missense_Mutation_p.P521L	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	528	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		ACAGACTAAGGGGCCTCCAGA	0.438000													106	162					0	0	0.003610	0	0
MKL1	57591	broad.mit.edu	37	22	40816972	40816972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:40816972G>A	ENST00000396617.3	-	10	1350	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	MKL1_ENST00000402042.1_Missense_Mutation_p.P204S|MKL1_ENST00000355630.3_Missense_Mutation_p.P254S|MKL1_ENST00000407029.1_Missense_Mutation_p.P254S			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	254	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GAGTCCATGGGGGGTGCCCCC	0.597000			T	RBM15	acute megakaryocytic leukemia								16	44					0	0	0.004990	0	0
TRPC3	7222	broad.mit.edu	37	4	122835987	122835987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:122835987G>A	ENST00000264811.5	-	3	1488	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000379645.3_Missense_Mutation_p.A430V	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	345					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGGCCCAGGGCCACGACCAG	0.542000													22	34					0	0	0.001882	0	0
SEMA3B	7869	broad.mit.edu	37	3	50313183	50313183	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:50313183G>A	ENST00000418948.1	+	0	1987							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGGCGTGGAGGGCAGCAGCGC	0.652000													10	24					0	0	0.008291	0	0
USP26	83844	broad.mit.edu	37	X	132161263	132161263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:132161263G>A	ENST00000511190.1	-	6	1455	c.986C>T	c.(985-987)cCa>cTa	p.P329L	USP26_ENST00000370832.1_Missense_Mutation_p.P329L|USP26_ENST00000406273.1_Missense_Mutation_p.P329L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	329					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTTACCCCATGGGAAACTCTG	0.388000													24	13					0	0	0.002780	0	0
SEL1L3	23231	broad.mit.edu	37	4	25803907	25803907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:25803907G>A	ENST00000399878.3	-	11	2076	c.1954C>T	c.(1954-1956)Cag>Tag	p.Q652*	SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.Q499*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.Q617*	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	652						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCTCATACCTGATCTCCTTGC	0.498000													16	31					0	0	0.004007	0	0
OR11L1	391189	broad.mit.edu	37	1	248004409	248004409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248004409G>A	ENST00000355784.2	-	1	845	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACAGGTGGGGACTGGGACAC	0.498000													25	48					0	0	0.003954	0	0
LARS	51520	broad.mit.edu	37	5	145524223	145524223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:145524223G>A	ENST00000394434.2	-	16	1719	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L	LARS_ENST00000545646.1_Missense_Mutation_p.S472L|LARS_ENST00000510191.1_Missense_Mutation_p.S464L|LARS_ENST00000274562.9_Missense_Mutation_p.S491L	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	518					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCATCTGACGACCTGGACAT	0.373000													22	35					0	0	0.003954	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80239088	80239088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:80239088G>A	ENST00000450142.2	-	3	747	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R161W|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R161W|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R74W|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R161W	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	161						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TTACCTTGCCGATTAACTTCA	0.373000													14	15					0	0	0.001855	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577052	158577052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158577052C>T	ENST00000361284.1	+	1	824	c.824C>T	c.(823-825)gCc>gTc	p.A275V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CAGCTTATTGCCATGACCTAT	0.473000													104	197					0	0	0.003610	0	0
BCAR3	8412	broad.mit.edu	37	1	94041571	94041571	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:94041571C>T	ENST00000370244.1	-	10	2090	c.1802_splice	c.e10+1	p.R601_splice	BCAR3_ENST00000370247.3_Splice_Site_p.R510_splice|BCAR3_ENST00000260502.6_Splice_Site_p.R601_splice|BCAR3_ENST00000539242.1_Splice_Site_p.R277_splice|BCAR3_ENST00000370243.1_Splice_Site_p.R601_splice	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	601	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CACTGCTCACCTTTCAATTAT	0.572000													30	34					0	0	0.006320	0	0
C1S	716	broad.mit.edu	37	12	7172504	7172504	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:7172504C>T	ENST00000406697.1	+	9	1246	c.618C>T	c.(616-618)atC>atT	p.I206I	C1S_ENST00000360817.5_Silent_p.I206I|C1S_ENST00000402681.3_Silent_p.I39I|C1S_ENST00000328916.3_Silent_p.I206I			P09871	C1S_HUMAN	complement component 1, s subcomponent	206	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AATACCAGATCCGGTTGGAGA	0.473000													72	104					0	0	0.003610	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152710	66152710	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:66152710G>A	ENST00000489520.2	-	0	233					NR_026825.2																						CACCTAATTGGATTCCCACTG	0.433000													4	6					0	0	0.000248	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181355	19181355	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:19181355C>T	ENST00000375371.3	-	3	630	c.609G>A	c.(607-609)tgG>tgA	p.W203*	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	203					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGATCCAGTTCCAGCGGAAGT	0.642000													12	10					0	0	0.000978	0	0
AKAP9	10142	broad.mit.edu	37	7	91708885	91708885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:91708885C>T	ENST00000359028.2	+	32	7699	c.7474C>T	c.(7474-7476)Cag>Tag	p.Q2492*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.Q2492*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.Q2480*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2492	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTAGAAAATCAGACATACTT	0.373000			T	BRAF	papillary thyroid								19	39					0	0	0.006122	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1978940	1978940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:1978940G>A	ENST00000255641.8	+	6	1025	c.530G>A	c.(529-531)gGg>gAg	p.G177E		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	177	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		GGCCGCCCGGGGACCAAGCGG	0.627000													21	38					0	0	0.002780	0	0
ARF6	382	broad.mit.edu	37	14	50360697	50360697	+	Silent	SNP	C	C	T	rs141035771		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:50360697C>T	ENST00000298316.5	+	2	790	c.243C>T	c.(241-243)acC>acT	p.T81T		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	81					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					ACACTGGGACCCAAGGTCTCA	0.582000													21	23					0	0	0.002780	0	0
TRIM9	114088	broad.mit.edu	37	14	51448794	51448794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:51448794G>A	ENST00000298355.3	-	8	2752	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	TRIM9_ENST00000338969.5_Missense_Mutation_p.S625L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	544	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CGAGTGCGCCGAGCCAGGGTC	0.537000													15	31					0	0	0.004007	0	0
POP1	10940	broad.mit.edu	37	8	99142337	99142337	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:99142337C>T	ENST00000401707.2	+	5	699	c.618C>T	c.(616-618)atC>atT	p.I206I	POP1_ENST00000349693.3_Silent_p.I206I	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	206					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAACTCACATCTGGCACGCCA	0.463000													14	38					0	0	0.002450	0	0
TANC1	85461	broad.mit.edu	37	2	160087161	160087161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:160087161C>T	ENST00000263635.6	+	27	5461	c.5224C>T	c.(5224-5226)Cgc>Tgc	p.R1742C	TANC1_ENST00000454300.1_Missense_Mutation_p.R1636C	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1742						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCTCCAAGCCGCAGCTGGCA	0.582000													30	75					0	0	0.002445	0	0
TENM1	10178	broad.mit.edu	37	X	124097411	124097411	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:124097411C>T	ENST00000422452.2	-	1	255	c.192G>A	c.(190-192)agG>agA	p.R64R	TENM1_ENST00000371130.3_Silent_p.R64R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTACTTCTTTCCTCTTTCTAC	0.358000													97	50					0	0	0.003610	0	0
HPSE2	60495	broad.mit.edu	37	10	100249933	100249933	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:100249933G>A	ENST00000370552.3	-	10	1400	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	HPSE2_ENST00000370546.1_Silent_p.L447L|HPSE2_ENST00000370549.1_Silent_p.L389L|HPSE2_ENST00000404542.1_Silent_p.L335L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	447					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCGCTTGTAGAGGAGAGAGA	0.557000													36	42					0	0	0.003755	0	0
PDE6C	5146	broad.mit.edu	37	10	95372708	95372708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:95372708C>T	ENST00000371447.3	+	1	364	c.226C>T	c.(226-228)Cca>Tca	p.P76S		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	76	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GGGGGGCACCCCAGAGCAGGG	0.662000													6	33					0	0	0.001984	0	0
ACAP3	116983	broad.mit.edu	37	1	1235944	1235944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:1235944G>A	ENST00000354700.5	-	6	669	c.467C>T	c.(466-468)gCc>gTc	p.A156V	ACAP3_ENST00000353662.3_Missense_Mutation_p.A114V	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	156					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GAGGGTGAGGGCCCCGGTGGC	0.672000													19	33					0	0	0.008871	0	0
OR5B2	390190	broad.mit.edu	37	11	58190091	58190091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:58190091G>A	ENST00000302581.2	-	1	695	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACAAGTAGGAGATAAAGAT	0.403000													14	18					0	0	0.002450	0	0
DIDO1	11083	broad.mit.edu	37	20	61525205	61525205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:61525205G>A	ENST00000266070.4	-	12	3239	c.2914C>T	c.(2914-2916)Cca>Tca	p.P972S	DIDO1_ENST00000395340.1_Missense_Mutation_p.P972S|DIDO1_ENST00000395335.2_Missense_Mutation_p.P972S|DIDO1_ENST00000395343.1_Missense_Mutation_p.P972S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	972					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAACTGCTTGGAGCGGTCCTG	0.672000													34	75					0	0	0.004289	0	0
GALNTL5	168391	broad.mit.edu	37	7	151711745	151711745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:151711745G>A	ENST00000392800.2	+	8	1297	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	GALNTL5_ENST00000431418.2_Missense_Mutation_p.G348D	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	348	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATGTGTGGAGGCCAACTCTTT	0.388000													24	56					0	0	0.004656	0	0
HLA-A	3105	broad.mit.edu	37	6	29912088	29912088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:29912088C>T	ENST00000396634.1	+	6	1150	c.809C>T	c.(808-810)gCt>gTt	p.A270V	HLA-A_ENST00000376802.2_Missense_Mutation_p.A270V|HLA-A_ENST00000376806.5_Missense_Mutation_p.A270V|HLA-A_ENST00000376809.5_Missense_Mutation_p.A270V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	270	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AAGTGGGCGGCTGTGGTGGTG	0.622000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			15	22					0	0	0.003330	0	0
INSL6	11172	broad.mit.edu	37	9	5164204	5164204	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:5164204C>T	ENST00000381641.3	-	2	416	c.351G>A	c.(349-351)aaG>aaA	p.K117K	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	117						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CCTTTTTATCCTTATACTCAG	0.333000													26	30					0	0	0.002445	0	0
TRAF6	7189	broad.mit.edu	37	11	36514136	36514136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:36514136G>A	ENST00000526995.1	-	6	967	c.721C>T	c.(721-723)Cca>Tca	p.P241S	TRAF6_ENST00000348124.5_Missense_Mutation_p.P241S|TRAF6_ENST00000529150.1_5'UTR	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	241	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				AATGTGCATGGAATTGGGGCT	0.323000													19	99					0	0	0.001523	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29437927	29437927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29437927G>A	ENST00000283351.4	-	20	3099	c.2764C>T	c.(2764-2766)Cct>Tct	p.P922S	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P868S	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	922					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.P922S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCCCTGTAGGAAAATGTATA	0.333000													53	71					0	0	0.003610	0	0
FMO3	2328	broad.mit.edu	37	1	171079999	171079999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:171079999C>T	ENST00000367755.4	+	6	799	c.688C>T	c.(688-690)Cct>Tct	p.P230S	FMO3_ENST00000538429.1_Missense_Mutation_p.P167S|FMO3_ENST00000542847.1_Missense_Mutation_p.P210S|FMO3_ENST00000392085.2_Missense_Mutation_p.P230S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	230					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAATGGTTATCCTTGGGACAT	0.463000													66	95					0	0	0.003610	0	0
RXFP4	339403	broad.mit.edu	37	1	155911999	155911999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:155911999G>A	ENST00000368318.3	+	1	520	c.499G>A	c.(499-501)Gcg>Acg	p.A167T		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	167						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCAGTGTGGGCGGCGGCTGC	0.672000													41	44					0	0	0.002222	0	0
POLE	5426	broad.mit.edu	37	12	133236096	133236096	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:133236096C>T	ENST00000320574.5	-	26	3104		c.e26-1		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGTTGGCTGCCTAGAGAAAGA	0.527000								DNA polymerases (catalytic subunits)					24	34					0	0	0.002780	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229665	140229665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140229665G>A	ENST00000378122.3	+	1	2309	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K	PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E529K|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGAGCTGGAGCTGCTACA	0.677000													56	84					0	0	0.003610	0	0
PIK3CD	5293	broad.mit.edu	37	1	9780172	9780172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:9780172G>A	ENST00000536656.1	+	11	1445	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	PIK3CD_ENST00000361110.2_Missense_Mutation_p.E413K|PIK3CD_ENST00000377346.4_Missense_Mutation_p.E448K|PIK3CD_ENST00000543390.1_Missense_Mutation_p.E115K			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	448					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GTGTTCAGATGAGAAGGGCGA	0.652000													34	58					0	0	0.005524	0	0
HSD17B14	51171	broad.mit.edu	37	19	49337584	49337584	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:49337584G>A	ENST00000263278.4	-	3	425	c.159C>T	c.(157-159)ctC>ctT	p.L53L	HSD17B14_ENST00000599157.1_Silent_p.L53L	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	53					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CAGCTCCAGGGAGCTCCTGCT	0.592000													37	72					0	0	0.003755	0	0
ANKRD22	118932	broad.mit.edu	37	10	90582746	90582746	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:90582746C>T	ENST00000371930.4	-	6	738	c.528G>A	c.(526-528)cgG>cgA	p.R176R	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	176										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		ATTTTAATCTCCGTGCAATAT	0.403000													48	56					0	0	0.003610	0	0
SNRPN	6638	broad.mit.edu	37	15	25222117	25222117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:25222117C>T	ENST00000444203.2	+	5	1412	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	SNRPN_ENST00000346403.6_Missense_Mutation_p.P121S|SNRPN_ENST00000400097.1_Missense_Mutation_p.P121S|SNRPN_ENST00000390687.4_Missense_Mutation_p.P121S|SNRPN_ENST00000400098.1_Missense_Mutation_p.P121S|SNRPN_ENST00000577565.1_Missense_Mutation_p.P121S|SNRPN_ENST00000400100.1_Missense_Mutation_p.P121S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.P125S			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	121					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TGTGCCAATTCCCCAGGCCCC	0.582000									Prader-Willi syndrome				34	51					0	0	0.002836	0	0
C1RL	51279	broad.mit.edu	37	12	7260858	7260858	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:7260858C>A	ENST00000266542.4	-	2	381	c.289G>T	c.(289-291)Gac>Tac	p.D97Y	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Missense_Mutation_p.D97Y|C1RL_ENST00000544702.1_Missense_Mutation_p.D97Y|C1RL-AS1_ENST00000435921.2_RNA	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	97	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTGACAGAGTCCCCTGCACAG	0.642000													18	25					1.56452e-12	1.74309e-12	0.007413	1	0
TSSC1	7260	broad.mit.edu	37	2	3197850	3197850	+	Silent	SNP	G	G	A	rs148363289	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:3197850G>A	ENST00000398659.4	-	8	962	c.822C>T	c.(820-822)tgC>tgT	p.C274C	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Silent_p.C247C			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	247							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		AGTCGTCTCCGCAGCTGGCCA	0.572000													51	44					0	0	0.003610	0	0
KIAA1328	57536	broad.mit.edu	37	18	34753043	34753043	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:34753043C>T	ENST00000591619.1	+	9	2296	c.1511_splice	c.e9+1	p.R504_splice	KIAA1328_ENST00000435985.2_Splice_Site_p.R260_splice|KIAA1328_ENST00000280020.5_Splice_Site_p.R508_splice|KIAA1328_ENST00000543923.1_Splice_Site_p.R400_splice|KIAA1328_ENST00000586135.1_Splice_Site_p.R260_splice			Q86T90	K1328_HUMAN	KIAA1328	508										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CACCACCTCCCGGTAAGCTTC	0.393000													41	52					0	0	0.007835	0	0
FAM160B1	57700	broad.mit.edu	37	10	116620595	116620595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:116620595C>T	ENST00000369248.4	+	15	2370	c.2035C>T	c.(2035-2037)Cct>Tct	p.P679S	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P679S	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	679										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCTTTTGGATCCTTACGTGAA	0.418000													30	125					0	0	0.002445	0	0
CHD6	84181	broad.mit.edu	37	20	40113090	40113090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:40113090G>A	ENST00000373233.3	-	15	2336	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	720					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGTCAGGAAGGAAAAGTTCTT	0.473000													51	94					0	0	0.003610	0	0
TBX22	50945	broad.mit.edu	37	X	79281235	79281235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:79281235C>T	ENST00000442340.1	+	5	722	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	TBX22_ENST00000373294.5_Missense_Mutation_p.R198C|TBX22_ENST00000373296.3_Missense_Mutation_p.R198C|TBX22_ENST00000373291.1_Missense_Mutation_p.R78C	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	198					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGCTTTGATCGCATGAAACT	0.527000													5	10					0	0	0.000602	0	0
NLRP10	338322	broad.mit.edu	37	11	7981739	7981739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7981739G>A	ENST00000328600.2	-	2	1581	c.1420C>T	c.(1420-1422)Cat>Tat	p.H474Y		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	474	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACATGGCATGAAAAAAGTCC	0.532000													50	72					0	0	0.003610	0	0
TACC2	10579	broad.mit.edu	37	10	124008235	124008235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124008235G>A	ENST00000369005.1	+	20	8810	c.8470G>A	c.(8470-8472)Gac>Aac	p.D2824N	TACC2_ENST00000513429.1_Missense_Mutation_p.D970N|TACC2_ENST00000334433.3_Missense_Mutation_p.D2824N|TACC2_ENST00000515603.1_Missense_Mutation_p.D2702N|TACC2_ENST00000453444.2_Missense_Mutation_p.D2751N|TACC2_ENST00000369000.1_Missense_Mutation_p.D447N|TACC2_ENST00000260733.3_Missense_Mutation_p.D902N|TACC2_ENST00000358010.1_Missense_Mutation_p.D970N|TACC2_ENST00000515273.1_Missense_Mutation_p.D2751N|TACC2_ENST00000369004.3_Missense_Mutation_p.D884N|TACC2_ENST00000360561.3_Missense_Mutation_p.D872N|TACC2_ENST00000368999.1_Missense_Mutation_p.D914N|TACC2_ENST00000369001.1_Missense_Mutation_p.D451N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2824						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCCCTGGCCGACCTGAACTC	0.572000													64	75					0	0	0.003610	0	0
CDH6	1004	broad.mit.edu	37	5	31323218	31323218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:31323218G>A	ENST00000265071.2	+	12	2441	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	726					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAATGACACGGACCCCACTGC	0.567000													15	30					0	0	0.004007	0	0
TTC40	54777	broad.mit.edu	37	10	134754509	134754509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:134754509C>T	ENST00000368586.5	-	4	462	c.362G>A	c.(361-363)gGa>gAa	p.G121E	TTC40_ENST00000368585.3_Missense_Mutation_p.G121E|TTC40_ENST00000368582.2_Missense_Mutation_p.G121E	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCTCGGTTCTCCTTTGGCAAA	0.428000											OREG0020643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	23					0	0	0.008871	0	0
LAMA2	3908	broad.mit.edu	37	6	129637235	129637235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:129637235G>A	ENST00000421865.2	+	27	4026	c.3977G>A	c.(3976-3978)cGa>cAa	p.R1326Q		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1326	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1326Q(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTGTGACCCGAGAAGACTTC	0.338000													36	43					0	0	0.004878	0	0
CNGA3	1261	broad.mit.edu	37	2	99012514	99012514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:99012514G>A	ENST00000393504.1	+	8	1298	c.881G>A	c.(880-882)aGg>aAg	p.R294K	CNGA3_ENST00000436404.2_Missense_Mutation_p.R276K|CNGA3_ENST00000409937.1_Missense_Mutation_p.R298K|CNGA3_ENST00000272602.2_Missense_Mutation_p.R294K	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	294					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACAGAGACAAGGACCAACTAC	0.463000													16	29					0	0	0.003163	0	0
FLT4	2324	broad.mit.edu	37	5	180043463	180043463	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:180043463C>T	ENST00000261937.6	-	23	3201	c.3123G>A	c.(3121-3123)cgG>cgA	p.R1041R	FLT4_ENST00000502649.1_Silent_p.R1041R|FLT4_ENST00000393347.3_Silent_p.R1041R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1041	Protein kinase.		R -> P (in LMPH1A; loss of kinase activity).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGAATGTTCCGAGCAGCCA	0.617000													18	22					0	0	0.001882	0	0
IL16	3603	broad.mit.edu	37	15	81578073	81578073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:81578073C>T	ENST00000394660.2	+	10	1594	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	IL16_ENST00000302987.4_Missense_Mutation_p.P412S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	412	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGTGATTCCCCTGTGCACTG	0.502000													37	56					0	0	0.004878	0	0
USP9Y	8287	broad.mit.edu	37	Y	14954236	14954236	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrY:14954236T>A	ENST00000338981.3	+	38	7228	c.6283T>A	c.(6283-6285)Ttt>Att	p.F2095I	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2095					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TAATGTCCTTTTTAATGTATC	0.383000													39	18					0	0	0.008740	0	0
DSG2	1829	broad.mit.edu	37	18	29122529	29122529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29122529G>A	ENST00000261590.8	+	14	2257	c.2048G>A	c.(2047-2049)gGa>gAa	p.G683E	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	683					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGTCTAGTAGGAAGAAATGGA	0.507000													27	47					0	0	0.004656	0	0
CCND2	894	broad.mit.edu	37	12	4409108	4409108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:4409108G>A	ENST00000261254.3	+	5	1072	c.803G>A	c.(802-804)gGa>gAa	p.G268E		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	268			G -> R (in dbSNP:rs3217921).		cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CAACGTGACGGATCCAAGTCG	0.562000			T	IGL@	"""NHL,CLL"""								14	30					0	0	0.002450	0	0
FNIP2	57600	broad.mit.edu	37	4	159782870	159782870	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:159782870C>T	ENST00000264433.6	+	12	1482	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S	FNIP2_ENST00000379346.3_Silent_p.S492S	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	469					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AACGTACCTCCCAGTCAGTGA	0.493000													50	103					0	0	0.003610	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359494	70359494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:70359494C>T	ENST00000305107.6	-	2	833	c.787G>A	c.(787-789)Gat>Aat	p.D263N	UGT2B4_ENST00000381096.3_Missense_Mutation_p.D127N|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.D263N	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	263					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AATTGAAAATCCCAGTAGTTT	0.418000													31	56					0	0	0.007291	0	0
LOC440040	440040	broad.mit.edu	37	11	49598204	49598204	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:49598204C>T	ENST00000527477.1	+	0	808																											TCCTCCTCTTCCTTCTGCTCC	0.512000													11	14					0	0	0.001855	0	0
OR52A5	390054	broad.mit.edu	37	11	5153532	5153532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5153532G>A	ENST00000307388.1	-	1	340	c.341C>T	c.(340-342)tCg>tTg	p.S114L		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGGATACCCGATTCAATTGC	0.443000													14	23					0	0	0.001855	0	0
CCDC150	284992	broad.mit.edu	37	2	197586255	197586255	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:197586255C>T	ENST00000389175.4	+	21	2404	c.2269C>T	c.(2269-2271)Cta>Tta	p.L757L	CCDC150_ENST00000272831.7_Silent_p.L404L|CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000409270.1_Silent_p.L244L	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	757										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GATTGAATCTCTACAAAAAGC	0.388000													4	10					0	0	0.000248	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032005	10032005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:10032005G>A	ENST00000396573.2	-	4	1127	c.818C>T	c.(817-819)cCa>cTa	p.P273L	GRIN2A_ENST00000330684.3_Missense_Mutation_p.P273L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P273L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P273L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P116L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P273L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	273					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAGTCCCGATGGAAACTCTTT	0.557000													23	32					0	0	0.002780	0	0
SLC26A9	115019	broad.mit.edu	37	1	205890864	205890864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:205890864G>A	ENST00000367135.3	-	17	1998	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S	SLC26A9_ENST00000367134.2_Missense_Mutation_p.P629S|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P629S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	629	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAGCTGTCAGGGCTGAAGGTG	0.647000													6	6					0	0	0.001168	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147170	52147170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52147170C>T	ENST00000360844.6	-	5	915	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	292	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGATTGAGGGCTTTTCCCTCC	0.607000													25	46					0	0	0.005443	0	0
ZBTB2	57621	broad.mit.edu	37	6	151686991	151686991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:151686991G>A	ENST00000325144.4	-	3	1350	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CGGGCAGCCTGGTTGGCCCTG	0.507000													24	48					0	0	0.003330	0	0
DOCK6	57572	broad.mit.edu	37	19	11338069	11338069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11338069C>T	ENST00000294618.7	-	24	2910	c.2899G>A	c.(2899-2901)Gac>Aac	p.D967N	DOCK6_ENST00000319867.7_Missense_Mutation_p.D306N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	967					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCAGTGATGTCGTCCAGGAAG	0.622000													9	4					0	0	0.004482	0	0
LAMA5	3911	broad.mit.edu	37	20	60892830	60892830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:60892830C>T	ENST00000252999.3	-	54	7310	c.7244G>A	c.(7243-7245)aGg>aAg	p.R2415K		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2415	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCTGCTTCCTTTGCTGAAG	0.572000													18	26					0	0	0.001523	0	0
PLCB4	5332	broad.mit.edu	37	20	9402010	9402010	+	Silent	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:9402010T>C	ENST00000378501.2	+	23	2200	c.2185T>C	c.(2185-2187)Ttg>Ctg	p.L729L	PLCB4_ENST00000378473.3_Silent_p.L741L|PLCB4_ENST00000334005.3_Silent_p.L729L|PLCB4_ENST00000278655.4_Silent_p.L729L|PLCB4_ENST00000414679.2_Silent_p.L741L|PLCB4_ENST00000378493.1_Silent_p.L729L|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	729	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATGTATGGGTTGCCCACTGA	0.408000													33	41					0	0	0.004878	0	0
DYSF	8291	broad.mit.edu	37	2	71797378	71797378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:71797378C>T	ENST00000258104.3	+	28	3222	c.2945C>T	c.(2944-2946)cCc>cTc	p.P982L	DYSF_ENST00000410020.3_Missense_Mutation_p.P1000L|DYSF_ENST00000409366.1_Missense_Mutation_p.P983L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1013L|DYSF_ENST00000429174.2_Missense_Mutation_p.P982L|DYSF_ENST00000409582.3_Missense_Mutation_p.P999L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1000L|DYSF_ENST00000409762.1_Missense_Mutation_p.P999L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1014L|DYSF_ENST00000409744.1_Missense_Mutation_p.P969L|DYSF_ENST00000394120.2_Missense_Mutation_p.P983L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	982						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AAGGTGCTTCCCAAGGATGAC	0.537000													25	42					0	0	0.006320	0	0
CHRNA6	8973	broad.mit.edu	37	8	42614235	42614235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:42614235C>T	ENST00000276410.2	-	3	596	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	CHRNA6_ENST00000534622.1_Intron|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	81						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAATTGGTTTCCATGATCTGG	0.393000													30	56					0	0	0.004289	0	0
THBS2	7058	broad.mit.edu	37	6	169648776	169648776	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:169648776G>A	ENST00000366787.3	-	4	594	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	115	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.I115I(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTTGGAGACGATCTCGAACT	0.657000													28	73					0	0	0.008361	0	0
PRR19	284338	broad.mit.edu	37	19	42814694	42814694	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:42814694G>A	ENST00000499536.2	+	2	1684	c.873G>A	c.(871-873)ctG>ctA	p.L291L	PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Silent_p.L291L			A6NJB7	PRR19_HUMAN	proline rich 19	291	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GCATCTGGCTGGTAGCCACGC	0.617000													39	70					0	0	0.007835	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904753	73904753	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:73904753G>A	ENST00000342056.2	+	15	2870	c.2472G>A	c.(2470-2472)agG>agA	p.R824R	KCNQ5_ENST00000355635.3_Silent_p.R806R|KCNQ5_ENST00000402622.2_Silent_p.R815R|KCNQ5_ENST00000414165.2_Silent_p.R695R|KCNQ5_ENST00000403813.2_Silent_p.R796R|KCNQ5_ENST00000370398.1_Silent_p.R805R|KCNQ5_ENST00000355194.4_Silent_p.R805R	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	805					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTTCTATGAGGAAAAGCTTTG	0.483000													37	67					0	0	0.008740	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54109721	54109721	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:54109721G>A	ENST00000548263.1	-	9	1164	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	CALCOCO1_ENST00000262059.4_Silent_p.A372A|CALCOCO1_ENST00000430117.2_Silent_p.A287A|CALCOCO1_ENST00000550804.1_Silent_p.A372A			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	372	Poly-Ala.				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TGCGGTCCCTGGCTGCTGCTG	0.597000													19	37					0	0	0.006122	0	0
ZNF594	84622	broad.mit.edu	37	17	5087191	5087191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:5087191G>A	ENST00000399604.4	-	1	501	c.361C>T	c.(361-363)Cat>Tat	p.H121Y	ZNF594_ENST00000575779.1_Missense_Mutation_p.H121Y			Q96JF6	ZN594_HUMAN	zinc finger protein 594	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTATATTATGAATTTTCTGA	0.348000													12	10					0	0	0.001855	0	0
OR2M7	391196	broad.mit.edu	37	1	248487377	248487377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248487377G>A	ENST00000317965.2	-	1	522	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAGGAGAAGGAAAATGTCGC	0.453000													85	142					0	0	0.003610	0	0
MYO7B	4648	broad.mit.edu	37	2	128351213	128351213	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:128351213C>T	ENST00000389524.4	+	18	2291	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	MYO7B_ENST00000428314.1_Silent_p.F746F|MYO7B_ENST00000409816.2_Silent_p.F746F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	746	IQ 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAAAAATTTTCCTGAGGGTGA	0.607000													14	56					0	0	0.003163	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960452	73960452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:73960452G>A	ENST00000373468.1	-	3	4591	c.3940C>T	c.(3940-3942)Cag>Tag	p.Q1314*	KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.Q1314*			Q5QGS0	K2022_HUMAN	KIAA2022	1314					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.Q1314*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAAGGCTCCTGAAATTCCCGT	0.532000													50	18					0	0	0.003610	0	0
FMO3	2328	broad.mit.edu	37	1	171086461	171086461	+	Missense_Mutation	SNP	C	C	T	rs61008738	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:171086461C>T	ENST00000367755.4	+	9	1589	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	FMO3_ENST00000538429.1_Missense_Mutation_p.S430L|FMO3_ENST00000542847.1_Missense_Mutation_p.S473L|FMO3_ENST00000392085.2_Missense_Mutation_p.S493L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	493					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.S493*(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGACCGGTCGTTGAAACCC	0.517000													24	40					0	0	0.002780	0	0
RP1L1	94137	broad.mit.edu	37	8	10470276	10470276	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:10470276C>T	ENST00000382483.3	-	4	1555	c.1332G>A	c.(1330-1332)ggG>ggA	p.G444G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	444					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ATCTCTCCCTCCCGGCAGTCC	0.716000													17	57					0	0	0.007413	0	0
DPPA4	55211	broad.mit.edu	37	3	109047910	109047910	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:109047910C>T	ENST00000335658.6	-	6	759	c.705G>A	c.(703-705)ggG>ggA	p.G235G		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	235						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GGAGACTTTTCCCATGGACCA	0.522000													8	11					0	0	0.006214	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951596	119951596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:119951596G>A	ENST00000307142.4	+	4	1862	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E556K|SYNPO2_ENST00000429713.2_Missense_Mutation_p.E556K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	556						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGCTACATCGAGGTGAGTCA	0.517000													20	54					0	0	0.001882	0	0
OR4N5	390437	broad.mit.edu	37	14	20612732	20612732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:20612732C>T	ENST00000333629.1	+	1	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGTCATCTTTCCTTTGATGAA	0.403000													43	107					0	0	0.002222	0	0
LRIF1	55791	broad.mit.edu	37	1	111492641	111492641	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:111492641A>G	ENST00000369763.4	-	3	2091	c.1701T>C	c.(1699-1701)gaT>gaC	p.D567D	LRIF1_ENST00000494675.1_Silent_p.D31D|LRIF1_ENST00000485275.2_Silent_p.D31D|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TAAATTCAGCATCACTCTTCA	0.378000													22	16					0	0	0.002299	0	0
LRRN1	57633	broad.mit.edu	37	3	3886591	3886591	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:3886591A>G	ENST00000319331.3	+	2	1027	c.266A>G	c.(265-267)gAt>gGt	p.D89G	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	89						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAGACTGTGGATGAGCTGCAG	0.448000													18	27					0	0	0.006122	0	0
KANK2	25959	broad.mit.edu	37	19	11304040	11304040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11304040G>A	ENST00000432929.2	-	4	1076	c.716C>T	c.(715-717)cCc>cTc	p.P239L	KANK2_ENST00000589359.1_Missense_Mutation_p.P239L|KANK2_ENST00000589894.1_Missense_Mutation_p.P239L|KANK2_ENST00000586659.1_Missense_Mutation_p.P239L|KANK2_ENST00000355150.5_Missense_Mutation_p.P239L	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	239										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCCCGCTGTGGGGTGGCCCAG	0.642000													11	14					0	0	0.000978	0	0
SLC7A11	23657	broad.mit.edu	37	4	139100404	139100404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:139100404C>T	ENST00000280612.5	-	11	1690	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	471					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GGTTTCTTGTCCCATATAATA	0.418000													31	50					0	0	0.002836	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750236	140750236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140750236G>A	ENST00000576222.1	+	1	406	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTATAGACCGAGAGGAGATT	0.443000													58	221					0	0	0.003610	0	0
PDE6C	5146	broad.mit.edu	37	10	95372709	95372709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:95372709C>T	ENST00000371447.3	+	1	365	c.227C>T	c.(226-228)cCa>cTa	p.P76L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	76	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GGGGGCACCCCAGAGCAGGGG	0.662000													6	34					0	0	0.001984	0	0
PSG7	5676	broad.mit.edu	37	19	43441217	43441217	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:43441217G>A	ENST00000471557.1	-	0	113				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GAGGGGCTGAGAGGGGCCCCA	0.572000													35	71					0	0	0.002522	0	0
MS4A14	84689	broad.mit.edu	37	11	60183946	60183946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:60183946C>T	ENST00000300187.6	+	5	1782	c.1505C>T	c.(1504-1506)tCt>tTt	p.S502F	MS4A14_ENST00000531783.1_Missense_Mutation_p.S535F|MS4A14_ENST00000531787.1_Missense_Mutation_p.S390F|MS4A14_ENST00000395005.2_Missense_Mutation_p.S485F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	502	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGGAGACATTCTTTAGACGTG	0.433000													18	67					0	0	0.004990	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43750291	43750291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:43750291G>A	ENST00000389420.3	-	38	5638	c.5639C>T	c.(5638-5640)tCa>tTa	p.S1880L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1880	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTTACCTCTGATCTTCGTAT	0.408000													9	11					0	0	0.006214	0	0
IGFN1	91156	broad.mit.edu	37	1	201195228	201195228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:201195228C>T	ENST00000335211.4	+	22	10893	c.10763C>T	c.(10762-10764)cCc>cTc	p.P3588L	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACCAGCCAGCCCTGGTGCATC	0.662000													10	18					0	0	0.001855	0	0
IHH	3549	broad.mit.edu	37	2	219920581	219920581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219920581G>A	ENST00000295731.5	-	3	583	c.584C>T	c.(583-585)tCg>tTg	p.S195L		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	195					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGCGGCCGAGTGCTCTGT	0.667000													8	10					0	0	0.004482	0	0
ZBTB48	3104	broad.mit.edu	37	1	6649219	6649219	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:6649219C>T	ENST00000377674.4	+	11	2172	c.2014C>T	c.(2014-2016)Ctg>Ttg	p.L672L		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	672						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CCCAGGTGTCCTGGAGCCCTC	0.652000													22	59					0	0	0.002299	0	0
RYR2	6262	broad.mit.edu	37	1	237881821	237881821	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:237881821G>A	ENST00000366574.2	+	73	10871	c.10554_splice	c.e73+1	p.K3518_splice	RYR2_ENST00000360064.6_Splice_Site_p.K3516_splice|RYR2_ENST00000542537.1_Splice_Site_p.K3502_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3518					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACAAGGCAAGGTAAGCCAAA	0.294000													18	30					0	0	0.008871	0	0
ACRBP	84519	broad.mit.edu	37	12	6752722	6752722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:6752722G>A	ENST00000229243.2	-	6	1153	c.1060C>T	c.(1060-1062)Ctt>Ttt	p.L354F	ACRBP_ENST00000414226.2_Missense_Mutation_p.L321F|ACRBP_ENST00000542357.1_5'UTR	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	354						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CCGAAACCAAGGATCTCCTCC	0.552000													35	54					0	0	0.004289	0	0
SAMD4A	23034	broad.mit.edu	37	14	55226996	55226996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:55226996C>T	ENST00000251091.5	+	5	1335	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S	SAMD4A_ENST00000555192.1_Missense_Mutation_p.P23S|SAMD4A_ENST00000392067.3_Missense_Mutation_p.P432S|SAMD4A_ENST00000357634.3_Missense_Mutation_p.P431S|SAMD4A_ENST00000554335.1_Missense_Mutation_p.P432S	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	432	SAM.				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CCGCCGGGAGCCCCAGGCCCC	0.716000													24	40					0	0	0.002780	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453235	25453235	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:25453235G>A	ENST00000424208.1	+	0	2384				SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						CGGTTGGGTCGATGATGAGAA	0.532000													39	187					0	0	0.005524	0	0
MANSC1	54682	broad.mit.edu	37	12	12483519	12483519	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:12483519G>A	ENST00000535902.1	-	4	1301	c.738C>T	c.(736-738)acC>acT	p.T246T	MANSC1_ENST00000396349.3_Silent_p.T212T|MANSC1_ENST00000545735.1_Silent_p.T165T			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	246	Thr-rich.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TGGGTAGAAGGGTGGCGGGCT	0.562000													21	57					0	0	0.003330	0	0
LRFN5	145581	broad.mit.edu	37	14	42356771	42356771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:42356771G>A	ENST00000554171.1	+	5	3375	c.943G>A	c.(943-945)Gag>Aag	p.E315K	LRFN5_ENST00000298119.4_Missense_Mutation_p.E315K|LRFN5_ENST00000554120.1_Missense_Mutation_p.E315K			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	315	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGGAGACCCTGAGCCTGCAAT	0.463000										HNSCC(30;0.082)			32	50					0	0	0.002096	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901448	160901448	+	Silent	SNP	G	G	A	rs147284017	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:160901448G>A	ENST00000283243.7	-	2	536	c.330C>T	c.(328-330)ctC>ctT	p.L110L	PLA2R1_ENST00000392771.1_Silent_p.L110L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	110	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTAAGGAAACGAGGGTGGAGT	0.542000													15	51					0	0	0.004007	0	0
MGAM	8972	broad.mit.edu	37	7	141763330	141763330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141763330G>A	ENST00000475668.2	+	36	4343	c.4289G>A	c.(4288-4290)gGg>gAg	p.G1430E	MGAM_ENST00000549489.2_Missense_Mutation_p.G1430E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1430	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCGTGAATGGGGCAGTTTCT	0.498000													6	8					0	0	0.001984	0	0
RFPL1	5988	broad.mit.edu	37	22	29834853	29834853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:29834853C>T	ENST00000354373.2	+	1	282	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	25							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GTGCACTTTTCCCCTGGCAGT	0.488000													34	68					0	0	0.004289	0	0
TNXB	7148	broad.mit.edu	37	6	32047087	32047087	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:32047087G>A	ENST00000375244.3	-	11	4299	c.4098C>T	c.(4096-4098)gcC>gcT	p.A1366A	TNXB_ENST00000375247.2_Silent_p.A1366A			P22105	TENX_HUMAN	tenascin XB	1453	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGACTCCGGGGCCTCCGTGC	0.642000													89	166					0	0	0.003610	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439845	150439845	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:150439845G>A	ENST00000358647.3	+	3	985	c.618G>A	c.(616-618)gtG>gtA	p.V206V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGGCTGTGATTGAGAGGC	0.602000													31	48					0	0	0.008361	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257082	41257082	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:41257082T>G	ENST00000307221.4	-	1	1048	c.917A>C	c.(916-918)aAa>aCa	p.K306T	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	306					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						ACAATTCCTTTTGGTAGACTT	0.343000													29	52					0	0	0.005443	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073189	17073189	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:17073189G>T	ENST00000359963.3	-	1	511	c.252C>A	c.(250-252)caC>caA	p.H84Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	84					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATGCTGCTGGGTGCTCCAGCT	0.622000													19	42					2.94398e-08	3.26341e-08	0.007413	1	0
PGR	5241	broad.mit.edu	37	11	100999743	100999743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:100999743G>A	ENST00000325455.5	-	1	1512	c.59C>T	c.(58-60)tCc>tTc	p.S20F	PGR_ENST00000263463.5_Missense_Mutation_p.S20F|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	20	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GACCTCGGGGGAGGGCGGGCC	0.677000													10	4					0	0	0.006214	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807246	15807246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:15807246G>A	ENST00000550308.1	+	12	1701	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N	CYP4F12_ENST00000324632.9_Missense_Mutation_p.D441N	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCAGGTCTACGACCCCTTCCG	0.547000													48	38					0	0	0.003610	0	0
MFSD1	64747	broad.mit.edu	37	3	158539415	158539415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:158539415C>T	ENST00000415822.2	+	10	1181	c.1040C>T	c.(1039-1041)tCt>tTt	p.S347F	MFSD1_ENST00000392813.4_Missense_Mutation_p.S308F|MFSD1_ENST00000264266.8_Missense_Mutation_p.S298F	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	298					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTGGATTTTCTTCCCAGGCA	0.284000													32	57					0	0	0.006999	0	0
VPS13B	157680	broad.mit.edu	37	8	100847802	100847802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:100847802C>T	ENST00000358544.2	+	54	9964	c.9853C>T	c.(9853-9855)Ccc>Tcc	p.P3285S	VPS13B_ENST00000357162.2_Missense_Mutation_p.P3260S|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3285					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAAAAAATTCCCTCCGAGTG	0.388000													32	59					0	0	0.002836	0	0
SLC17A1	6568	broad.mit.edu	37	6	25826732	25826732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:25826732C>T	ENST00000244527.4	-	3	279	c.164G>A	c.(163-165)gGt>gAt	p.G55D	SLC17A1_ENST00000476801.1_Missense_Mutation_p.G55D|SLC17A1_ENST00000427328.1_Missense_Mutation_p.G55D|SLC17A1_ENST00000468082.1_Missense_Mutation_p.G55D	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	55					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GTTGGGCAAACCATGTGGATC	0.408000													48	90					0	0	0.003610	0	0
GRIA3	2892	broad.mit.edu	37	X	122459933	122459933	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:122459933A>T	ENST00000264357.5	+	4	857	c.565A>T	c.(565-567)Aca>Tca	p.T189S	GRIA3_ENST00000371256.5_Missense_Mutation_p.T189S|GRIA3_ENST00000541091.1_Missense_Mutation_p.T173S|GRIA3_ENST00000542149.1_Missense_Mutation_p.T189S|GRIA3_ENST00000371251.1_Missense_Mutation_p.T189S	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	189					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CTGGCAAGTAACAGCAAGGTC	0.428000													11	15					0	0	0.000978	0	0
CD44	960	broad.mit.edu	37	11	35198190	35198190	+	Missense_Mutation	SNP	C	C	T	rs121909545		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:35198190C>T	ENST00000263398.6	+	2	570	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	CD44_ENST00000449691.2_Missense_Mutation_p.R46W|CD44_ENST00000437706.2_Missense_Mutation_p.R46W|CD44_ENST00000434472.2_Missense_Mutation_p.R46W|CD44_ENST00000433892.2_Missense_Mutation_p.R46W|CD44_ENST00000433354.2_Missense_Mutation_p.R46W|CD44_ENST00000415148.2_Missense_Mutation_p.R46W|CD44_ENST00000360158.4_Missense_Mutation_p.R46W|CD44_ENST00000352818.4_Missense_Mutation_p.R46W|CD44_ENST00000428726.2_Missense_Mutation_p.R46W|CD44_ENST00000278386.6_Missense_Mutation_p.R46W|CD44_ENST00000526669.2_Missense_Mutation_p.R46W|CD44_ENST00000526025.1_Missense_Mutation_p.R46W	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	46	Link.		R -> P (in In(A) antigen).		cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CAGCATCTCTCGGACGGAGGC	0.478000													10	28					0	0	0.006214	0	0
GYS2	2998	broad.mit.edu	37	12	21727101	21727101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:21727101C>T	ENST00000261195.2	-	4	909	c.655G>A	c.(655-657)Gat>Aat	p.D219N		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	219					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGTAGAAATCAATATTTGCT	0.408000													16	36					0	0	0.007413	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228854	57228854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:57228854G>A	ENST00000396721.2	-	2	183	c.53C>T	c.(52-54)tCa>tTa	p.S18L	SDR16C5_ENST00000522671.1_Missense_Mutation_p.S18L|SDR16C5_ENST00000303749.3_Missense_Mutation_p.S18L			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	18					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ACTAAACAGTGATTTTCCTAA	0.418000													18	50					0	0	0.001523	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968742	4968742	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrY:4968742C>T	ENST00000333703.4	+	5	3603	c.3090C>T	c.(3088-3090)acC>acT	p.T1030T	PCDH11Y_ENST00000215473.6_Silent_p.T1041T|PCDH11Y_ENST00000362095.5_Silent_p.T1041T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1041					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCGTACACACCAGACCGGTAG	0.388000													49	9					0	0	0.003610	0	0
FREM2	341640	broad.mit.edu	37	13	39454666	39454666	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:39454666G>A	ENST00000280481.7	+	24	9468	c.9252G>A	c.(9250-9252)aaG>aaA	p.K3084K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3084					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACCGCACCAAGAGGCAGATCC	0.587000													17	38					0	0	0.001523	0	0
UBR5	51366	broad.mit.edu	37	8	103354800	103354800	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:103354800A>G	ENST00000520539.1	-	9	1605	c.999T>C	c.(997-999)ggT>ggC	p.G333G	UBR5_ENST00000220959.4_Silent_p.G333G|UBR5_ENST00000521922.1_Silent_p.G327G	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	333					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTGGTAGAACCCCTTTCAT	0.458000													33	79					0	0	0.002445	0	0
SGSM1	129049	broad.mit.edu	37	22	25272680	25272680	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:25272680G>A	ENST00000400358.4	+	13	1485	c.1428G>A	c.(1426-1428)gaG>gaA	p.E476E	SGSM1_ENST00000400359.4_Silent_p.E531E	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	531						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCAACCATGAGAGGTATGAGG	0.547000													28	50					0	0	0.006320	0	0
ST18	9705	broad.mit.edu	37	8	53071457	53071457	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:53071457C>T	ENST00000276480.7	-	15	2490		c.e15+1			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GACTGGCCTACCTTGGCATGC	0.557000													54	80					0	0	0.003610	0	0
LOC401127	401127	broad.mit.edu	37	4	39482109	39482109	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:39482109C>T	ENST00000513652.1	+	0	235																											AGAGCCATGGCGATGGAGGAG	0.667000													5	9					0	0	0.001168	0	0
GRM3	2913	broad.mit.edu	37	7	86415600	86415600	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:86415600C>T	ENST00000361669.2	+	3	1591	c.492C>T	c.(490-492)ttC>ttT	p.F164F	GRM3_ENST00000439827.1_Silent_p.F164F|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Silent_p.F162F|GRM3_ENST00000536043.1_Silent_p.F36F|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	164					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCGGCTCTTCCAGATCCCTC	0.527000													69	123					0	0	0.003610	0	0
ARPP21	10777	broad.mit.edu	37	3	35781071	35781071	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:35781071T>C	ENST00000187397.4	+	17	2361		c.e17+2		ARPP21_ENST00000458225.1_Splice_Site|ARPP21_ENST00000444190.1_Splice_Site|ARPP21_ENST00000337271.5_Splice_Site|ARPP21_ENST00000417925.1_Splice_Site	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa							cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCTGCACAGGTAGGTGTGCTT	0.527000													18	54					0	0	0.002299	0	0
ITK	3702	broad.mit.edu	37	5	156641321	156641321	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:156641321A>G	ENST00000422843.3	+	4	597	c.445A>G	c.(445-447)Acc>Gcc	p.T149A	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	149					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATATGATCCAACCAAGAATGG	0.423000			T	SYK	peripheral T-cell lymphoma								77	226					0	0	0.003610	0	0
MAN2A2	4122	broad.mit.edu	37	15	91461493	91461493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:91461493C>T	ENST00000360468.3	+	20	3082	c.3064C>T	c.(3064-3066)Ccg>Tcg	p.P1022S	MAN2A2_ENST00000559717.1_Missense_Mutation_p.P1022S|MAN2A2_ENST00000430376.2_Missense_Mutation_p.P212S|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P530S	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1022					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGAACGCCCCGGCGCTCGC	0.592000													221	459					0	0	0.003610	0	0
PROM2	150696	broad.mit.edu	37	2	95941749	95941749	+	Silent	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:95941749T>G	ENST00000317620.9	+	3	499	c.366T>G	c.(364-366)acT>acG	p.T122T	PROM2_ENST00000463580.1_Intron|PROM2_ENST00000317668.4_Silent_p.T122T|PROM2_ENST00000403131.2_Silent_p.T122T|PROM2_ENST00000542147.1_Silent_p.T122T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	122						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TGGTGCCCACTGCCGGGCTTT	0.692000													4	15					0	0	0.000602	0	0
ZNF761	388561	broad.mit.edu	37	19	53958194	53958194	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:53958194C>T	ENST00000454407.1	+	0	886							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATCAAGCTTTCATTCGCATCT	0.388000													41	65					0	0	0.008740	0	0
PATL1	219988	broad.mit.edu	37	11	59423511	59423511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:59423511G>A	ENST00000300146.9	-	7	815	c.731C>T	c.(730-732)tCc>tTc	p.S244F		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	244	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ACCCAGGAGGGAAGAGTTCTA	0.428000													4	12					0	0	0.000602	0	0
GEMIN5	25929	broad.mit.edu	37	5	154278121	154278121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:154278121G>A	ENST00000285873.7	-	23	3299	c.3224C>T	c.(3223-3225)gCt>gTt	p.A1075V		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1075					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TACGATGGCAGCCAACTCTGC	0.532000													33	39					0	0	0.002836	0	0
NEBL	10529	broad.mit.edu	37	10	21097555	21097555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:21097555C>T	ENST00000377122.4	-	26	3041	c.2645G>A	c.(2644-2646)cGa>cAa	p.R882Q	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	882	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGAATGGGATCGAGACCAGTG	0.423000													43	91					0	0	0.003610	0	0
SULT1C4	27233	broad.mit.edu	37	2	109002778	109002778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:109002778C>T	ENST00000272452.2	+	6	1072	c.746C>T	c.(745-747)tCg>tTg	p.S249L	SULT1C4_ENST00000409309.3_Missense_Mutation_p.S174L	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	249					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AACTATTCATCGATTCCTGCT	0.303000													22	64					0	0	0.005443	0	0
EML1	2009	broad.mit.edu	37	14	100331891	100331891	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:100331891C>T	ENST00000262233.6	+	3	430	c.291C>T	c.(289-291)gtC>gtT	p.V97V	EML1_ENST00000334192.4_Silent_p.V97V|EML1_ENST00000556758.1_3'UTR|EML1_ENST00000327921.9_Silent_p.V66V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	97						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GAACCACGGTCAACAATGGCA	0.468000													18	33					0	0	0.008871	0	0
MPP6	51678	broad.mit.edu	37	7	24703301	24703301	+	Silent	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:24703301T>A	ENST00000396475.2	+	7	1043	c.744T>A	c.(742-744)atT>atA	p.I248I	MPP6_ENST00000222644.4_Silent_p.I248I|MPP6_ENST00000409761.1_Silent_p.I136I	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	248	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AAGGAGAGATTCTTCAGATTG	0.338000													36	54					0	0	0.004878	0	0
INPP1	3628	broad.mit.edu	37	2	191235713	191235713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:191235713C>T	ENST00000392329.2	+	7	1485	c.785C>T	c.(784-786)gCc>gTc	p.A262V	INPP1_ENST00000322522.4_Missense_Mutation_p.A262V|INPP1_ENST00000541441.1_Missense_Mutation_p.A262V	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	262					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	AGTTTTTCAGCCGTAATTAGT	0.478000													52	76					0	0	0.003610	0	0
IMPG1	3617	broad.mit.edu	37	6	76660566	76660566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:76660566C>T	ENST00000369950.3	-	13	1726	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	513					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACCATATCTTCGCCACCTGCA	0.493000													18	34					0	0	0.004990	0	0
PRMT7	54496	broad.mit.edu	37	16	68373461	68373461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:68373461G>A	ENST00000339507.5	+	8	1571	c.741G>A	c.(739-741)atG>atA	p.M247I	PRMT7_ENST00000449359.3_Missense_Mutation_p.M197I|PRMT7_ENST00000348497.4_Missense_Mutation_p.M173I|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Missense_Mutation_p.M197I			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	247					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGCTGCCCATGTTCAGGTACC	0.522000													24	15					0	0	0.005443	0	0
OR1J2	26740	broad.mit.edu	37	9	125273983	125273983	+	Silent	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:125273983T>G	ENST00000335302.5	+	1	903	c.903T>G	c.(901-903)ctT>ctG	p.L301L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						AAGAGGCCCTTGGGAAACTCT	0.398000													32	25					0	0	0.002445	0	0
ST18	9705	broad.mit.edu	37	8	53076606	53076606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:53076606G>A	ENST00000276480.7	-	13	2023	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	447						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTATCCTGGGACATTGCCAA	0.413000													52	86					0	0	0.003610	0	0
UTS2B	257313	broad.mit.edu	37	3	190986220	190986220	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:190986220C>T	ENST00000340524.5	-	9	1131	c.345G>A	c.(343-345)tgG>tgA	p.W115*	UTS2B_ENST00000427544.2_Nonsense_Mutation_p.W115*	NM_198152.3	NP_937795.2			urotensin 2B																		CACAGTATTTCCAAAAGCAAG	0.323000													3	13					0	0	0.000248	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585187	70585187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:70585187G>A	ENST00000260126.3	-	10	3170	c.2464C>T	c.(2464-2466)Ccg>Tcg	p.P822S	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P767S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	822						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGGGCCCCGGGTAGGTCTGT	0.592000													46	68					0	0	0.003610	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099523	142099523	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:142099523G>A	ENST00000390359.3	-	0	317																											TCAGAGTGGAGACGGATCCCT	0.547000													21	42					0	0	0.001523	0	0
PVRL4	81607	broad.mit.edu	37	1	161049491	161049491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:161049491C>T	ENST00000368012.3	-	2	630	c.328G>A	c.(328-330)Ggc>Agc	p.G110S		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	110	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCACTGAGCCGTCCAGGGGG	0.692000													13	12					0	0	0.002450	0	0
FCGBP	8857	broad.mit.edu	37	19	40405985	40405985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:40405985C>T	ENST00000221347.6	-	10	4868	c.4861G>A	c.(4861-4863)Gaa>Aaa	p.E1621K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1621	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGCTGTGTTCCTGGCACACC	0.642000													13	16					0	0	0.002450	0	0
MUTYH	4595	broad.mit.edu	37	1	45797756	45797756	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:45797756C>T	ENST00000450313.1	-	11	1151	c.936G>A	c.(934-936)gtG>gtA	p.V312V	MUTYH_ENST00000372115.3_Silent_p.V298V|MUTYH_ENST00000372100.5_Silent_p.V295V|MUTYH_ENST00000372104.1_Silent_p.V284V|MUTYH_ENST00000448481.1_Silent_p.V295V|MUTYH_ENST00000372110.3_Silent_p.V299V|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000456914.2_Silent_p.V284V|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372098.3_Silent_p.V309V|MUTYH_ENST00000354383.6_Silent_p.V285V|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000355498.2_Silent_p.V284V	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	309					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GTTCCTGCTCCACCTGAGAGG	0.612000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				30	58					0	0	0.001786	0	0
DPYS	1807	broad.mit.edu	37	8	105456519	105456519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:105456519C>T	ENST00000351513.2	-	4	882	c.750G>A	c.(748-750)atG>atA	p.M250I		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	250					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CAGACTTGCTCATCACATGCA	0.517000													11	26					0	0	0.001368	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907791	164907791	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:164907791C>T	ENST00000475390.1	-	2	1271	c.828G>A	c.(826-828)agG>agA	p.R276R	SLITRK3_ENST00000241274.3_Silent_p.R276R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	276	LRRCT 1.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTTCTGTCTTCCTGATTTCTC	0.483000										HNSCC(40;0.11)			22	85					0	0	0.002299	0	0
OBSCN	84033	broad.mit.edu	37	1	228559474	228559474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:228559474G>A	ENST00000570156.2	+	105	23940	c.23866G>A	c.(23866-23868)Ggg>Agg	p.G7956R	OBSCN_ENST00000422127.1_Missense_Mutation_p.G6999R|OBSCN_ENST00000366707.4_Missense_Mutation_p.G4633R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6999					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGGACATGGGGCACCCTCA	0.701000													22	29					0	0	0.004656	0	0
NGFR	4804	broad.mit.edu	37	17	47587845	47587845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:47587845G>A	ENST00000172229.3	+	4	765	c.640G>A	c.(640-642)Gag>Aag	p.E214K	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.E120K	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	214	Ser/Thr-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CAGCACCCAGGAGCCTGAGGC	0.642000													25	53					0	0	0.003330	0	0
IFIT1	3434	broad.mit.edu	37	10	91162436	91162436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:91162436G>A	ENST00000546318.1	+	2	1598	c.311G>A	c.(310-312)aGa>aAa	p.R104K	IFIT1_ENST00000371804.3_Missense_Mutation_p.R135K|LIPA_ENST00000371837.1_Intron	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	135					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TTCCGCTATAGAATGGAGTGT	0.483000													11	50					0	0	0.000978	0	0
LSG1	55341	broad.mit.edu	37	3	194379758	194379758	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:194379758G>A	ENST00000265245.5	-	7	1001	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	229					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTTCTTTTTCGAAGTACATGG	0.478000													45	125					0	0	0.002852	0	0
TNNI3K	51086	broad.mit.edu	37	1	74905258	74905258	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:74905258C>T	ENST00000370891.2	+	22	2282	c.2266C>T	c.(2266-2268)Ctg>Ttg	p.L756L	TNNI3K_ENST00000326637.3_Silent_p.L655L|FPGT-TNNI3K_ENST00000370899.3_Silent_p.L756L|FPGT-TNNI3K_ENST00000557284.1_Silent_p.L756L	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TGCTCTGTGTCTGTGGGAAAT	0.468000													25	41					0	0	0.003954	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917869	144917869	+	Silent	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:144917869A>G	ENST00000529945.1	-	7	2345	c.1906T>C	c.(1906-1908)Ttg>Ctg	p.L636L	PDE4DIP_ENST00000369354.3_Silent_p.L473L|PDE4DIP_ENST00000313431.9_Silent_p.L636L|PDE4DIP_ENST00000313382.9_Silent_p.L539L|PDE4DIP_ENST00000530740.1_Silent_p.L610L|PDE4DIP_ENST00000479408.2_Silent_p.L260L|PDE4DIP_ENST00000369349.3_Silent_p.L473L|PDE4DIP_ENST00000369351.3_Silent_p.L473L|PDE4DIP_ENST00000369356.4_Silent_p.L473L|PDE4DIP_ENST00000369359.4_Silent_p.L610L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	473					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCTCAAGCAACATTTCATTT	0.378000			T	PDGFRB	MPD								74	380					0	0	0.003610	0	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:152748928G>A	ENST00000334371.2	+	1	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000													9	35					0	0	0.006214	0	0
F13A1	2162	broad.mit.edu	37	6	6266838	6266838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:6266838C>T	ENST00000264870.3	-	4	789	c.524G>A	c.(523-525)cGa>cAa	p.R175Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	175					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCTGGGTTTCGACTGGTTCG	0.463000													37	49					0	0	0.005524	0	0
HSD17B3	3293	broad.mit.edu	37	9	99064372	99064372	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:99064372C>T	ENST00000375263.3	-	1	62	c.15G>A	c.(13-15)ctG>ctA	p.L5L	HSD17B3_ENST00000375262.2_Silent_p.L5L	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	5					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AGAACTGTTCCAGGACGTCCC	0.562000													13	4					0	0	0.001368	0	0
EBF2	64641	broad.mit.edu	37	8	25718576	25718576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:25718576C>T	ENST00000520164.1	-	13	1868	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	EBF2_ENST00000408929.3_Missense_Mutation_p.G296E|EBF2_ENST00000535548.1_Missense_Mutation_p.G175E	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	444					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G444E(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGATTATTTCCTTGTGTTGA	0.473000													45	78					0	0	0.002222	0	0
SORL1	6653	broad.mit.edu	37	11	121477932	121477932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:121477932C>T	ENST00000260197.7	+	37	5228	c.5099C>T	c.(5098-5100)tCc>tTc	p.S1700F	SORL1_ENST00000534286.1_Missense_Mutation_p.S610F|SORL1_ENST00000527934.1_Missense_Mutation_p.S315F|SORL1_ENST00000525532.1_Missense_Mutation_p.S644F|SORL1_ENST00000532694.1_Missense_Mutation_p.S546F	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1700	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATGTGGGCCTCCCAGAGGGCT	0.453000													21	14					0	0	0.002299	0	0
C21orf58	54058	broad.mit.edu	37	21	47742624	47742624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:47742624G>A	ENST00000291691.7	-	1	1165	c.29C>T	c.(28-30)tCc>tTc	p.S10F	C21orf58_ENST00000397685.4_5'UTR|C21orf58_ENST00000397680.1_Intron|C21orf58_ENST00000397682.3_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	10										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CTTCCTGAGggaggttgcagg	0.572000													12	4					0	0	0.000978	0	0
ISOC2	79763	broad.mit.edu	37	19	55967752	55967752	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55967752G>A	ENST00000438389.2	-	2	936	c.102C>T	c.(100-102)ttC>ttT	p.F34F	ISOC2_ENST00000425675.2_Silent_p.F34F|ISOC2_ENST00000085068.3_Silent_p.F34F	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	0					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		CGATCTGTGGGAAGTAGGCGA	0.632000													15	76					0	0	0.007413	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145726100	145726100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:145726100G>A	ENST00000292539.4	+	8	1780	c.863G>A	c.(862-864)gGg>gAg	p.G288E	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.G288E			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	288						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGGCGCACGGGGCCGACCTG	0.726000													22	24					0	0	0.003330	0	0
HYDIN	54768	broad.mit.edu	37	16	70989284	70989284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:70989284C>T	ENST00000393567.2	-	40	6460	c.6310G>A	c.(6310-6312)Gag>Aag	p.E2104K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2104										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTACCAGCCTCCTCTCCTTCC	0.577000													8	51					0	0	0.008291	0	0
IL36B	27177	broad.mit.edu	37	2	113780347	113780347	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:113780347C>T	ENST00000259213.4	-	6	506	c.399G>A	c.(397-399)aaG>aaA	p.K133K		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	133					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TCTTCCACTTCTTTCTACCTG	0.433000													23	41					0	0	0.002780	0	0
EPHA6	285220	broad.mit.edu	37	3	96706657	96706657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:96706657C>T	ENST00000389672.5	+	3	972	c.934C>T	c.(934-936)Cct>Tct	p.P312S	EPHA6_ENST00000542517.1_Missense_Mutation_p.P218S|EPHA6_ENST00000470610.2_Missense_Mutation_p.P312S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	217						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGCCATGTTTCCTGATACCAT	0.468000													9	174					0	0	0.006214	0	0
GLRB	2743	broad.mit.edu	37	4	158058004	158058004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:158058004G>A	ENST00000264428.4	+	6	846	c.576G>A	c.(574-576)atG>atA	p.M192I	GLRB_ENST00000509282.1_Missense_Mutation_p.M192I|GLRB_ENST00000541722.1_Missense_Mutation_p.M192I|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	192					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TGTTTCCCATGGATACACAAC	0.348000													9	41					0	0	0.006214	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232870	1232870	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:1232870G>A	ENST00000324642.3	+	3	429	c.306G>A	c.(304-306)ctG>ctA	p.L102L	SLC6A18_ENST00000296821.4_Silent_p.L102L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	102					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCACAGGGCTGGGCTGTGTCA	0.562000													24	42					0	0	0.004656	0	0
MAP7D3	79649	broad.mit.edu	37	X	135302927	135302927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:135302927G>A	ENST00000316077.9	-	16	2703	c.2483C>T	c.(2482-2484)tCa>tTa	p.S828L	MAP7D3_ENST00000370661.1_Missense_Mutation_p.S793L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.S810L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	828						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GACTCACCTTGAAACTACTTC	0.353000													81	27					0	0	0.003610	0	0
LNX1	84708	broad.mit.edu	37	4	54364864	54364864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:54364864G>A	ENST00000306888.2	-	4	885	c.634C>T	c.(634-636)Cgt>Tgt	p.R212C	LNX1-AS1_ENST00000502373.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.R308C|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	308						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCCCATCACGATAAATGTGT	0.507000													20	31					0	0	0.001882	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718600	142718600	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:142718600A>T	ENST00000381779.4	-	2	550	c.325T>A	c.(325-327)Tta>Ata	p.L109I	SLITRK4_ENST00000356928.1_Missense_Mutation_p.L109I|SLITRK4_ENST00000338017.4_Missense_Mutation_p.L109I	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	109						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGCTTTAATGCACTGAGC	0.418000													46	11					0	0	0.003610	0	0
FBXL18	80028	broad.mit.edu	37	7	5540961	5540961	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:5540961G>A	ENST00000382368.3	-	3	1062	c.939C>T	c.(937-939)ttC>ttT	p.F313F	FBXL18_ENST00000453700.3_Silent_p.F313F	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	313									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		ACGGGTTGTTGAATTTCATGT	0.597000													14	30					0	0	0.001855	0	0
TEP1	7011	broad.mit.edu	37	14	20872010	20872010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:20872010G>A	ENST00000262715.5	-	6	1106	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	356	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCGGGCAGGGGCACCAGCTTA	0.537000													62	98					0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228466963	228466963	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:228466963C>G	ENST00000570156.2	+	32	8575	c.8501C>G	c.(8500-8502)cCc>cGc	p.P2834R	OBSCN_ENST00000359599.6_Missense_Mutation_p.P1252R|OBSCN_ENST00000422127.1_Missense_Mutation_p.P2405R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.P2405R|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1834	Ig-like 28.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCTCCATCCCCTCAGTGCGG	0.637000													38	58					0	0	0.005524	0	0
FAT3	120114	broad.mit.edu	37	11	92565152	92565152	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:92565152G>A	ENST00000298047.6	+	13	9863	c.9846G>A	c.(9844-9846)ggG>ggA	p.G3282G	FAT3_ENST00000409404.2_Silent_p.G3282G|FAT3_ENST00000525166.1_Silent_p.G3132G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3282	Cadherin 30.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACGAACAAGGGAAATTTAAGA	0.483000										TCGA Ovarian(4;0.039)			14	58					0	0	0.002450	0	0
FBXL4	26235	broad.mit.edu	37	6	99322293	99322293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:99322293G>A	ENST00000369244.2	-	10	2155	c.1727C>T	c.(1726-1728)tCc>tTc	p.S576F	FBXL4_ENST00000229971.1_Missense_Mutation_p.S576F			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	576					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTTTCTTAAGGATGCCGGACT	0.348000													26	58					0	0	0.007291	0	0
DACH2	117154	broad.mit.edu	37	X	85969583	85969583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:85969583C>T	ENST00000373131.1	+	5	1088	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	DACH2_ENST00000510272.1_Missense_Mutation_p.P103S|DACH2_ENST00000373125.4_Missense_Mutation_p.P322S|DACH2_ENST00000508860.1_Missense_Mutation_p.P155S	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GATGCCTCATCCCCTACTTCC	0.403000													41	14					0	0	0.003610	0	0
IQGAP3	128239	broad.mit.edu	37	1	156524173	156524173	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:156524173C>T	ENST00000361170.2	-	13	1312	c.1302G>A	c.(1300-1302)caG>caA	p.Q434Q		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	434					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGCTCCTCCTGGCCAAGCT	0.587000													13	21					0	0	0.004990	0	0
ANKRD33	341405	broad.mit.edu	37	12	52283229	52283229	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:52283229G>A	ENST00000301190.6	+	4	827	c.600G>A	c.(598-600)ggG>ggA	p.G200G	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_Silent_p.G65G	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	65										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ACCAGCGGGGGCTCACGGCGT	0.652000													20	32					0	0	0.002299	0	0
RLN2	6019	broad.mit.edu	37	9	5300348	5300348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:5300348G>A	ENST00000381627.3	-	2	696	c.308C>T	c.(307-309)tCt>tTt	p.S103F	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	103					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTGCATCTCAGACAGGGTTAA	0.368000													34	32					0	0	0.002836	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558659	129558659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:129558659C>T	ENST00000422113.2	-	9	3387	c.3061G>A	c.(3061-3063)Gga>Aga	p.G1021R	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G559R	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1021						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGATGGGTCCCAAAGGTTTG	0.458000													18	84					0	0	0.006122	0	0
NAT10	55226	broad.mit.edu	37	11	34149087	34149087	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:34149087C>T	ENST00000257829.3	+	12	1391	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	NAT10_ENST00000531159.2_Silent_p.L323L|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	395						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCATCCCCCTCCCCTTGGTGA	0.522000													21	99					0	0	0.002780	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815487	106815487	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:106815487G>A	ENST00000407775.2	+	8	3427	c.3177G>A	c.(3175-3177)caG>caA	p.Q1059Q	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.Q927Q|ZFPM2_ENST00000520492.1_Silent_p.Q927Q|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.Q790Q	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1059					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCAACCCACAGCAAGAGAACA	0.478000													9	25					0	0	0.006214	0	0
OGDHL	55753	broad.mit.edu	37	10	50964927	50964927	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:50964927G>A	ENST00000374103.4	-	3	355	c.270C>T	c.(268-270)ccC>ccT	p.P90P	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	90					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CAACAGAAGGGGGCCGTGGCT	0.592000													36	41					0	0	0.004289	0	0
MIR551B	693136	broad.mit.edu	37	3	168269663	168269663	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:168269663G>A	ENST00000384984.1	+	0	22					NR_030294.1																						CCTGGCCCATGAAATCAAGCG	0.458000													23	40					0	0	0.002299	0	0
PTPLAD1	51495	broad.mit.edu	37	15	65851053	65851053	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:65851053C>T	ENST00000261875.5	+	5	571	c.405C>T	c.(403-405)agC>agT	p.S135S	PTPLAD1_ENST00000569894.1_Silent_p.S18S|PTPLAD1_ENST00000565299.1_Silent_p.S173S|PTPLAD1_ENST00000568793.1_Silent_p.S110S|PTPLAD1_ENST00000562901.1_Silent_p.S18S|PTPLAD1_ENST00000566074.1_Silent_p.S18S|PTPLAD1_ENST00000442729.2_Silent_p.S80S|PTPLAD1_ENST00000566511.1_Silent_p.S18S	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	135					activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GACTGGAAAGCGAAGGCTCTC	0.428000													12	9					0	0	0.002450	0	0
ZNF280D	54816	broad.mit.edu	37	15	56970922	56970922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:56970922G>A	ENST00000559237.1	-	10	1746	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	ZNF280D_ENST00000396245.1_Missense_Mutation_p.P72S|ZNF280D_ENST00000559000.1_Missense_Mutation_p.P355S|ZNF280D_ENST00000267807.7_Missense_Mutation_p.P368S	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AATGGTGTGGGAAACTGACGG	0.408000													26	46					0	0	0.008361	0	0
ZNF479	90827	broad.mit.edu	37	7	57194383	57194383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:57194383C>T	ENST00000331162.4	-	3	352	c.82G>A	c.(82-84)Gag>Aag	p.E28K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCCATTCCTCCAGAGAGAAT	0.438000													23	37					0	0	0.003330	0	0
UNC79	57578	broad.mit.edu	37	14	94053162	94053162	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:94053162G>A	ENST00000553484.1	+	22	3094	c.2940G>A	c.(2938-2940)aaG>aaA	p.K980K	UNC79_ENST00000256339.4_Silent_p.K803K|UNC79_ENST00000555664.1_Silent_p.K980K|UNC79_ENST00000393151.2_Silent_p.K980K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	980						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTGCCTGAAGATTCTCTGTC	0.368000													41	89					0	0	0.006999	0	0
LGR5	8549	broad.mit.edu	37	12	71977724	71977724	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:71977724T>A	ENST00000266674.5	+	18	2245	c.1934T>A	c.(1933-1935)aTt>aAt	p.I645N	LGR5_ENST00000540815.2_Missense_Mutation_p.I621N|LGR5_ENST00000536515.1_Missense_Mutation_p.I573N			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	645						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTTTTGTCCATTTTTGCTTCA	0.473000													180	346					0	0	0.003610	0	0
BRCA2	675	broad.mit.edu	37	13	32930714	32930714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:32930714G>A	ENST00000544455.1	+	15	7812	c.7585G>A	c.(7585-7587)Ggc>Agc	p.G2529S	BRCA2_ENST00000380152.3_Missense_Mutation_p.G2529S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2529	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGCAGTAGGAGGCCAAGTTCC	0.418000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			34	71					0	0	0.002836	0	0
ZNF582	147948	broad.mit.edu	37	19	56896388	56896388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:56896388C>T	ENST00000301310.4	-	5	556	c.398G>A	c.(397-399)gGa>gAa	p.G133E	ZNF582_ENST00000586929.1_Missense_Mutation_p.G133E	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G133E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GTCTGGATTTCCCTGTTGTCT	0.403000													42	76					0	0	0.008740	0	0
EHD1	10938	broad.mit.edu	37	11	64622204	64622204	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:64622204G>A	ENST00000320631.3	-	5	1460	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S	EHD1_ENST00000359393.2_Silent_p.S402S|EHD1_ENST00000488711.1_5'UTR	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	402					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AAGGCATCAGGGACTCCTCCT	0.672000													16	136					0	0	0.004007	0	0
DNAH8	1769	broad.mit.edu	37	6	38843583	38843583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:38843583G>A	ENST00000359357.3	+	51	7440	c.7186G>A	c.(7186-7188)Gag>Aag	p.E2396K	DNAH8_ENST00000449981.2_Missense_Mutation_p.E2613K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E2360K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACCATGTATGAGTTTTATGT	0.343000													13	18					0	0	0.002450	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95483152	95483152	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:95483152C>T	ENST00000432432.2	-	0	1429					NR_040113.1																						ATAAAGAGTTCATCCTGTGAT	0.264000													3	6					0	0	0.004672	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66989064	66989064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:66989064G>A	ENST00000276570.5	+	4	576	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	97					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GTTTGGAGACGAAAACGTTAA	0.448000													33	81					0	0	0.003271	0	0
GALNT14	79623	broad.mit.edu	37	2	31167752	31167752	+	Missense_Mutation	SNP	G	G	A	rs138204092		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:31167752G>A	ENST00000349752.5	-	8	1438	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	GALNT14_ENST00000324589.5_Missense_Mutation_p.R272W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R234W|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.R232W|GALNT14_ENST00000406653.1_Missense_Mutation_p.R247W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	267						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TCCAGGCGCCGAGCCTTCTGC	0.592000													18	44					0	0	0.006122	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594241	136594241	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:136594241C>T	ENST00000355849.5	+	6	1142	c.732C>T	c.(730-732)ccC>ccT	p.P244P	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	244	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTCTCACTCCCAGAGCAAGAG	0.587000													11	76					0	0	0.008291	0	0
ERCC6	2074	broad.mit.edu	37	10	50690779	50690779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:50690779G>A	ENST00000355832.5	-	10	2201	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	ERCC6_ENST00000542458.1_Missense_Mutation_p.S78F	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	708					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GATGGGGACGGAGAACTGCTC	0.448000								Direct reversal of damage;Nucleotide excision repair (NER)					30	35					0	0	0.002836	0	0
EFNB3	1949	broad.mit.edu	37	17	7611369	7611369	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:7611369C>T	ENST00000226091.2	+	2	613	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	72					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GCCCTCACTCCTCTCCTAATT	0.622000													21	40					0	0	0.008871	0	0
RBP3	5949	broad.mit.edu	37	10	48390014	48390014	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:48390014G>A	ENST00000224600.4	-	1	977	c.864C>T	c.(862-864)ccC>ccT	p.P288P		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	288	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTCCACCAAGGGGCCCCAGGG	0.692000													4	25					0	0	0.001168	0	0
SORL1	6653	broad.mit.edu	37	11	121425922	121425922	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:121425922G>A	ENST00000260197.7	+	18	2595	c.2466G>A	c.(2464-2466)ggG>ggA	p.G822G		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	822					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAAGCACAGGGCAAGAGGTGA	0.473000													50	41					0	0	0.003610	0	0
SCN7A	6332	broad.mit.edu	37	2	167328850	167328850	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:167328850G>A	ENST00000409855.1	-	5	675	c.549C>T	c.(547-549)ctC>ctT	p.L183L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	183					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CGCTGAAATCGAGCCAGTTCC	0.353000													6	10					0	0	0.001984	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541451	40541451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:40541451G>A	ENST00000434248.1	-	5	1380	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.H291Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATTGGAATGAATTTTTTGA	0.378000													54	86					0	0	0.003610	0	0
GABRB1	2560	broad.mit.edu	37	4	47427844	47427844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:47427844G>A	ENST00000295454.3	+	9	1526	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	GABRB1_ENST00000538619.1_Missense_Mutation_p.E342K	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	412					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGCAGCCGCGAGGCCTACGG	0.662000													11	43					0	0	0.008291	0	0
WDTC1	23038	broad.mit.edu	37	1	27631591	27631591	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:27631591C>T	ENST00000319394.3	+	15	2278	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	WDTC1_ENST00000361771.3_Silent_p.S580S	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	581							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGGATGAGTCCATTGTCAACT	0.587000													16	28					0	0	0.006122	0	0
SEC61A2	55176	broad.mit.edu	37	10	12191670	12191670	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:12191670C>T	ENST00000379033.3	+	4	378	c.231C>T	c.(229-231)atC>atT	p.I77I	SEC61A2_ENST00000304267.8_Silent_p.I99I|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379017.3_Silent_p.I99I|SEC61A2_ENST00000379020.4_Silent_p.I99I|SEC61A2_ENST00000298428.9_Silent_p.I99I|SEC61A2_ENST00000379051.1_Silent_p.I99I	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	99						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GAGCCAAAATCATTGAAGTTG	0.403000													80	308					0	0	0.003610	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596460	41596460	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:41596460C>T	ENST00000330436.3	+	4	645	c.645C>T	c.(643-645)tcC>tcT	p.S215S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	215					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CGGCAACCTCCACGGGGCAGG	0.597000													32	56					0	0	0.001786	0	0
C2orf16	84226	broad.mit.edu	37	2	27801023	27801023	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:27801023G>A	ENST00000408964.2	+	1	1635	c.1584G>A	c.(1582-1584)acG>acA	p.T528T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	528										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGTCTGTGACGATACCAAGGC	0.433000													11	55					0	0	0.008291	0	0
EPX	8288	broad.mit.edu	37	17	56272328	56272328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:56272328C>T	ENST00000225371.5	+	6	708	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	200					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCACCAGGTCCGGGCTGTCTC	0.597000													6	16					0	0	0.001168	0	0
PKD1L2	114780	broad.mit.edu	37	16	81142880	81142880	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:81142880C>T	ENST00000534142.1	-	0	1392				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AACGGAGTTTCCAACCAAATA	0.517000													4	10					0	0	0.000248	0	0
MTR	4548	broad.mit.edu	37	1	236973878	236973878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:236973878C>T	ENST00000366577.5	+	5	879	c.485C>T	c.(484-486)cCg>cTg	p.P162L	MTR_ENST00000418145.2_Missense_Mutation_p.P218L|MTR_ENST00000535889.1_Missense_Mutation_p.P162L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	162	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTGGAAAGGCCGGATTATAGG	0.423000													43	101					0	0	0.002222	0	0
ASPM	259266	broad.mit.edu	37	1	197098368	197098368	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:197098368G>A	ENST00000367409.4	-	9	2965	c.2709C>T	c.(2707-2709)tcC>tcT	p.S903S	ASPM_ENST00000294732.7_Silent_p.S903S|ASPM_ENST00000367408.1_Silent_p.S153S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	903					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAATGAGTCTGGAAATTTTAG	0.308000													30	26					0	0	0.008361	0	0
TMEM56	148534	broad.mit.edu	37	1	95657311	95657311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:95657311G>A	ENST00000370203.4	+	7	970	c.679G>A	c.(679-681)Gat>Aat	p.D227N	RP11-57H12.3_ENST00000419846.1_RNA|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	227	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TGTTGTTTTGGATGTGATGAA	0.383000													21	136					0	0	0.001523	0	0
OR5M3	219482	broad.mit.edu	37	11	56237350	56237350	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56237350G>A	ENST00000312240.2	-	1	664	c.624C>T	c.(622-624)tcC>tcT	p.S208S		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTACAGTCAGGGAATATGTGA	0.443000													41	46					0	0	0.003610	0	0
OR52N2	390077	broad.mit.edu	37	11	5841972	5841972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5841972C>T	ENST00000317037.2	+	1	429	c.407C>T	c.(406-408)aCc>aTc	p.T136I	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCTATGCCACCATCCTTACC	0.547000													32	47					0	0	0.003755	0	0
KCTD7	154881	broad.mit.edu	37	7	66270291	66270291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:66270291C>T	ENST00000380828.2	+	10	1259	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S	RABGEF1_ENST00000284957.5_Missense_Mutation_p.P329S|KCTD7_ENST00000451741.2_Missense_Mutation_p.P329S|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P343S|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Missense_Mutation_p.P329S|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P342S|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P329S			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GGGCAACCCCCCACGCCTTCA	0.498000													30	53					0	0	0.002836	0	0
CAT	847	broad.mit.edu	37	11	34470873	34470873	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:34470873G>A	ENST00000241052.4	+	2	290	c.201G>A	c.(199-201)gaG>gaA	p.E67E		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	67					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTGACCGAGAGAGAATTCCTG	0.433000													29	63					0	0	0.002445	0	0
PXDNL	137902	broad.mit.edu	37	8	52359682	52359682	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:52359682G>A	ENST00000356297.4	-	12	1507	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S	PXDNL_ENST00000543296.1_Silent_p.S469S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	469	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAGTGCCAGAGGAGAGAACTG	0.512000													53	89					0	0	0.003610	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409859	56409859	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56409859G>A	ENST00000544374.1	-	1	88	c.60C>T	c.(58-60)ctC>ctT	p.L20L	OR5AP2_ENST00000302981.1_Silent_p.L19L			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GTCCTAAGAGGAGAAATTCTG	0.398000													9	42					0	0	0.000978	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838383	16838383	+	Silent	SNP	C	C	T	rs142792914		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:16838383C>T	ENST00000355661.3	-	11	1840	c.1830G>A	c.(1828-1830)ggG>ggA	p.G610G	PLEKHA7_ENST00000531066.1_Silent_p.G610G|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.G610G			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	610	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTGGAGAATCCCCCAGCGAGA	0.657000													7	38					0	0	0.001984	0	0
ALMS1	7840	broad.mit.edu	37	2	73799595	73799595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:73799595C>T	ENST00000264448.6	+	16	10699	c.10588C>T	c.(10588-10590)Cct>Tct	p.P3530S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P3488S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3530					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTTCCTCTTCCTTATCAAAA	0.368000													11	24					0	0	0.000978	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229699	87229699	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:87229699C>T	ENST00000297524.3	-	3	1282	c.1179_splice	c.e3+1	p.K393_splice	SLC7A13_ENST00000419776.2_Splice_Site_p.K384_splice	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	393						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CCAATTTTACCTTATAAGGTA	0.289000													16	26					0	0	0.006122	0	0
SFTA3	253970	broad.mit.edu	37	14	36946289	36946289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:36946289C>T	ENST00000518529.2	-	3	823	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	RP11-896J10.3_ENST00000521945.1_RNA|SFTA3_ENST00000518987.1_Intron	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	50										breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						ATCCGCTTTTCCCTCTCCCTC	0.522000													31	48					0	0	0.008361	0	0
TP53BP1	7158	broad.mit.edu	37	15	43705503	43705503	+	Missense_Mutation	SNP	G	G	A	rs76780868		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:43705503G>A	ENST00000263801.3	-	24	5356	c.5104C>T	c.(5104-5106)Ccc>Tcc	p.P1702S	TP53BP1_ENST00000382044.4_Missense_Mutation_p.P1707S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P1657S|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P1705S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1702					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTCTCACAGGGGCTCACAAAC	0.537000								Other conserved DNA damage response genes					10	17					0	0	0.006214	0	0
CEP250	11190	broad.mit.edu	37	20	34091199	34091199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:34091199C>T	ENST00000397527.1	+	30	5722	c.5002C>T	c.(5002-5004)Cag>Tag	p.Q1668*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.Q1612*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1668	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGAGGATTCAGGTTCTCGA	0.572000													72	114					0	0	0.003610	0	0
OR10K2	391107	broad.mit.edu	37	1	158389972	158389972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158389972G>A	ENST00000314902.2	-	1	684	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGTGTGGAAGGAAACTGAAGT	0.448000													25	59					0	0	0.004656	0	0
SERPINB10	5273	broad.mit.edu	37	18	61587039	61587039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:61587039G>A	ENST00000238508.3	+	5	449	c.390G>A	c.(388-390)atG>atA	p.M130I		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TAGAAGACATGAAAACATATT	0.338000													9	51					0	0	0.006214	0	0
PALB2	79728	broad.mit.edu	37	16	23640972	23640972	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:23640972A>G	ENST00000261584.4	-	5	2655	c.2503T>C	c.(2503-2505)Tcc>Ccc	p.S835P		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	835					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGTTCGACGGAATGTTTATGC	0.448000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					14	65					0	0	0.004007	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785695	1785695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:1785695C>T	ENST00000539485.1	-	26	3429	c.3196G>A	c.(3196-3198)Gag>Aag	p.E1066K	ATP8B3_ENST00000525591.1_Missense_Mutation_p.E1019K|ATP8B3_ENST00000310127.6_Missense_Mutation_p.E1056K			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1056					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)		AGGCTCTGCTCTGCGCTCACG	0.622000													9	12					0	0	0.008291	0	0
OR2T8	343172	broad.mit.edu	37	1	248084415	248084415	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248084415C>T	ENST00000319968.4	+	1	96	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTGAGTATCGTTTTGACCT	0.483000													24	55					0	0	0.004656	0	0
TAF3	83860	broad.mit.edu	37	10	7866325	7866325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:7866325C>T	ENST00000344293.5	+	2	417	c.211C>T	c.(211-213)Cag>Tag	p.Q71*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	71					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.Q71*(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TGAAGCTTTCCAGCTGATGGG	0.393000													22	77					0	0	0.003330	0	0
GDF10	2662	broad.mit.edu	37	10	48429138	48429138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:48429138C>T	ENST00000224605.2	-	2	1013	c.748G>A	c.(748-750)Gat>Aat	p.D250N		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	250					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.D250N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						ATGGCCAGATCGTTGGCATAG	0.672000													8	14					0	0	0.004482	0	0
CARD11	84433	broad.mit.edu	37	7	2979559	2979559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:2979559C>T	ENST00000396946.4	-	6	1091	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	230					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.D223N(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTTAGCTGATCGATCTGAAAT	0.493000			Mis		DLBCL								30	54					0	0	0.007291	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599060	136599060	+	Missense_Mutation	SNP	G	G	A	rs146790565		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:136599060G>A	ENST00000531224.1	-	4	1211	c.959C>T	c.(958-960)tCg>tTg	p.S320L	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S318L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S318L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S320L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S320L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S318L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	320					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)		AGGATAAAACGAGGAACGGCC	0.398000													26	92					0	0	0.001786	0	0
OR5P3	120066	broad.mit.edu	37	11	7846917	7846917	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7846917G>A	ENST00000328375.1	-	1	602	c.603C>T	c.(601-603)atC>atT	p.I201I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCCAGAAGAGATAGCTGGAA	0.423000													21	36					0	0	0.001523	0	0
AP1B1	162	broad.mit.edu	37	22	29745234	29745234	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:29745234G>A	ENST00000357586.2	-	11	1596	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L	AP1B1_ENST00000405198.1_Silent_p.L470L|AP1B1_ENST00000356015.2_Silent_p.L470L|AP1B1_ENST00000415447.1_Silent_p.L470L|AP1B1_ENST00000317368.7_Silent_p.L470L|AP1B1_ENST00000402502.1_Silent_p.L470L|AP1B1_ENST00000432560.2_Silent_p.L470L	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	470					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGAAGCCCTCGAGGAAGCTCT	0.617000													30	60					0	0	0.002445	0	0
PRMT10	90826	broad.mit.edu	37	4	148575007	148575007	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:148575007A>G	ENST00000322396.6	-	9	2283	c.2041T>C	c.(2041-2043)Tcc>Ccc	p.S681P	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.S568P	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	681						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTTTACCTGGATATTGCAGCT	0.318000													9	40					0	0	0.006214	0	0
TPR	7175	broad.mit.edu	37	1	186303579	186303579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:186303579G>A	ENST00000367478.3	-	36	5356	c.5060C>T	c.(5059-5061)gCt>gTt	p.A1687V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1687					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTATTTCCAGCCATAGCTGC	0.488000			T	NTRK1	papillary thyroid								45	75					0	0	0.002852	0	0
KCTD16	57528	broad.mit.edu	37	5	143586587	143586587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:143586587G>A	ENST00000507359.2	+	2	1401	c.310G>A	c.(310-312)Gga>Aga	p.G104R	KCTD16_ENST00000512467.1_Missense_Mutation_p.G104R	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	104						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TCCAGAAAAAGGAAGACTGAA	0.473000													11	38					0	0	0.001855	0	0
THSD4	79875	broad.mit.edu	37	15	72020956	72020956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:72020956G>A	ENST00000355327.3	+	9	1560	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.E476K|THSD4_ENST00000357769.4_Missense_Mutation_p.E116K			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	476						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGAAAATACGAGGGCGGAGG	0.507000													30	149					0	0	0.006320	0	0
ABCA8	10351	broad.mit.edu	37	17	66878036	66878036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:66878036G>A	ENST00000269080.2	-	29	3931	c.3794C>T	c.(3793-3795)gCc>gTc	p.A1265V	ABCA8_ENST00000586539.1_Missense_Mutation_p.A1305V|ABCA8_ENST00000430352.2_Missense_Mutation_p.A1305V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1265	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATTTCTCGTGGCTATCTTATT	0.473000													46	59					0	0	0.002522	0	0
MUC16	94025	broad.mit.edu	37	19	9071673	9071673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9071673G>A	ENST00000397910.4	-	3	15976	c.15773C>T	c.(15772-15774)tCc>tTc	p.S5258F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5260	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						CTTAATAGAGGAGGTGAAGAC	0.502000													42	83					0	0	0.002522	0	0
HDAC3	8841	broad.mit.edu	37	5	141009672	141009672	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:141009672A>G	ENST00000305264.3	-	4	381	c.302T>C	c.(301-303)tTt>tCt	p.F101S		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	101	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase 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)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GCAGAACTCAAAGAGCCCGGG	0.557000													45	52					0	0	0.003610	0	0
FSHR	2492	broad.mit.edu	37	2	49189899	49189899	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:49189899G>A	ENST00000406846.2	-	10	2180	c.2061C>T	c.(2059-2061)gtC>gtT	p.V687V	FSHR_ENST00000304421.4_Silent_p.V661V|FSHR_ENST00000541117.1_Silent_p.V423V|FSHR_ENST00000346173.3_Silent_p.V625V	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	687					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GACTTAGAGGGACAAGTATGT	0.423000									Gonadal Dysgenesis, 46 XX				31	26					0	0	0.003271	0	0
ZNF90	7643	broad.mit.edu	37	19	20215134	20215134	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:20215134G>A	ENST00000418063.2	+	2	202	c.90G>A	c.(88-90)agG>agA	p.R30R	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	30	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ATTTATATAGGGATGTGATGT	0.393000													34	62					0	0	0.003271	0	0
C8A	731	broad.mit.edu	37	1	57347274	57347274	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:57347274G>A	ENST00000361249.3	+	5	717	c.621G>A	c.(619-621)cgG>cgA	p.R207R		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	207	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATACTTTCGGAAACCCTACA	0.498000													30	48					0	0	0.001786	0	0
FCRL6	343413	broad.mit.edu	37	1	159779293	159779293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:159779293C>T	ENST00000321935.6	+	6	813	c.727C>T	c.(727-729)Ccg>Tcg	p.P243S	FCRL6_ENST00000339348.5_Missense_Mutation_p.P236S|FCRL6_ENST00000368106.3_Missense_Mutation_p.P236S|FCRL6_ENST00000392235.3_Missense_Mutation_p.P141S			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	236	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGGCTCCCCTCCGATCCTGTA	0.587000													23	37					0	0	0.003330	0	0
DMBT1	1755	broad.mit.edu	37	10	124339268	124339268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124339268G>A	ENST00000368909.3	+	10	960	c.854G>A	c.(853-855)gGa>gAa	p.G285E	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.G285E|DMBT1_ENST00000338354.3_Missense_Mutation_p.G285E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G285E|DMBT1_ENST00000368956.2_Missense_Mutation_p.G285E|DMBT1_ENST00000330163.4_Missense_Mutation_p.G285E	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	285	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.G285E(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGCCCCAGGAAATGCCCAG	0.612000													57	180					0	0	0.003610	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220383832	220383832	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:220383832C>T	ENST00000358951.2	-	7	627		c.e7-1			NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GCACACCATTCTAGGAGGAAG	0.473000													45	68					0	0	0.002522	0	0
OR52I1	390037	broad.mit.edu	37	11	4615877	4615877	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:4615877T>A	ENST00000450052.2	+	2	681	c.681T>A	c.(679-681)agT>agA	p.S227R	OR52I1_ENST00000530443.2_Missense_Mutation_p.S203R			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTCTACAGTCTGATTGGTT	0.493000													30	184					0	0	0.004878	0	0
HMGB4	127540	broad.mit.edu	37	1	34330330	34330330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34330330G>A	ENST00000522796.1	+	4	2443	c.538G>A	c.(538-540)Ggg>Agg	p.G180R	HMGB4_ENST00000519684.1_Missense_Mutation_p.G180R|HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	180						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGGTGCAGAGGGAAAAGAGT	0.458000													11	31					0	0	0.002450	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720129	160720129	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:160720129C>T	ENST00000368043.3	+	4	722	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Silent_p.L122L|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000359331.4_Silent_p.L229L	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	229					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATGGTCCTCCTGTGTCTCCT	0.517000													50	180					0	0	0.003610	0	0
SAP130	79595	broad.mit.edu	37	2	128767935	128767935	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:128767935G>A	ENST00000357702.5	-	7	986	c.855C>T	c.(853-855)atC>atT	p.I285I	SAP130_ENST00000259235.3_Silent_p.I285I|SAP130_ENST00000259234.6_Silent_p.I259I	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	285					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CAGCAGGAGGGATGGCATTGG	0.448000													4	36					0	0	0.000602	0	0
CCDC135	84229	broad.mit.edu	37	16	57761237	57761237	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:57761237G>A	ENST00000360716.3	+	16	2333	c.2112G>A	c.(2110-2112)gaG>gaA	p.E704E	CCDC135_ENST00000336825.8_Silent_p.E639E|CCDC135_ENST00000394337.4_Silent_p.E704E			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	704						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGCTTCGAGAGGAAGAGGAGG	0.547000													39	72					0	0	0.002222	0	0
HELZ2	85441	broad.mit.edu	37	20	62199807	62199807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:62199807G>A	ENST00000467148.1	-	5	1703	c.1634C>T	c.(1633-1635)cCc>cTc	p.P545L	RP4-697K14.12_ENST00000454223.1_RNA	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGTGCCAAAGGGGCCATAGAT	0.652000													4	15					0	0	0.000248	0	0
SLC17A2	10246	broad.mit.edu	37	6	25914867	25914867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:25914867C>T	ENST00000377850.3	-	11	1767	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	SLC17A2_ENST00000360488.3_Silent_p.G365G|SLC17A2_ENST00000265425.3_Missense_Mutation_p.G415R			O00624	NPT3_HUMAN	solute carrier family 17, member 2	415					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGCCCAAATCCCCTTGAGATT	0.433000													24	37					0	0	0.006320	0	0
UPK3A	7380	broad.mit.edu	37	22	45689150	45689150	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:45689150C>T	ENST00000216211.4	+	5	692	c.660C>T	c.(658-660)ttC>ttT	p.F220F	UPK3A_ENST00000396082.2_Silent_p.F99F	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	220					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCCTGCCCTTCTTTCTACTTG	0.607000													28	55					0	0	0.008361	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379328	204379328	+	Silent	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:204379328A>T	ENST00000367188.4	-	1	1591	c.1212T>A	c.(1210-1212)gtT>gtA	p.V404V	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	404					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATGAGTAATCAACTACACTTA	0.468000													24	41					0	0	0.004656	0	0
CSMD2	114784	broad.mit.edu	37	1	34174812	34174812	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34174812G>A	ENST00000373381.4	-	22	3629	c.3453C>T	c.(3451-3453)tcC>tcT	p.S1151S	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.S24S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1111	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAAGTTGGGGGACAGCAAAG	0.478000													21	29					0	0	0.001523	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390361	38390361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:38390361C>T	ENST00000329553.2	+	4	637	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		GGTGGGAGGTCGGCAGGAAAA	0.627000													19	7					0	0	0.008871	0	0
PDE8B	8622	broad.mit.edu	37	5	76709015	76709015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:76709015C>T	ENST00000264917.5	+	17	1837	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W	PDE8B_ENST00000342343.4_Missense_Mutation_p.R578W|PDE8B_ENST00000333194.4_Missense_Mutation_p.R543W|PDE8B_ENST00000505283.1_Missense_Mutation_p.R63W|PDE8B_ENST00000346042.3_Missense_Mutation_p.R501W|PDE8B_ENST00000340978.3_Missense_Mutation_p.R551W	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	598	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AACCACTCTTCGGGCCTGGTT	0.483000													226	393					0	0	0.003610	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639275	18639275	+	Missense_Mutation	SNP	G	G	A	rs143136084	by1000genomes	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:18639275G>A	ENST00000380548.4	+	7	1039	c.700G>A	c.(700-702)Ggg>Agg	p.G234R	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.G234R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.G234R|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.G234R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	234						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AACCCTCCAGGGGACTAAAGG	0.428000													10	15					0	0	0.008291	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764324	77764324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:77764324C>T	ENST00000521891.2	+	10	5615	c.5167C>T	c.(5167-5169)Cct>Tct	p.P1723S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1697S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1678S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1678S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1678	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1723T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTCATTTTCCTATGACCCC	0.473000										HNSCC(33;0.089)			23	59					0	0	0.002780	0	0
MUC17	140453	broad.mit.edu	37	7	100685708	100685708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100685708C>T	ENST00000306151.4	+	3	11075	c.11011C>T	c.(11011-11013)Caa>Taa	p.Q3671*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3671	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTACCCAAGTCAGTTC	0.507000													58	92					0	0	0.003610	0	0
SLC7A2	6542	broad.mit.edu	37	8	17400855	17400855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:17400855C>T	ENST00000470360.1	+	4	244	c.127C>T	c.(127-129)Cct>Tct	p.P43S	SLC7A2_ENST00000398090.3_Missense_Mutation_p.P43S|SLC7A2_ENST00000004531.10_Missense_Mutation_p.P43S|SLC7A2_ENST00000494857.1_Missense_Mutation_p.P3S|SLC7A2_ENST00000522656.1_Missense_Mutation_p.P3S			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	3					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAATGATTCCTTGCAGAGC	0.522000													27	34					0	0	0.005443	0	0
FAM227B	196951	broad.mit.edu	37	15	49882087	49882087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:49882087G>A	ENST00000299338.6	-	4	526	c.223C>T	c.(223-225)Cct>Tct	p.P75S	FAM227B_ENST00000561064.1_Missense_Mutation_p.P75S|FAM227B_ENST00000560246.1_Missense_Mutation_p.P75S|FAM227B_ENST00000558594.1_Missense_Mutation_p.P75S|FAM227B_ENST00000558862.1_5'UTR	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		AATATTCGAGGAACATTTTCC	0.294000													16	62					0	0	0.004007	0	0
PMEL	6490	broad.mit.edu	37	12	56352320	56352320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:56352320C>T	ENST00000548747.1	-	4	1068	c.406G>A	c.(406-408)Gga>Aga	p.G136R	PMEL_ENST00000550464.1_Missense_Mutation_p.G50R|PMEL_ENST00000550447.1_Missense_Mutation_p.G99R|PMEL_ENST00000539511.1_Missense_Mutation_p.G50R|PMEL_ENST00000360714.4_Missense_Mutation_p.G136R|PMEL_ENST00000536427.1_Missense_Mutation_p.G136R|PMEL_ENST00000552882.1_Missense_Mutation_p.G136R|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000449260.2_Missense_Mutation_p.G136R|PMEL_ENST00000548493.1_Missense_Mutation_p.G136R			P40967	PMEL_HUMAN	premelanosome protein	136					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGCAAGGTCCACCATCAGGG	0.522000													27	32					0	0	0.004656	0	0
CFHR2	3080	broad.mit.edu	37	1	196918592	196918592	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:196918592C>T	ENST00000367415.4	+	2	180	c.66C>T	c.(64-66)ttC>ttT	p.F22F	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.F22F	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	22	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						CAGCAATGTTCTGTGATTTTC	0.289000													14	17					0	0	0.002450	0	0
RNASEL	6041	broad.mit.edu	37	1	182555078	182555078	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:182555078G>A	ENST00000367559.3	-	2	1117	c.864C>T	c.(862-864)atC>atT	p.I288I	RNASEL_ENST00000539397.1_Silent_p.I288I|RNASEL_ENST00000444138.1_Silent_p.I288I	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	288					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCAACTCGGCGATTTTCTTCA	0.473000													52	84					0	0	0.003610	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280083	22280083	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:22280083C>T	ENST00000390431.3	+	0	272																											GAAACCACTTCTTTCCACTTG	0.498000													19	30					0	0	0.007413	0	0
AGBL1	123624	broad.mit.edu	37	15	86809611	86809611	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:86809611G>A	ENST00000441037.2	+	11	1631	c.1536G>A	c.(1534-1536)agG>agA	p.R512R	AGBL1_ENST00000389298.3_Silent_p.R243R|AGBL1_ENST00000421325.2_Silent_p.R512R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	512					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCAGGATCAGGATATTTGAGG	0.438000													5	10					0	0	0.001984	0	0
CDK11A	728642	broad.mit.edu	37	1	1647848	1647848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:1647848G>A	ENST00000356200.3	-	4	557	c.323C>T	c.(322-324)gCt>gTt	p.A108V	CDK11A_ENST00000358779.5_Missense_Mutation_p.A132V|CDK11A_ENST00000378635.3_Missense_Mutation_p.A132V|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Missense_Mutation_p.A132V|CDK11A_ENST00000378638.2_Missense_Mutation_p.A108V|CDK11A_ENST00000404249.3_Missense_Mutation_p.A142V|CDK11A_ENST00000357760.2_Missense_Mutation_p.A132V					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						TTCCCGGCGAGCTTTATCCTG	0.468000													35	81					0	0	0.004289	0	0
SPEG	10290	broad.mit.edu	37	2	220334094	220334094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:220334094G>A	ENST00000312358.7	+	13	3840	c.3708G>A	c.(3706-3708)atG>atA	p.M1236I	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1236	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACCGGCGCATGACACAGTGTA	0.642000													5	16					0	0	0.000602	0	0
FAM135B	51059	broad.mit.edu	37	8	139164194	139164194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:139164194G>A	ENST00000395297.1	-	13	2694	c.2524C>T	c.(2524-2526)Ccc>Tcc	p.P842S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	842										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGTATCCGGGGCCCTGCTGG	0.517000										HNSCC(54;0.14)			32	77					0	0	0.002445	0	0
KCNH1	3756	broad.mit.edu	37	1	211192252	211192252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:211192252G>A	ENST00000367007.4	-	6	1074	c.905C>T	c.(904-906)tCc>tTc	p.S302F	KCNH1_ENST00000271751.4_Missense_Mutation_p.S302F	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	302					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGCAAACAGGACAGAAGGTC	0.458000													52	88					0	0	0.003610	0	0
HEATR2	54919	broad.mit.edu	37	7	819751	819751	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:819751C>G	ENST00000297440.6	+	12	2421	c.2401C>G	c.(2401-2403)Cca>Gca	p.P801A	HEATR2_ENST00000313147.5_Missense_Mutation_p.P801A|HEATR2_ENST00000403952.3_Missense_Mutation_p.P226A	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	801							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CCTTGACGATCCAGAGAGGGC	0.567000													19	26					0	0	0.001882	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724380	140724380	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140724380G>A	ENST00000253812.6	+	1	780	c.780G>A	c.(778-780)cgG>cgA	p.R260R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGTACCCGGCTGCTCACGG	0.483000													20	31					0	0	0.003954	0	0
EP400	57634	broad.mit.edu	37	12	132529467	132529467	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:132529467G>A	ENST00000333577.4	+	38	6970	c.6861G>A	c.(6859-6861)aaG>aaA	p.K2287K	EP400_ENST00000389561.2_Silent_p.K2251K|EP400_ENST00000389562.2_Silent_p.K2250K|EP400_ENST00000330386.6_Silent_p.K2170K|EP400_ENST00000332482.4_Silent_p.K2214K			Q96L91	EP400_HUMAN	E1A binding protein p400	2287					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACGTGAGGAAGGAGCGGAAGC	0.612000													30	44					0	0	0.001786	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261121	62261121	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:62261121G>T	ENST00000416284.3	-	2	1670	c.86C>A	c.(85-87)tCc>tAc	p.S29Y	FAM19A2_ENST00000551619.1_Missense_Mutation_p.S29Y|FAM19A2_ENST00000551449.1_Missense_Mutation_p.S29Y	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	29						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GTTTGCACTGGATACAACTTT	0.333000													28	52					4.31634e-10	4.8018e-10	0.002445	1	0
MYO3A	53904	broad.mit.edu	37	10	26500877	26500877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:26500877C>T	ENST00000543632.1	+	17	1942	c.1882C>T	c.(1882-1884)Cgt>Tgt	p.R628C	MYO3A_ENST00000265944.5_Silent_p.L1612L			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCCGGCGCCTCGTCCAGCAGT	0.692000													7	17					0	0	0.003080	0	0
DDX60	55601	broad.mit.edu	37	4	169212958	169212958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:169212958C>T	ENST00000393743.3	-	8	1273	c.982G>A	c.(982-984)Gct>Act	p.A328T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	328							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CTAGCACAAGCTCTTTGAGAA	0.388000													21	36					0	0	0.002299	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150322137	150322137	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:150322137C>T	ENST00000520773.1	-	0	1347																											GGCTATAGATCTCCAGCATCA	0.522000													10	32					0	0	0.008291	0	0
AIM1L	55057	broad.mit.edu	37	1	26655269	26655269	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:26655269C>T	ENST00000527815.1	-	15	1837	c.1788G>A	c.(1786-1788)gaG>gaA	p.E596E	AIM1L_ENST00000308182.5_Silent_p.E425E	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	425	Ricin B-type lectin.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGTTGAAGCCCTCGGCTTGCA	0.602000													35	63					0	0	0.005524	0	0
BACE2	25825	broad.mit.edu	37	21	42540503	42540503	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:42540503G>A	ENST00000330333.6	+	1	775		c.e1+1		BACE2_ENST00000328735.6_Splice_Site|BACE2_ENST00000347667.4_Splice_Site	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CCCGCAGAAGGTAGGGACCCC	0.692000													6	5					0	0	0.003080	0	0
PTCH1	5727	broad.mit.edu	37	9	98218603	98218603	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:98218603G>A	ENST00000430669.2	-	19	3648	c.3063C>T	c.(3061-3063)atC>atT	p.I1021I	PTCH1_ENST00000418258.1_Silent_p.I936I|PTCH1_ENST00000331920.6_Silent_p.I1087I|PTCH1_ENST00000375274.2_Silent_p.I1086I|PTCH1_ENST00000437951.1_Silent_p.I1021I|PTCH1_ENST00000421141.1_Silent_p.I936I|PTCH1_ENST00000429896.2_Silent_p.I936I			Q13635	PTC1_HUMAN	patched 1	1087					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAACAGAAGCGATCAGGATGA	0.522000													17	21					0	0	0.007413	0	0
KHDC1	80759	broad.mit.edu	37	6	73952230	73952230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:73952230C>T	ENST00000423730.3	-	2	446	c.11G>A	c.(10-12)gGa>gAa	p.G4E	KHDC1_ENST00000257765.5_Missense_Mutation_p.G4E|KHDC1_ENST00000370384.3_Missense_Mutation_p.G77E																							AGCACTCGTTCCCATGTCCAT	0.527000													21	34					0	0	0.002299	0	0
CDKAL1	54901	broad.mit.edu	37	6	20758841	20758841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:20758841C>T	ENST00000274695.4	+	7	651	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	CDKAL1_ENST00000378624.4_Missense_Mutation_p.R92C|CDKAL1_ENST00000378610.1_Missense_Mutation_p.R162C|RP3-348I23.2_ENST00000421167.1_RNA	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	162	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.R162C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GCAGATAGATCGTGTGGTAGA	0.328000													73	314					0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21781645	21781645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:21781645C>T	ENST00000328843.6	+	50	8067	c.8036C>T	c.(8035-8037)gCt>gTt	p.A2679V	DNAH11_ENST00000409508.3_Missense_Mutation_p.A2672V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2679	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAGCATTTGCTCCATCAATT	0.408000									Kartagener syndrome				50	71					0	0	0.003610	0	0
MYCT1	80177	broad.mit.edu	37	6	153042887	153042887	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:153042887C>T	ENST00000367245.5	+	2	215	c.207C>T	c.(205-207)atC>atT	p.I69I	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	69						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGGACCTTATCATGTCCTTCA	0.378000													30	64					0	0	0.002445	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865894	47865894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:47865894G>A	ENST00000396105.1	-	14	3913	c.3667C>T	c.(3667-3669)Cga>Tga	p.R1223*	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Nonsense_Mutation_p.R1223*	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1223							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCTTGGCTCGGGACAAGGCC	0.507000													44	65					0	0	0.003610	0	0
ZNF71	58491	broad.mit.edu	37	19	57133999	57133999	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57133999C>T	ENST00000328070.6	+	3	1578	c.1344C>T	c.(1342-1344)atC>atT	p.I448I		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	448						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGTCCTTCATCAAGAACTCCT	0.637000													17	25					0	0	0.004990	0	0
PPFIA2	8499	broad.mit.edu	37	12	81734917	81734917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:81734917G>A	ENST00000550584.2	-	19	2628	c.2333C>T	c.(2332-2334)aCc>aTc	p.T778I	PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.T778I|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T778I|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T704I|PPFIA2_ENST00000541570.2_Missense_Mutation_p.T345I|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T679I|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T760I|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T778I|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T625I|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T760I	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	704										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGCTCTAGGGGTAGGAGGAGG	0.448000													36	38					0	0	0.002836	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778202	56778202	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:56778202C>T	ENST00000423391.1	-	1	434	c.333G>A	c.(331-333)ctG>ctA	p.L111L	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	111						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TCTTGGGGTTCAGGGGTGCCT	0.527000													12	31					0	0	0.000978	0	0
TRIM14	9830	broad.mit.edu	37	9	100849829	100849829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:100849829G>A	ENST00000341469.2	-	6	1261	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000538344.1_Missense_Mutation_p.R199C|TRIM14_ENST00000342043.3_Missense_Mutation_p.R418C|TRIM14_ENST00000375098.3_Missense_Mutation_p.R418C	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	418	B30.2/SPRY.			RLRPRDDLDRLGVFLDYEAGVLAFYDVTGGMSHLHTFRATF QEPLYPALRLWEGAISIPRLP -> ACGPATTSTGSASSWT TRPASSPSTT (in Ref. 2; BAA09478).		cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AACGTGGCGCGGAAGGTATGC	0.716000													5	0					0	0	0.000602	0	0
FAT1	2195	broad.mit.edu	37	4	187534477	187534477	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:187534477G>A	ENST00000441802.2	-	13	9458	c.9249C>T	c.(9247-9249)acC>acT	p.T3083T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3083	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATCAAGGGGGGTTGACGTTT	0.448000										HNSCC(5;0.00058)			30	47					0	0	0.002096	0	0
WDR89	112840	broad.mit.edu	37	14	64065642	64065642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:64065642C>T	ENST00000394942.2	-	2	1107	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Missense_Mutation_p.G340E	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	340										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TGCATCTTCTCCTCCAGTCAA	0.448000													46	69					0	0	0.003214	0	0
LILRP2	79166	broad.mit.edu	37	19	55220652	55220652	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55220652C>T	ENST00000413439.1	+	0	790																											CAGCGAGCCCCTGGAGCTGGT	0.592000													9	16					0	0	0.000978	0	0
CMYA5	202333	broad.mit.edu	37	5	79032757	79032757	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:79032757C>T	ENST00000446378.2	+	2	8200	c.8169C>T	c.(8167-8169)ttC>ttT	p.F2723F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2723						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTAAGACTTTCCTGCCAGTGG	0.393000													15	16					0	0	0.003163	0	0
ANO2	57101	broad.mit.edu	37	12	5756906	5756906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:5756906G>A	ENST00000327087.8	-	16	1678	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F	ANO2_ENST00000356134.5_Missense_Mutation_p.S537F|ANO2_ENST00000546188.1_Missense_Mutation_p.S537F|ANO2_ENST00000538154.1_5'UTR			Q9NQ90	ANO2_HUMAN	anoctamin 2	541						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						GAATAAGATGGAGGCAAAGTT	0.458000													6	10					0	0	0.001168	0	0
AOC4P	90586	broad.mit.edu	37	17	41019658	41019658	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:41019658G>A	ENST00000585538.1	+	0	497					NR_002773.1																						CACCTGCCCGGGAGGCACTGG	0.657000													23	23					0	0	0.003330	0	0
TMEM67	91147	broad.mit.edu	37	8	94828614	94828614	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:94828614C>T	ENST00000453321.3	+	28	2980	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	TMEM67_ENST00000409623.3_Silent_p.I893I	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	974					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTAGATATATCCGTAATACAG	0.259000													28	43					0	0	0.008361	0	0
KIAA1328	57536	broad.mit.edu	37	18	34753042	34753042	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:34753042C>T	ENST00000591619.1	+	9	2295	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	KIAA1328_ENST00000435985.2_Silent_p.S259S|KIAA1328_ENST00000280020.5_Silent_p.S507S|KIAA1328_ENST00000543923.1_Silent_p.S399S|KIAA1328_ENST00000586135.1_Silent_p.S259S			Q86T90	K1328_HUMAN	KIAA1328	507										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		ACACCACCTCCCGGTAAGCTT	0.388000													42	52					0	0	0.007835	0	0
LPXN	9404	broad.mit.edu	37	11	58338113	58338113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:58338113G>A	ENST00000528489.1	-	2	308	c.74C>T	c.(73-75)cCc>cTc	p.P25L	LPXN_ENST00000528954.1_Silent_p.P34P|LPXN_ENST00000395074.2_Silent_p.P29P			O60711	LPXN_HUMAN	leupaxin	0					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCTGATCCAGGGGAAGAGGAG	0.443000													17	46					0	0	0.004990	0	0
GMDS	2762	broad.mit.edu	37	6	1961196	1961196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:1961196G>A	ENST00000380815.4	-	5	619	c.350C>T	c.(349-351)tCc>tTc	p.S117F	GMDS_ENST00000530927.1_Missense_Mutation_p.S87F	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	117					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GAGGTCAAAGGAAATCTGGAA	0.468000													10	15					0	0	0.006214	0	0
POLA2	23649	broad.mit.edu	37	11	65049962	65049962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:65049962C>T	ENST00000265465.3	+	10	1507	c.976C>T	c.(976-978)Cca>Tca	p.P326S	POLA2_ENST00000541089.1_Missense_Mutation_p.P118S	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	326					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TGTGCCACTTCCATTTTATCA	0.502000													26	65					0	0	0.008361	0	0
FAT3	120114	broad.mit.edu	37	11	92533956	92533956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:92533956G>A	ENST00000298047.6	+	9	7794	c.7777G>A	c.(7777-7779)Gaa>Aaa	p.E2593K	FAT3_ENST00000409404.2_Missense_Mutation_p.E2593K|FAT3_ENST00000525166.1_Missense_Mutation_p.E2443K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2593	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTTGTGGATGAAAATGACAA	0.483000										TCGA Ovarian(4;0.039)			242	162					0	0	0.003610	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285022	55285022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55285022C>T	ENST00000336077.6	+	3	348	c.308C>T	c.(307-309)tCt>tTt	p.S103F	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S103F|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	103	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TGCTACGGTTCTGTTACTCAC	0.527000													110	43					0	0	0.003610	0	0
PRDM9	56979	broad.mit.edu	37	5	23527010	23527010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:23527010G>A	ENST00000296682.3	+	11	1995	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	605					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACAGGGGAGAAGCCCTA	0.602000										HNSCC(3;0.000094)			38	66					0	0	0.003610	0	0
LUM	4060	broad.mit.edu	37	12	91502583	91502583	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:91502583C>T	ENST00000266718.4	-	2	628	c.174G>A	c.(172-174)ttG>ttA	p.L58L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	58	LRRNT.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GTACACTTTTCAATTTCAGCT	0.413000													11	42					0	0	0.001855	0	0
CAST	831	broad.mit.edu	37	5	96078387	96078387	+	Missense_Mutation	SNP	C	C	T	rs138552693		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:96078387C>T	ENST00000395813.1	+	16	1313	c.1127C>T	c.(1126-1128)gCt>gTt	p.A376V	CAST_ENST00000509903.1_Missense_Mutation_p.A258V|CAST_ENST00000508608.1_Missense_Mutation_p.A339V|CAST_ENST00000510756.1_Missense_Mutation_p.A354V|CAST_ENST00000511782.1_Missense_Mutation_p.A279V|CTC-506B8.1_ENST00000502568.1_RNA|CAST_ENST00000511049.1_Missense_Mutation_p.A279V|CAST_ENST00000508830.1_Missense_Mutation_p.A376V|CAST_ENST00000395812.2_Missense_Mutation_p.A335V|CAST_ENST00000338252.3_Missense_Mutation_p.A280V|CAST_ENST00000504465.1_Missense_Mutation_p.A221V|CAST_ENST00000359176.4_Missense_Mutation_p.A357V|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000325674.7_Missense_Mutation_p.A341V|CAST_ENST00000309190.5_Missense_Mutation_p.A271V|CAST_ENST00000508579.1_Missense_Mutation_p.A8V|CAST_ENST00000341926.3_Missense_Mutation_p.A293V			P20810	ICAL_HUMAN	calpastatin	293							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GCACTCGAGGCTCTGTCGGCT	0.453000													8	29					0	0	0.004482	0	0
FMO4	2329	broad.mit.edu	37	1	171310799	171310799	+	Nonsense_Mutation	SNP	C	C	T	rs145740321		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:171310799C>T	ENST00000367749.3	+	10	1828	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	500					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTTAAAAACTCGAATTGTCCC	0.478000													17	21					0	0	0.004007	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:21974679G>A	ENST00000304494.5	-	1	418	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTC	0.682000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			150	116					0	0	0.003610	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623790	21623790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21623790G>A	ENST00000304418.3	-	1	432	c.395C>T	c.(394-396)aCc>aTc	p.T132I		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GTTCACCAGGGTCTGGGGCAC	0.517000													27	62					0	0	0.006320	0	0
KANK4	163782	broad.mit.edu	37	1	62738893	62738893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:62738893G>A	ENST00000371153.4	-	3	2261	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	628										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CGGGGAGGAGGAGGAGGCCGG	0.577000													22	35					0	0	0.004656	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110465061	110465061	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:110465061C>T	ENST00000378402.5	+	43	6726	c.6622C>T	c.(6622-6624)Ctg>Ttg	p.L2208L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2208	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACCATTCTGCTGGATCAAAG	0.398000										HNSCC(38;0.096)			4	5					0	0	0.000248	0	0
ARMC4	55130	broad.mit.edu	37	10	28101521	28101521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28101521C>T	ENST00000305242.5	-	20	3147	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	ARMC4_ENST00000545014.1_Silent_p.R584R|ARMC4_ENST00000537576.1_Intron	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	1019							binding	p.D1019Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCTGGAGATCCTGGTCAGGG	0.418000													15	83					0	0	0.004990	0	0
CACNG2	10369	broad.mit.edu	37	22	36983539	36983539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:36983539C>T	ENST00000300105.6	-	2	1249	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	90					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GTGTCAGCTTCGTAATCTGCA	0.473000													70	139					0	0	0.003610	0	0
ENPP6	133121	broad.mit.edu	37	4	185039019	185039019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:185039019C>T	ENST00000296741.2	-	4	709	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	190					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCAATGCGCTCATGGTATATG	0.607000													27	42					0	0	0.003954	0	0
SLIT3	6586	broad.mit.edu	37	5	168093533	168093533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:168093533G>A	ENST00000519560.1	-	36	4917	c.4498C>T	c.(4498-4500)Cag>Tag	p.Q1500*	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Nonsense_Mutation_p.Q1507*	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1500	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGTGCACTGGAAGACGTAT	0.637000													12	16					0	0	0.001855	0	0
ENPP1	5167	broad.mit.edu	37	6	132204911	132204911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:132204911C>T	ENST00000360971.2	+	22	2328	c.2308C>T	c.(2308-2310)Caa>Taa	p.Q770*		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	770	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCAGAGTTTTCAAGGTAAATA	0.274000													43	78					0	0	0.002852	0	0
CLCNKB	1188	broad.mit.edu	37	1	16383395	16383395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:16383395C>T	ENST00000375679.4	+	20	2159	c.2048C>T	c.(2047-2049)cCg>cTg	p.P683L	CLCNKB_ENST00000375667.3_Missense_Mutation_p.P513L	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACAAATCCGCCAGCCCCA	0.572000													9	23					0	0	0.001855	0	0
CELSR3	1951	broad.mit.edu	37	3	48698246	48698246	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:48698246G>A	ENST00000544264.1	-	1	2102	c.1822C>T	c.(1822-1824)Ctg>Ttg	p.L608L	CELSR3_ENST00000164024.4_Silent_p.L608L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	608	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCGAAGTCCAGAGGTGCCACC	0.607000													13	17					0	0	0.001855	0	0
FFAR4	338557	broad.mit.edu	37	10	95335855	95335855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:95335855C>T	ENST00000371483.4	+	2	631	c.575C>T	c.(574-576)tCg>tTg	p.S192L	FFAR4_ENST00000371481.4_Missense_Mutation_p.S192L|FFAR4_ENST00000604414.1_Missense_Mutation_p.S192L	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		TAGGAAATTTCGATTTGCACA	0.438000													36	47					0	0	0.006999	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705355	189705355	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:189705355C>T	ENST00000319332.5	-	5	1256	c.1059G>A	c.(1057-1059)ctG>ctA	p.L353L	LEPREL1_ENST00000427335.2_Silent_p.L172L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	353					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCTATCATCCAGCAGACTCT	0.413000													14	43					0	0	0.003163	0	0
SLC26A6	65010	broad.mit.edu	37	3	48669454	48669454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:48669454G>A	ENST00000455886.2	-	5	552	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000395550.2_Silent_p.F203F|SLC26A6_ENST00000383733.3_Silent_p.F203F|SLC26A6_ENST00000420764.2_Silent_p.F203F|SLC26A6_ENST00000358747.6_Silent_p.F182F					solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CCACGAAGCCGAAGTGGATCA	0.612000													18	95					0	0	0.008871	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048186	102048186	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:102048186G>A	ENST00000318222.3	-	16	2767	c.2385C>T	c.(2383-2385)tcC>tcT	p.S795S	PKD2L1_ENST00000353274.3_3'UTR|PKD2L1_ENST00000338519.3_Silent_p.S720S	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	795					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCTCACCACGGGAGAGTCTCC	0.517000													51	73					0	0	0.003610	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211681	50211681	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:50211681C>T	ENST00000002829.3	+	5	838	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SEMA3F_ENST00000413852.1_Silent_p.F50F|SEMA3F_ENST00000434342.1_Silent_p.F118F	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	118	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GTGGGAACTTCGTCAGGCTCA	0.647000													9	55					0	0	0.006214	0	0
MPP7	143098	broad.mit.edu	37	10	28409531	28409531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28409531C>T	ENST00000337532.5	-	10	958	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	MPP7_ENST00000445954.2_Missense_Mutation_p.E103K|MPP7_ENST00000540098.1_Missense_Mutation_p.E228K|MPP7_ENST00000375719.3_Missense_Mutation_p.E228K|MPP7_ENST00000375732.1_Missense_Mutation_p.E228K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	228	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ACCTTGCCTTCTTTTGATGGT	0.388000													13	19					0	0	0.002450	0	0
PRPF8	10594	broad.mit.edu	37	17	1582092	1582092	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:1582092G>A	ENST00000572621.1	-	11	1948	c.1683C>T	c.(1681-1683)caC>caT	p.H561H	PRPF8_ENST00000304992.6_Silent_p.H561H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	561						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATACTGCACGTGACTATCCA	0.522000													20	12					0	0	0.003954	0	0
RAF1	5894	broad.mit.edu	37	3	12660162	12660162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:12660162G>A	ENST00000251849.4	-	2	498	c.59C>T	c.(58-60)gCc>gTc	p.A20V	RAF1_ENST00000542177.1_5'UTR|RAF1_ENST00000442415.2_Missense_Mutation_p.A20V	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	20					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATCAAACACGGCATCTTTGAA	0.453000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				30	47					0	0	0.002096	0	0
ZNF491	126069	broad.mit.edu	37	19	11917700	11917700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11917700C>T	ENST00000323169.5	+	3	1263	c.932C>T	c.(931-933)tCc>tTc	p.S311F	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TTCACTTGTTCCACTTCGTTT	0.433000													16	8					0	0	0.003163	0	0
CACNA1E	777	broad.mit.edu	37	1	181745302	181745302	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:181745302C>T	ENST00000526775.1	+	37	5313	c.5148C>T	c.(5146-5148)atC>atT	p.I1716I	CACNA1E_ENST00000358338.5_Silent_p.I1667I|CACNA1E_ENST00000367573.2_Silent_p.I1735I|CACNA1E_ENST00000367567.4_Silent_p.I1342I|CACNA1E_ENST00000357570.5_Silent_p.I1686I|CACNA1E_ENST00000367570.1_Silent_p.I1735I|CACNA1E_ENST00000360108.3_Silent_p.I1716I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1735					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I1735I(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTCCTCCATCCTGGGGCCTC	0.607000													62	97					0	0	0.003610	0	0
FBXO44	93611	broad.mit.edu	37	1	11716079	11716079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:11716079C>T	ENST00000376770.1	+	3	685	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	FBXO44_ENST00000251547.5_Nonsense_Mutation_p.Q63*|FBXO44_ENST00000251546.4_Nonsense_Mutation_p.Q63*|FBXO44_ENST00000376762.4_Nonsense_Mutation_p.Q63*|FBXO44_ENST00000376760.1_Nonsense_Mutation_p.Q63*|FBXO44_ENST00000376768.1_Nonsense_Mutation_p.Q63*	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	63					protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTGGGACCAGCCCGTGGC	0.632000													37	61					0	0	0.005524	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225062	79225062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:79225062G>A	ENST00000288439.5	-	14	2641	c.2296C>T	c.(2296-2298)Cgt>Tgt	p.R766C	SLC38A10_ENST00000374759.3_Intron	NM_138570.2	NP_612637.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	0					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCATGTGACGATGCCGCAGG	0.488000													72	113					0	0	0.003610	0	0
ITGAD	3681	broad.mit.edu	37	16	31424240	31424240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:31424240G>A	ENST00000389202.2	+	15	1838	c.1789G>A	c.(1789-1791)Gga>Aga	p.G597R		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	597					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CACCCAGGATGGACTGATGGA	0.652000													13	59					0	0	0.001855	0	0
PSPH	5723	broad.mit.edu	37	7	56085030	56085030	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:56085030G>A	ENST00000395471.3	-	6	1123	c.318C>T	c.(316-318)ttC>ttT	p.F106F	PSPH_ENST00000275605.3_Silent_p.F106F|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	106					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGATATTAGGAAAACCTGAA	0.363000													9	21					0	0	0.004482	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86863241	86863241	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:86863241G>A	ENST00000395184.1	+	5	880	c.414G>A	c.(412-414)gaG>gaA	p.E138E	ARHGAP24_ENST00000395183.2_Silent_p.E43E|ARHGAP24_ENST00000264343.4_Silent_p.E45E|ARHGAP24_ENST00000503995.1_Silent_p.E138E	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	138	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AGAAACTGGAGGATACTGTTC	0.413000													15	30					0	0	0.004990	0	0
LRP12	29967	broad.mit.edu	37	8	105511596	105511596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:105511596G>A	ENST00000276654.5	-	4	532	c.424C>T	c.(424-426)Cat>Tat	p.H142Y	LRP12_ENST00000424843.2_Missense_Mutation_p.H123Y	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	142	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCATCCGAATGAAACCTAATC	0.348000													34	72					0	0	0.004878	0	0
POPDC2	64091	broad.mit.edu	37	3	119378809	119378809	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:119378809G>A	ENST00000493094.1	-	1	921	c.462C>T	c.(460-462)atC>atT	p.I154I	POPDC2_ENST00000264231.3_Silent_p.I154I|POPDC2_ENST00000468801.1_Silent_p.I154I|POPDC2_ENST00000538678.1_Silent_p.I154I|POPDC2_ENST00000474523.1_5'UTR			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	154						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		ACAGGCGGTTGATGGGTGTCT	0.532000													41	35					0	0	0.008740	0	0
TTN	7273	broad.mit.edu	37	2	179593061	179593061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179593061G>A	ENST00000589042.1	-	67	19714	c.19490C>T	c.(19489-19491)tCt>tTt	p.S6497F	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S6180F|TTN_ENST00000342992.6_Missense_Mutation_p.S5253F|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6180	Ig-like 46.						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)			CATATGAATAGAAGAGCCCAG	0.368000													4	17					0	0	0.000248	0	0
ABCB5	340273	broad.mit.edu	37	7	20721179	20721179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:20721179C>T	ENST00000404938.2	+	15	2411	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R142*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	142	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCTACTATTCGAAGTGCAGA	0.398000													20	35					0	0	0.008871	0	0
WDPCP	51057	broad.mit.edu	37	2	63380059	63380059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:63380059C>T	ENST00000409120.1	-	11	5154	c.1604G>A	c.(1603-1605)gGc>gAc	p.G535D	WDPCP_ENST00000272321.7_Missense_Mutation_p.G727D|WDPCP_ENST00000409199.1_Missense_Mutation_p.G535D|WDPCP_ENST00000398544.3_Missense_Mutation_p.G568D			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	727					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.G727V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTGTTCTCTGCCGTCTTCTCT	0.274000													14	24					0	0	0.004990	0	0
ERICH1	157697	broad.mit.edu	37	8	623858	623858	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:623858A>T	ENST00000262109.7	-	4	571	c.494T>A	c.(493-495)cTg>cAg	p.L165Q	ERICH1_ENST00000522706.1_Missense_Mutation_p.L71Q	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	165										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TTTCTTTTTCAGTTTCCTTTT	0.438000													49	53					0	0	0.003610	0	0
TTC4	7268	broad.mit.edu	37	1	55207154	55207154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:55207154C>T	ENST00000371281.3	+	10	1219	c.1132C>T	c.(1132-1134)Ctc>Ttc	p.L378F	MROH7_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	378							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						CAAGAATTTTCTCCGGGGGAG	0.507000													52	83					0	0	0.003610	0	0
DBH	1621	broad.mit.edu	37	9	136501715	136501715	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:136501715C>T	ENST00000393056.2	+	1	234	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	74	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCATCCATTTCCAGCTCCTGG	0.637000													17	11					0	0	0.004007	0	0
PAK7	57144	broad.mit.edu	37	20	9523338	9523338	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:9523338C>T	ENST00000378429.3	-	10	2445	c.1899G>A	c.(1897-1899)gtG>gtA	p.V633V	PAK7_ENST00000378423.1_Silent_p.V633V|PAK7_ENST00000353224.5_Silent_p.V633V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	633	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCATTTCTATCACCATGATCC	0.527000													64	77					0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126411253	126411253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:126411253C>T	ENST00000394329.3	+	17	13289	c.13276C>T	c.(13276-13278)Cct>Tct	p.P4426S	FAT4_ENST00000335110.5_Missense_Mutation_p.P2667S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4426	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGGTGTGTCCCTCCTGGGGA	0.607000													45	62					0	0	0.008740	0	0
C10orf120	399814	broad.mit.edu	37	10	124457272	124457272	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:124457272T>C	ENST00000329446.4	-	3	1016	c.985A>G	c.(985-987)Aaa>Gaa	p.K329E		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	329										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GGAGTTGCTTTACGCATGCGC	0.453000													32	39					0	0	0.003755	0	0
FAM19A4	151647	broad.mit.edu	37	3	68788229	68788229	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:68788229C>T	ENST00000295569.7	-	5	900	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	136						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TACTTGCCTTCGTAGTTTTGA	0.408000													12	70					0	0	0.001855	0	0
CACNA1E	777	broad.mit.edu	37	1	181762924	181762924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:181762924C>T	ENST00000357570.5	+	45	6187	c.5875C>T	c.(5875-5877)Ccc>Tcc	p.P1959S	CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P2008S|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1989S			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2008					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GACTGTGGATCCCCAGGTAAA	0.512000													11	11					0	0	0.001368	0	0
ASIC1	41	broad.mit.edu	37	12	50474934	50474934	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:50474934G>A	ENST00000228468.4	+	10	1870	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	ASIC1_ENST00000552438.1_Silent_p.T483T|ASIC1_ENST00000447966.2_Silent_p.T449T	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	449					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCATCCTCACGGTGCTGGAGC	0.731000													11	21					0	0	0.003163	0	0
YME1L1	10730	broad.mit.edu	37	10	27425278	27425278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:27425278G>A	ENST00000326799.3	-	6	786	c.638C>T	c.(637-639)tCa>tTa	p.S213L	YME1L1_ENST00000375972.3_Missense_Mutation_p.S123L|YME1L1_ENST00000376016.3_Missense_Mutation_p.S156L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	213					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCGTGTCCTTGATTTCAAAGT	0.358000													19	32					0	0	0.001523	0	0
C6	729	broad.mit.edu	37	5	41155184	41155184	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:41155184A>C	ENST00000263413.3	-	14	2255	c.1991T>G	c.(1990-1992)gTt>gGt	p.V664G	C6_ENST00000337836.5_Missense_Mutation_p.V664G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	664	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATCTTCTCCAACCAAGTATAG	0.383000													37	41					0	0	0.006999	0	0
PRSS41	360226	broad.mit.edu	37	16	2854948	2854948	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:2854948G>A	ENST00000399677.1	+	0	772							Q7RTY9	PRS41_HUMAN	protease, serine, 41						proteolysis	anchored to membrane|plasma membrane	serine-type endopeptidase activity										CTGTGACAAGGATGGACTGTG	0.592000													2	0					0	0	0.004672	0	0
ADAM12	8038	broad.mit.edu	37	10	127737933	127737933	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:127737933G>A	ENST00000368679.4	-	16	2124	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	ADAM12_ENST00000368676.4_Silent_p.I605I	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	605	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCTGCAGGGGGATGTTTGTTT	0.557000													23	78					0	0	0.002299	0	0
DPP10	57628	broad.mit.edu	37	2	116066837	116066837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:116066837C>T	ENST00000410059.1	+	2	563	c.83C>T	c.(82-84)cCa>cTa	p.P28L	DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.P21L|DPP10_ENST00000393147.2_Missense_Mutation_p.P32L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	28	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AACAGCCCTCCACAGAGAAAC	0.398000													10	29					0	0	0.000978	0	0
VNN1	8876	broad.mit.edu	37	6	133013564	133013564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:133013564C>T	ENST00000367928.4	-	5	999	c.986G>A	c.(985-987)gGa>gAa	p.G329E		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	329					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TTCCTTGTTTCCTGATGAGAG	0.453000													15	25					0	0	0.004007	0	0
MECOM	2122	broad.mit.edu	37	3	168833510	168833510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:168833510G>A	ENST00000464456.1	-	7	2786	c.1586C>T	c.(1585-1587)tCg>tTg	p.S529L	MECOM_ENST00000472280.1_Missense_Mutation_p.S530L|MECOM_ENST00000264674.3_Missense_Mutation_p.S594L|MECOM_ENST00000494292.1_Missense_Mutation_p.S717L|MECOM_ENST00000392736.3_Missense_Mutation_p.S529L|MECOM_ENST00000460814.1_Missense_Mutation_p.S529L|MECOM_ENST00000468789.1_Missense_Mutation_p.S529L|MECOM_ENST00000433243.2_Missense_Mutation_p.S530L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAAAGGTAACGATCTCAAGTC	0.438000													14	54					0	0	0.002450	0	0
BNIP2	663	broad.mit.edu	37	15	59961534	59961534	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:59961534G>A	ENST00000267859.3	-	8	1191	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	BNIP2_ENST00000607373.1_Silent_p.I245I|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000415213.2_Silent_p.I307I			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	245					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						GATGTACAATGATTAGGGATT	0.279000													27	49					0	0	0.006320	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603430	140603430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140603430G>A	ENST00000239449.4	+	1	353	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		118	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTTTTTTCGGTTTGAGCTG	0.433000													24	84					0	0	0.003330	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203800888	203800888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:203800888C>T	ENST00000545588.1	+	8	4627	c.800C>T	c.(799-801)tCc>tTc	p.S267F	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.S267F|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.S267F|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.S267F|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.S267F	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	267							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTAACTCTCTCCACCAAACAA	0.428000													11	28					0	0	0.008291	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122263337	122263337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:122263337G>A	ENST00000398250.1	+	2	416	c.64G>A	c.(64-66)Gag>Aag	p.E22K	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.E12K|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.E22K|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.E22K|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.E22K	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	22					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CAGTTTTACAGAGTTTTTGGA	0.458000													7	27					0	0	0.001984	0	0
KNTC1	9735	broad.mit.edu	37	12	123102893	123102893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:123102893C>T	ENST00000333479.7	+	58	6211	c.6034C>T	c.(6034-6036)Ccc>Tcc	p.P2012S	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Missense_Mutation_p.P937S|KNTC1_ENST00000537348.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2012					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCACAGGTTCCCTACTTCAG	0.443000													10	20					0	0	0.008291	0	0
CSMD2	114784	broad.mit.edu	37	1	34052145	34052145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34052145C>T	ENST00000373381.4	-	46	7186	c.7010G>A	c.(7009-7011)gGa>gAa	p.G2337E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2339	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGTAGGTTCCAAGTTTGCA	0.488000													21	55					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179611474	179611474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179611474C>T	ENST00000360870.5	-	46	15875	c.15653G>A	c.(15652-15654)cGa>cAa	p.R5218Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8737	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R5218Q(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)			AGATTTATTTCGATACCATTT	0.373000													30	39					0	0	0.001786	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370597	26370597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:26370597G>A	ENST00000356386.2	+	5	669	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	BTN3A2_ENST00000377708.2_Missense_Mutation_p.G161R|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G161R|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G119R|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G161R|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G138R	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	161						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TGAGGATGGAGGGATCCATCT	0.527000													28	66					0	0	0.005443	0	0
KPNA6	23633	broad.mit.edu	37	1	32620246	32620246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:32620246C>T	ENST00000373625.3	+	2	155	c.62C>T	c.(61-63)gCt>gTt	p.A21V	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Missense_Mutation_p.A18V|KPNA6_ENST00000545542.1_Missense_Mutation_p.A26V	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	21	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAGAACAATGCTCTAAACCCT	0.443000													12	31					0	0	0.001855	0	0
SUPT20H	55578	broad.mit.edu	37	13	37618230	37618230	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:37618230G>A	ENST00000360252.4	-	7	631	c.384C>T	c.(382-384)ctC>ctT	p.L128L	SUPT20H_ENST00000542180.1_Silent_p.L115L|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000350612.6_Silent_p.L127L|SUPT20H_ENST00000475892.1_Silent_p.L127L|SUPT20H_ENST00000356185.3_Silent_p.L128L|SUPT20H_ENST00000464744.1_Silent_p.L128L	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		ATTTTTCTAGGAGATCAACCA	0.289000													21	40					0	0	0.002780	0	0
ATP10B	23120	broad.mit.edu	37	5	160049461	160049461	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:160049461G>A	ENST00000327245.5	-	14	2598	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	584					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAAGGCAAGGAAGAAATCAG	0.572000													10	28					0	0	0.006214	0	0
HELQ	113510	broad.mit.edu	37	4	84339276	84339276	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:84339276G>A	ENST00000295488.3	-	16	3195	c.3033C>T	c.(3031-3033)atC>atT	p.I1011I	HELQ_ENST00000510985.1_Silent_p.I944I	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	1011							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CCATGAGAGGGATTAATTCTG	0.378000								Other identified genes with known or suspected DNA repair function					75	159					0	0	0.003610	0	0
TANC1	85461	broad.mit.edu	37	2	160087160	160087160	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:160087160C>T	ENST00000263635.6	+	27	5460	c.5223C>T	c.(5221-5223)agC>agT	p.S1741S	TANC1_ENST00000454300.1_Silent_p.S1635S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1741						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATCCTCCAAGCCGCAGCTGGC	0.582000													29	75					0	0	0.002096	0	0
VN1R2	317701	broad.mit.edu	37	19	53762278	53762278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:53762278G>A	ENST00000341702.3	+	1	734	c.650G>A	c.(649-651)tGg>tAg	p.W217*		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	217					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATCCTGTGCTGGGCCTTCCAC	0.443000													19	30					0	0	0.007413	0	0
NPAS3	64067	broad.mit.edu	37	14	34270029	34270029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:34270029C>T	ENST00000346562.2	+	11	2494	c.2420C>T	c.(2419-2421)gCc>gTc	p.A807V	NPAS3_ENST00000548645.1_Missense_Mutation_p.A809V|NPAS3_ENST00000551492.1_Missense_Mutation_p.A844V|NPAS3_ENST00000356141.4_Missense_Mutation_p.A839V|NPAS3_ENST00000357798.5_Missense_Mutation_p.A826V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTGACCCTGGCCATGCAGAGC	0.677000													5	8					0	0	0.000602	0	0
BACH1	571	broad.mit.edu	37	21	30698862	30698862	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:30698862C>T	ENST00000399921.1	+	3	960	c.717C>T	c.(715-717)gtC>gtT	p.V239V	BACH1_ENST00000286800.3_Silent_p.V239V	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	239						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CTGACAGAGTCCGTACTGGGG	0.448000													30	21					0	0	0.006320	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110468544	110468544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:110468544G>A	ENST00000378402.5	+	46	7032	c.6928G>A	c.(6928-6930)Gaa>Aaa	p.E2310K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2310					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAAGGCAGGGGAAAGAATTTT	0.413000										HNSCC(38;0.096)			11	21					0	0	0.008291	0	0
C7	730	broad.mit.edu	37	5	40950039	40950039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:40950039C>T	ENST00000313164.9	+	9	1375	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	339	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAATGTAAATCCTCAGGTTGG	0.348000													13	13					0	0	0.002450	0	0
SLC2A9	56606	broad.mit.edu	37	4	9828100	9828100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:9828100G>A	ENST00000506583.1	-	14	1674	c.1457C>T	c.(1456-1458)tCc>tTc	p.S486F	SLC2A9_ENST00000264784.3_Missense_Mutation_p.S515F|SLC2A9_ENST00000309065.3_Missense_Mutation_p.S486F			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	515					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GTTCCTTTTGGAAAATGCCTG	0.428000													50	92					0	0	0.003610	0	0
PCDH17	27253	broad.mit.edu	37	13	58207291	58207291	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:58207291A>G	ENST00000377918.3	+	1	637	c.611A>G	c.(610-612)gAg>gGg	p.E204G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	204	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGGACCGCGAGCAACAGAAT	0.602000													12	27					0	0	0.002450	0	0
KCTD6	200845	broad.mit.edu	37	3	58486760	58486760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:58486760G>A	ENST00000355076.6	+	2	1098	c.115G>A	c.(115-117)Gga>Aga	p.G39R	KCTD6_ENST00000490264.1_Missense_Mutation_p.G39R|KCTD6_ENST00000404589.3_Missense_Mutation_p.G39R|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	39	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TTCCATGCTTGGAGCTATGTT	0.458000													36	117					0	0	0.006230	0	0
DARC	2532	broad.mit.edu	37	1	159176032	159176032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:159176032C>T	ENST00000537147.1	+	3	1646	c.803C>T	c.(802-804)tCc>tTc	p.S268F	DARC_ENST00000368122.2_Missense_Mutation_p.S268F|DARC_ENST00000368121.2_Missense_Mutation_p.S270F			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	268					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTGGTGAGGTCCAAGCTGTTG	0.567000													68	111					0	0	0.003610	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013082	73013082	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:73013082C>T	ENST00000308744.6	+	4	1220	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.I272I|NPFFR2_ENST00000395999.1_Silent_p.I275I	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	374					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGCAGAAGATCATTAAGATGC	0.498000													17	47					0	0	0.004007	0	0
OR5H2	79310	broad.mit.edu	37	3	98001872	98001872	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:98001872C>T	ENST00000355273.2	+	1	141	c.141C>T	c.(139-141)aaC>aaT	p.N47N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTGTGTGGAACCTTGGTCTGA	0.428000													99	96					0	0	0.003610	0	0
SCGN	10590	broad.mit.edu	37	6	25665236	25665236	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:25665236G>A	ENST00000377961.2	+	4	480	c.312G>A	c.(310-312)ctG>ctA	p.L104L	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	104						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AAAACCCACTGGACAGCAGCG	0.488000													18	53					0	0	0.007413	0	0
AADACL4	343066	broad.mit.edu	37	1	12704613	12704613	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:12704613C>T	ENST00000376221.1	+	1	48	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	16						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCATCTTTTTCCTGGGGGTCT	0.532000													57	112					0	0	0.003610	0	0
SRGAP3	9901	broad.mit.edu	37	3	9166511	9166511	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:9166511A>G	ENST00000383836.3	-	2	585	c.158T>C	c.(157-159)tTc>tCc	p.F53S	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.F53S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	53	FCH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTTCCGGCGGAAAAACTCCTG	0.592000			T	RAF1	pilocytic astrocytoma								22	45					0	0	0.001882	0	0
CSMD1	64478	broad.mit.edu	37	8	2876151	2876151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:2876151G>A	ENST00000602557.1	-	53	8435	c.7880C>T	c.(7879-7881)tCc>tTc	p.S2627F	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2626F|CSMD1_ENST00000520002.1_Missense_Mutation_p.S2627F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2627	Sushi 17.					integral to membrane		p.S2355F(1)|p.S2626F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGGGGAAAGGAAAGGCTTCC	0.423000													44	78					0	0	0.002852	0	0
ALOX15	246	broad.mit.edu	37	17	4540538	4540538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:4540538C>T	ENST00000570836.1	-	8	919	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ALOX15_ENST00000293761.3_Missense_Mutation_p.E275K|ALOX15_ENST00000574640.1_Missense_Mutation_p.E236K|ALOX15_ENST00000545513.1_Missense_Mutation_p.E297K			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	275	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AAGTCAGCTTCGAACAGTGTG	0.547000													18	13					0	0	0.001523	0	0
CDH23	64072	broad.mit.edu	37	10	73405631	73405631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:73405631C>T	ENST00000224721.6	+	12	1204	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	CDH23_ENST00000398842.3_Missense_Mutation_p.S395F|CDH23_ENST00000299366.7_Missense_Mutation_p.S440F|CDH23_ENST00000398809.4_Missense_Mutation_p.S395F|CDH23_ENST00000461841.3_Missense_Mutation_p.S440F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	395	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGAACAACTCCCACCACTTC	0.582000													18	15					0	0	0.001523	0	0
NFASC	23114	broad.mit.edu	37	1	204966398	204966398	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:204966398C>T	ENST00000367172.4	+	27	3532	c.3204C>T	c.(3202-3204)ccC>ccT	p.P1068P	NFASC_ENST00000367171.4_Silent_p.P1053P|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000401399.1_Silent_p.P961P|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Silent_p.P1068P|NFASC_ENST00000339876.6_Silent_p.P961P			O94856	NFASC_HUMAN	neurofascin	1068	Thr-rich.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAACAGTCCCCATCATCCCAA	0.627000													6	12					0	0	0.001168	0	0
MYPN	84665	broad.mit.edu	37	10	69966578	69966578	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:69966578G>A	ENST00000358913.5	+	19	4199	c.3711G>A	c.(3709-3711)aaG>aaA	p.K1237K	MYPN_ENST00000354393.2_Silent_p.K962K|MYPN_ENST00000540630.1_Silent_p.K1237K	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1237	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGCCAGCCAAGAAATCAGACG	0.478000													23	93					0	0	0.003954	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250440	140250440	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140250440G>A	ENST00000398640.2	+	1	1752	c.1752G>A	c.(1750-1752)gtG>gtA	p.V584V	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTCGGTGGGTGCGGGCC	0.667000													24	98					0	0	0.003954	0	0
TRPV4	59341	broad.mit.edu	37	12	110238505	110238505	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:110238505G>A	ENST00000418703.2	-	4	865	c.771C>T	c.(769-771)ctC>ctT	p.L257L	TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000536838.1_Silent_p.L223L|TRPV4_ENST00000537083.1_Silent_p.L257L|TRPV4_ENST00000261740.2_Silent_p.L257L|TRPV4_ENST00000346520.2_Silent_p.L257L|TRPV4_ENST00000392719.2_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	257					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTGGGCCACGAGAAGTTCCA	0.637000													25	33					0	0	0.005443	0	0
PKD1L2	114780	broad.mit.edu	37	16	81145869	81145869	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:81145869G>A	ENST00000534142.1	-	0	1270				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTCATTTTGGGATTCAACCTG	0.537000													28	97					0	0	0.007291	0	0
OR7D4	125958	broad.mit.edu	37	19	9324872	9324872	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9324872G>A	ENST00000308682.2	-	1	670	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGAGAAGAGGATCCCAGCTA	0.527000													35	71					0	0	0.004289	0	0
ETF1	2107	broad.mit.edu	37	5	137844008	137844008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:137844008G>A	ENST00000499810.2	-	11	1649	c.1201C>T	c.(1201-1203)Ctt>Ttt	p.L401F	ETF1_ENST00000360541.5_Missense_Mutation_p.L434F|ETF1_ENST00000503014.1_Missense_Mutation_p.L420F			P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	434					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAGTCATCAAGGTCAAAAAAT	0.483000													13	16					0	0	0.002450	0	0
KCNK13	56659	broad.mit.edu	37	14	90651002	90651002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:90651002G>A	ENST00000282146.4	+	2	1323	c.882G>A	c.(880-882)atG>atA	p.M294I		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	294						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGAGGAAAATGGACAGCGGGT	0.532000													35	71					0	0	0.002836	0	0
ENPEP	2028	broad.mit.edu	37	4	111398065	111398065	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:111398065G>A	ENST00000265162.5	+	1	837	c.495G>A	c.(493-495)aaG>aaA	p.K165K		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	165					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGTACAAAAAGCAGGAGTACG	0.622000													71	124					0	0	0.003610	0	0
SRY	6736	broad.mit.edu	37	Y	2655550	2655550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrY:2655550G>A	ENST00000383070.1	-	1	190	c.95C>T	c.(94-96)tCt>tTt	p.S32F	SRY_ENST00000534739.2_Missense_Mutation_p.S32F|SRY_ENST00000525526.2_Missense_Mutation_p.S32F	NM_003140.2	NP_003131.1	Q05066	SRY_HUMAN	sex determining region Y	32					cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation	cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(1)|prostate(1)	2						AAGGAAGGAAGAGCTTCTCCG	0.448000									Swyer syndrome				32	15					0	0	0.002096	0	0
PAK7	57144	broad.mit.edu	37	20	9546725	9546725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:9546725G>A	ENST00000378429.3	-	6	1843	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	PAK7_ENST00000378423.1_Missense_Mutation_p.R433W|PAK7_ENST00000353224.5_Missense_Mutation_p.R433W	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	433	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGGCCGCCCGAAACTGTTCA	0.627000													33	52					0	0	0.002096	0	0
MYO5B	4645	broad.mit.edu	37	18	47352939	47352939	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:47352939T>G	ENST00000285039.7	-	40	5748	c.5449A>C	c.(5449-5451)Atg>Ctg	p.M1817L	RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.M140L|MYO5B_ENST00000324581.6_Missense_Mutation_p.M932L|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.M387L	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1817					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACAGGAAACATGTGCTTGGCA	0.423000													26	37					0	0	0.004656	0	0
AIFM2	84883	broad.mit.edu	37	10	71880960	71880960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:71880960G>A	ENST00000307864.1	-	4	515	c.302C>T	c.(301-303)cCc>cTc	p.P101L	AIFM2_ENST00000373248.1_Missense_Mutation_p.P101L	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	101					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ATGAGAGAAGGGCAGGGCCTG	0.532000													7	29					0	0	0.004482	0	0
ADPRM	56985	broad.mit.edu	37	17	10608567	10608567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10608567G>A	ENST00000379774.4	+	2	415	c.324G>A	c.(322-324)tgG>tgA	p.W108*	ADPRM_ENST00000527582.2_Nonsense_Mutation_p.W108*	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		ATCATACATGGGGAAACCATG	0.358000													30	18					0	0	0.008361	0	0
MYOF	26509	broad.mit.edu	37	10	95191274	95191274	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:95191274C>T	ENST00000371501.4	-	4	359		c.e4-1		MYOF_ENST00000359263.4_Splice_Site|MYOF_ENST00000371489.1_Splice_Site|MYOF_ENST00000371502.4_Splice_Site|MYOF_ENST00000371488.3_Splice_Site|MYOF_ENST00000358334.5_Splice_Site			Q9NZM1	MYOF_HUMAN	myoferlin						blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCAATTAATCTGCAGGGAAA	0.493000													10	25					0	0	0.008291	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374817	8374817	+	Silent	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:8374817T>C	ENST00000538603.1	-	7	1554	c.996A>G	c.(994-996)caA>caG	p.Q332Q	FAM90A1_ENST00000307435.6_Silent_p.Q332Q	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	332							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CTGGCGGAGGTTGGAGATTCT	0.652000													5	14					0	0	0.000602	0	0
FSHR	2492	broad.mit.edu	37	2	49381423	49381423	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:49381423G>T	ENST00000406846.2	-	1	253	c.134C>A	c.(133-135)cCg>cAg	p.P45Q	FSHR_ENST00000304421.4_Missense_Mutation_p.P45Q|FSHR_ENST00000346173.3_Missense_Mutation_p.P45Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	45	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGCATTCCTCGGGAGGTCAGA	0.473000									Gonadal Dysgenesis, 46 XX				9	43					6.42651e-13	7.16212e-13	0.000978	1	0
PTPRJ	5795	broad.mit.edu	37	11	48149502	48149502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:48149502C>T	ENST00000418331.2	+	7	1616	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	PTPRJ_ENST00000440289.2_Missense_Mutation_p.P422S	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	422	Fibronectin type-III 4.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CGCTGTCATCCCCGGACTCCG	0.552000													34	59					0	0	0.003755	0	0
CCNK	8812	broad.mit.edu	37	14	99959863	99959863	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:99959863C>T	ENST00000389879.5	+	3	333	c.210C>T	c.(208-210)acC>acT	p.T70T	CCNK_ENST00000555049.1_Silent_p.T70T|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	70					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACTATGATACCCTGGCAACTG	0.313000													19	37					0	0	0.007413	0	0
NRG1	3084	broad.mit.edu	37	8	31498200	31498200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:31498200C>T	ENST00000520407.1	+	1	930	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGAGACGGGCCGGAACCTCAA	0.692000													13	10					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9048764	9048764	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9048764A>G	ENST00000397910.4	-	5	33070	c.32867T>C	c.(32866-32868)cTt>cCt	p.L10956P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10958	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						TGGTTCACCAAGAGAAAAAGT	0.498000													15	85					0	0	0.003163	0	0
ARAP2	116984	broad.mit.edu	37	4	36162209	36162209	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:36162209G>A	ENST00000303965.4	-	13	2803	c.2314C>T	c.(2314-2316)Caa>Taa	p.Q772*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	772	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCATCCTTTTGAAGATTACCA	0.294000													4	26					0	0	0.001168	0	0
GUCY2D	3000	broad.mit.edu	37	17	7915885	7915885	+	Missense_Mutation	SNP	G	G	A	rs61750163		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:7915885G>A	ENST00000254854.4	+	10	2224	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	692	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GAGACTGCTGGAAGCACAGAA	0.592000													39	26					0	0	0.002522	0	0
APOB	338	broad.mit.edu	37	2	21249786	21249786	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:21249786C>T	ENST00000233242.1	-	15	2245	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G	APOB_ENST00000399256.4_Silent_p.G706G	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	706					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)	ATCCTTGCTTCCCAAAAAGAG	0.418000													75	263					0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487398	110487398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:110487398G>A	ENST00000378402.5	+	51	8761	c.8657G>A	c.(8656-8658)tGg>tAg	p.W2886*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2886					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGTCTGGATGGATGGCTCTG	0.348000										HNSCC(38;0.096)			24	50					0	0	0.004656	0	0
TUBB3	10381	broad.mit.edu	37	16	90001540	90001540	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:90001540C>T	ENST00000304984.5	+	3	2760	c.465C>T	c.(463-465)caC>caT	p.H155H	TUBB3_ENST00000315491.7_Silent_p.H227H|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Silent_p.H574H|TUBB3_ENST00000554444.1_Silent_p.H155H			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	227					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		ACCTCAACCACCTGGTATCGG	0.627000													9	43					0	0	0.004482	0	0
GABBR2	9568	broad.mit.edu	37	9	101056148	101056148	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:101056148T>A	ENST00000259455.2	-	18	3038	c.2579A>T	c.(2578-2580)cAa>cTa	p.Q860L		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	860					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTGGGGATTTTGATCGAGGTG	0.383000													46	30					0	0	0.003610	0	0
DOCK3	1795	broad.mit.edu	37	3	51393867	51393867	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:51393867C>T	ENST00000266037.9	+	43	4469	c.4446C>T	c.(4444-4446)acC>acT	p.T1482T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1482	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCACACTGACCCTGACCCACA	0.542000													29	93					0	0	0.002445	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110406674	110406674	+	Silent	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:110406674T>C	ENST00000378402.5	+	10	875	c.771T>C	c.(769-771)gtT>gtC	p.V257V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	257					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATATTTTGTTTCTTCTCTCA	0.318000										HNSCC(38;0.096)			4	2					0	0	0.000602	0	0
IGSF22	283284	broad.mit.edu	37	11	18739491	18739491	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:18739491C>T	ENST00000513874.1	-	9	1099	c.960G>A	c.(958-960)gaG>gaA	p.E320E	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	320	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCACTGTGAGCTCTGCACTCA	0.547000													14	70					0	0	0.004007	0	0
A2ML1	144568	broad.mit.edu	37	12	9013789	9013789	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:9013789A>G	ENST00000299698.7	+	28	3578	c.3398A>G	c.(3397-3399)aAc>aGc	p.N1133S	A2ML1_ENST00000539547.1_Missense_Mutation_p.N642S	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	977						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCCACGACCAACCTCTACACA	0.458000													34	72					0	0	0.002836	0	0
DNAH8	1769	broad.mit.edu	37	6	38749036	38749036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:38749036C>T	ENST00000359357.3	+	14	1749	c.1495C>T	c.(1495-1497)Cat>Tat	p.H499Y	DNAH8_ENST00000449981.2_Missense_Mutation_p.H716Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.H499Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGCTTTATCATTCTCAGAA	0.378000													21	39					0	0	0.003330	0	0
WDR62	284403	broad.mit.edu	37	19	36575559	36575559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:36575559C>T	ENST00000401500.2	+	12	1590	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	WDR62_ENST00000270301.7_Missense_Mutation_p.H519Y	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	519					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCCAGGATCCACGAGCTGCA	0.607000													32	46					0	0	0.003271	0	0
HCN1	348980	broad.mit.edu	37	5	45262407	45262407	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:45262407C>T	ENST00000303230.4	-	8	2346	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	763						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652000													9	43					0	0	0.004482	0	0
ITPR2	3709	broad.mit.edu	37	12	26749938	26749938	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:26749938G>A	ENST00000381340.3	-	31	4548	c.4132C>T	c.(4132-4134)Ctg>Ttg	p.L1378L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1378					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AACTCCACCAGGGTGATGTGG	0.488000													38	74					0	0	0.004878	0	0
ACTR1A	10121	broad.mit.edu	37	10	104248026	104248026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:104248026G>A	ENST00000369905.4	-	4	259	c.196C>T	c.(196-198)Cga>Tga	p.R66*	ACTR1A_ENST00000487599.1_Nonsense_Mutation_p.R66*|ACTR1A_ENST00000545684.1_5'UTR|ACTR1A_ENST00000446605.2_Nonsense_Mutation_p.R19*	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	66					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AGCAGCCCTCGGTGCTCCTGG	0.517000													10	52					0	0	0.008291	0	0
EPHA6	285220	broad.mit.edu	37	3	96706570	96706570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:96706570C>T	ENST00000389672.5	+	3	885	c.847C>T	c.(847-849)Caa>Taa	p.Q283*	EPHA6_ENST00000542517.1_Nonsense_Mutation_p.Q189*|EPHA6_ENST00000470610.2_Nonsense_Mutation_p.Q283*	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	188						integral to plasma membrane	ATP binding|ephrin receptor activity	p.Q189E(4)|p.Q283E(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGGCTTTTCAAGACATTGG	0.458000													9	238					0	0	0.006214	0	0
PRKG2	5593	broad.mit.edu	37	4	82125919	82125919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:82125919G>A	ENST00000395578.1	-	2	399	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	PRKG2_ENST00000418486.2_Nonsense_Mutation_p.Q95*|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.Q95*			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	95					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						GGAGAGGCCTGAAGCGGGCTT	0.562000													51	108					0	0	0.003610	0	0
TGM6	343641	broad.mit.edu	37	20	2378637	2378637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:2378637C>T	ENST00000202625.2	+	5	678	c.617C>T	c.(616-618)aCc>aTc	p.T206I	TGM6_ENST00000381423.1_Missense_Mutation_p.T206I|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	206					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AACCCAGCCACCGACGTGTCC	0.577000													15	40					0	0	0.004007	0	0
NSD1	64324	broad.mit.edu	37	5	176696747	176696747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:176696747G>A	ENST00000439151.2	+	16	5493	c.5448G>A	c.(5446-5448)atG>atA	p.M1816I	NSD1_ENST00000361032.4_Missense_Mutation_p.M1713I|NSD1_ENST00000354179.4_Missense_Mutation_p.M1547I|NSD1_ENST00000347982.4_Missense_Mutation_p.M1547I	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1816	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCCCTTACATGGAGGGTGACG	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	71					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179472736	179472736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179472736G>A	ENST00000589042.1	-	276	53002	c.52778C>T	c.(52777-52779)cCa>cTa	p.P17593L	TTN_ENST00000359218.5_Missense_Mutation_p.P8653L|TTN_ENST00000342175.6_Missense_Mutation_p.P8720L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P15952L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15025L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8528L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15952	Fibronectin type-III 27.						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)			ATTGAAAGCTGGGGGTTCCCA	0.448000													10	28					0	0	0.006214	0	0
C17orf97	400566	broad.mit.edu	37	17	263446	263446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:263446C>T	ENST00000360127.6	+	2	828	c.812C>T	c.(811-813)gCc>gTc	p.A271V	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	301	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GACCCTGAGGCCCTCAAGGGT	0.687000													14	6					0	0	0.001855	0	0
PEG3	5178	broad.mit.edu	37	19	57326059	57326059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57326059C>T	ENST00000326441.9	-	10	4114	c.3751G>A	c.(3751-3753)Gat>Aat	p.D1251N	PEG3_ENST00000593695.1_Missense_Mutation_p.D1125N|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1251N|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D1127N|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1251					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCAGTAAATCATCTTCCCTA	0.483000													9	28					0	0	0.004482	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506099	178506099	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:178506099G>A	ENST00000315475.6	+	5	972	c.666G>A	c.(664-666)ggG>ggA	p.G222G		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ATGAATGTGGGAAGAGCTTCA	0.363000													12	30					0	0	0.000978	0	0
BPI	671	broad.mit.edu	37	20	36954783	36954783	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:36954783C>T	ENST00000262865.4	+	10	1211	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	374					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ATGTCCAGGCCTTTGCCGTCC	0.592000													11	20					0	0	0.001855	0	0
ZNF600	162966	broad.mit.edu	37	19	53269038	53269038	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:53269038C>T	ENST00000338230.3	-	3	2238	c.1971G>A	c.(1969-1971)agG>agA	p.R657R		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GATGAATTCTCCTATGTCTTT	0.378000													39	64					0	0	0.006230	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460385	32460385	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:32460385G>A	ENST00000395900.1	+	0	1263				WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA	NR_023920.1															endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						cgtccagttggaggttttacc	0.498000													13	10					0	0	0.001368	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997311	19997311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:19997311G>A	ENST00000391403.2	-	1	567	c.464C>T	c.(463-465)tCa>tTa	p.S155L		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	155						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGCTACTTGTGATTTGAGGGA	0.353000													29	117					0	0	0.008361	0	0
ZNF142	7701	broad.mit.edu	37	2	219509210	219509210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219509210C>T	ENST00000411696.2	-	7	2808	c.2029G>A	c.(2029-2031)Ggt>Agt	p.G677S	ZNF142_ENST00000449707.1_Missense_Mutation_p.G677S			P52746	ZN142_HUMAN	zinc finger protein 142	677					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCAGGTCACCCCCATGGGGA	0.637000													19	34					0	0	0.001523	0	0
SGMS1	259230	broad.mit.edu	37	10	52071083	52071083	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:52071083C>T	ENST00000361781.2	-	9	1793	c.834G>A	c.(832-834)ggG>ggA	p.G278G	SGMS1_ENST00000429490.1_Silent_p.G109G	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	284					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ACAGATAGTCCCCACACATGT	0.463000													12	34					0	0	0.000978	0	0
C1orf116	79098	broad.mit.edu	37	1	207196511	207196511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:207196511G>A	ENST00000359470.5	-	4	847	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	200						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCTTCTGGCGGAGGGATGAGC	0.657000													57	101					0	0	0.003610	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128626	68128626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:68128626G>A	ENST00000585558.1	+	4	891	c.503G>A	c.(502-504)gGa>gAa	p.G168E	KCNJ16_ENST00000586462.1_Missense_Mutation_p.G172E|KCNJ16_ENST00000283936.1_Missense_Mutation_p.G133E|KCNJ16_ENST00000392671.1_Missense_Mutation_p.G133E|KCNJ16_ENST00000589377.1_Missense_Mutation_p.G133E|KCNJ16_ENST00000392670.1_Missense_Mutation_p.G133E			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	133					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACCACCATAGGATATGGTTAT	0.438000													24	30					0	0	0.002299	0	0
NEBL	10529	broad.mit.edu	37	10	21185941	21185941	+	Silent	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:21185941A>C	ENST00000377122.4	-	2	495	c.99T>G	c.(97-99)gtT>gtG	p.V33V	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Silent_p.V33V|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	33					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGTCTTCAATAACAGGCTTAT	0.363000													67	104					0	0	0.003610	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712479	187712479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:187712479G>A	ENST00000295131.2	-	2	248	c.209C>T	c.(208-210)cCg>cTg	p.P70L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	70					apoptosis		zinc ion binding	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCTCCTTTCGGAAATGTGGA	0.348000													29	55					0	0	0.002836	0	0
GOLGA1	2800	broad.mit.edu	37	9	127650642	127650642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:127650642G>A	ENST00000373555.4	-	19	2128	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	599						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GTTGGAAGCTGGAACACAGGG	0.547000													64	43					0	0	0.003610	0	0
NPAS2	4862	broad.mit.edu	37	2	101598751	101598751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:101598751G>A	ENST00000335681.5	+	16	1826	c.1541G>A	c.(1540-1542)cGg>cAg	p.R514Q	NPAS2_ENST00000542504.1_Missense_Mutation_p.R579Q	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	514					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGCGGACGCGGATCCTGCAG	0.532000													19	16					0	0	0.008871	0	0
OR8H3	390152	broad.mit.edu	37	11	55889898	55889898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:55889898G>A	ENST00000313472.3	+	1	50	c.50G>A	c.(49-51)gGa>gAa	p.G17E		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATCCTTACGGGACTGTCAGAC	0.443000													41	56					0	0	0.007835	0	0
EYS	346007	broad.mit.edu	37	6	66044969	66044969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:66044969C>T	ENST00000503581.1	-	11	2207	c.1670G>A	c.(1669-1671)aGa>aAa	p.R557K	EYS_ENST00000393380.2_Missense_Mutation_p.R557K|EYS_ENST00000342421.5_Missense_Mutation_p.R557K|EYS_ENST00000370616.2_Missense_Mutation_p.R557K|EYS_ENST00000370618.3_Missense_Mutation_p.R557K|EYS_ENST00000370621.3_Missense_Mutation_p.R557K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	557					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCCAGCCCATCTGAGAAAACA	0.353000													24	38					0	0	0.003954	0	0
SPERT	220082	broad.mit.edu	37	13	46287917	46287917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:46287917G>A	ENST00000378966.3	+	2	1065	c.649G>A	c.(649-651)Gag>Aag	p.E217K	SPERT_ENST00000310521.1_Missense_Mutation_p.E253K			Q8NA61	SPERT_HUMAN	spermatid associated	253						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCTCCGGGAGGAGAATCGCGC	0.682000													5	10					0	0	0.000602	0	0
IGLV4-60	28785	broad.mit.edu	37	22	22517004	22517004	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:22517004C>T	ENST00000390284.2	+	0	292																											TGACCGCTACCTCACCATCTC	0.532000													5	22					0	0	0.001984	0	0
SLC5A7	60482	broad.mit.edu	37	2	108618400	108618400	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:108618400C>T	ENST00000264047.2	+	6	921	c.645C>T	c.(643-645)atC>atT	p.I215I	SLC5A7_ENST00000409059.1_Silent_p.I215I|SLC5A7_ENST00000540517.1_Silent_p.I110I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	215					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.I215I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCGCAGACATCGGGTTCACTG	0.488000													14	56					0	0	0.004990	0	0
OR56B4	196335	broad.mit.edu	37	11	6129062	6129062	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:6129062C>T	ENST00000316529.3	+	1	149	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCCCAGTTCATCCTGATGG	0.507000													27	50					0	0	0.005443	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699398	17699398	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:17699398A>T	ENST00000399080.2	-	1	308	c.285T>A	c.(283-285)agT>agA	p.S95R		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	95										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTGCTTCCCACTGACTGATT	0.448000													41	55					0	0	0.008740	0	0
SMARCA4	6597	broad.mit.edu	37	19	11097073	11097073	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11097073G>A	ENST00000358026.2	+	4	848	c.564G>A	c.(562-564)aaG>aaA	p.K188K	SMARCA4_ENST00000450717.3_Silent_p.K188K|SMARCA4_ENST00000429416.3_Silent_p.K188K|SMARCA4_ENST00000444061.3_Silent_p.K188K|SMARCA4_ENST00000344626.4_Silent_p.K188K|SMARCA4_ENST00000413806.3_Silent_p.K188K|SMARCA4_ENST00000541122.2_Silent_p.K188K|SMARCA4_ENST00000590574.1_Silent_p.K188K|SMARCA4_ENST00000589677.1_Silent_p.K188K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	188	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGGCCTACAAGATGCTGGCCA	0.652000			"""F, N, Mis"""		NSCLC								3	10					0	0	0.004672	0	0
ZNF486	90649	broad.mit.edu	37	19	20308159	20308159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:20308159G>A	ENST00000335117.8	+	4	697	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAAATGTGAAGAATGTGGCAA	0.373000													12	24					0	0	0.001855	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142119848	142119848	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:142119848C>T	ENST00000390377.1	-	0	318																											CGATACATGGCTGAGTCCCGC	0.562000													26	44					0	0	0.007291	0	0
AXIN1	8312	broad.mit.edu	37	16	396431	396431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:396431G>A	ENST00000262320.3	-	2	966	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.P199S	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	199	RGS.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGGAAGGAGGGATAGGTGTTT	0.507000											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	38	34					0	0	0.006230	0	0
BAGE2	85319	broad.mit.edu	37	21	11039314	11039314	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:11039314C>T	ENST00000470054.1	-	0	889									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTTTCTGTCACTTCCATTT	0.368000													15	318					0	0	0.001523	0	0
KLHL7	55975	broad.mit.edu	37	7	23164672	23164672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:23164672C>T	ENST00000322231.7	+	5	747	c.257C>T	c.(256-258)tCc>tTc	p.S86F	KLHL7_ENST00000539124.1_Missense_Mutation_p.S32F|KLHL7_ENST00000322275.5_Missense_Mutation_p.S108F|KLHL7_ENST00000545771.1_Missense_Mutation_p.S86F|KLHL7_ENST00000409689.1_Missense_Mutation_p.S60F|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000339077.4_Missense_Mutation_p.S108F|KLHL7_ENST00000545443.1_Missense_Mutation_p.S86F|KLHL7_ENST00000410047.1_Missense_Mutation_p.S86F|KLHL7_ENST00000542558.1_Intron			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	108	BTB.					Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGCAGAATTTCCGTGAATAGC	0.323000													20	31					0	0	0.001523	0	0
EVPL	2125	broad.mit.edu	37	17	74003610	74003610	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:74003610G>A	ENST00000301607.3	-	22	5929	c.5676C>T	c.(5674-5676)tcC>tcT	p.S1892S	EVPL_ENST00000586740.1_Silent_p.S1914S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1892	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCTCTGTGTGGAGGTGTTCT	0.652000													33	71					0	0	0.002836	0	0
GABRG1	2565	broad.mit.edu	37	4	46067417	46067417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:46067417C>T	ENST00000295452.4	-	4	673	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	169					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATTCCAAATTCGAAGCAGACG	0.323000													27	47					0	0	0.008361	0	0
ZNF668	79759	broad.mit.edu	37	16	31075148	31075148	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:31075148G>A	ENST00000538906.1	-	2	1417	c.633C>T	c.(631-633)ctC>ctT	p.L211L	ZNF668_ENST00000535577.1_Silent_p.L211L|ZNF668_ENST00000426488.2_Silent_p.L234L|ZNF668_ENST00000300849.4_Silent_p.L211L|ZNF668_ENST00000539836.3_Silent_p.L234L|ZNF668_ENST00000394983.2_Silent_p.L211L	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CATGGTTGCGGAGGTCCTTGA	0.662000													5	8					0	0	0.000602	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033111	52033111	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:52033111C>T	ENST00000346477.3	-	4	899	c.831G>A	c.(829-831)ctG>ctA	p.L277L	SIGLEC6_ENST00000391797.3_Silent_p.L282L|SIGLEC6_ENST00000343300.4_Silent_p.L293L|SIGLEC6_ENST00000359982.4_Silent_p.L304L|SIGLEC6_ENST00000425629.3_Silent_p.L293L|SIGLEC6_ENST00000436458.1_Silent_p.L241L	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	293	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGTGGCGTTCAGGGCGGGGA	0.642000													30	79					0	0	0.003271	0	0
LNP1	348801	broad.mit.edu	37	3	100170717	100170717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:100170717C>T	ENST00000383693.3	+	3	1591	c.311C>T	c.(310-312)tCc>tTc	p.S104F	LNP1_ENST00000489752.1_Missense_Mutation_p.S117F	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	104										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						AAAGGAAGATCCCATTCCAAA	0.433000													5	54					0	0	0.001168	0	0
ABT1	29777	broad.mit.edu	37	6	26598588	26598588	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:26598588C>T	ENST00000274849.1	+	3	565	c.534C>T	c.(532-534)gcC>gcT	p.A178A		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	178					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TTGCTCAAGCCAAGCGTGAGA	0.602000													33	41					0	0	0.001786	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895461	42895461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:42895461G>A	ENST00000399770.2	+	1	178	c.178G>A	c.(178-180)Gga>Aga	p.G60R		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	60					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGATTCCGATGGACAGCAGAA	0.498000													69	150					0	0	0.003610	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21548835	21548835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:21548835C>T	ENST00000298694.4	+	12	2517	c.2390C>T	c.(2389-2391)tCg>tTg	p.S797L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.S797L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	797					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CAGTGGCTCTCGGGCCCAGGG	0.632000													15	30					0	0	0.004007	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934887	9934887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:9934887G>A	ENST00000396573.2	-	7	1712	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	GRIN2A_ENST00000330684.3_Missense_Mutation_p.S468F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S468F|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S468F|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S311F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S468F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	468					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACAGTTCTGGAAAGCTTCTT	0.418000													20	47					0	0	0.008871	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542818	133542818	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:133542818C>T	ENST00000409261.1	-	14	1939	c.1566G>A	c.(1564-1566)ctG>ctA	p.L522L	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.L522L|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	522							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATGTGCCTTCCAGAAAGTGTT	0.498000													65	78					0	0	0.003610	0	0
C10orf118	55088	broad.mit.edu	37	10	115895958	115895958	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:115895958G>A	ENST00000369287.3	-	8	1640	c.1374C>T	c.(1372-1374)gtC>gtT	p.V458V	C10orf118_ENST00000543782.1_Silent_p.V56V	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	458										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTCCTTTTGTGACTCTAAGCT	0.328000													11	50					0	0	0.001855	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572455	140572455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140572455G>A	ENST00000239446.4	+	1	514	c.330G>A	c.(328-330)atG>atA	p.M110I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		110	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATTTTAATGGATGATCCCT	0.428000													8	33					0	0	0.008291	0	0
AE000661.37	0	broad.mit.edu	37	14	22925724	22925724	+	RNA	SNP	C	C	T	rs139871530	by1000genomes	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:22925724C>T	ENST00000514473.2	-	0	225				TRDJ2_ENST00000390475.1_RNA																							CACAACTCATCGTGGAACCAG	0.433000													92	153					0	0	0.003610	0	0
MEI1	150365	broad.mit.edu	37	22	42191744	42191744	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:42191744G>A	ENST00000401548.3	+	30	3712	c.3672G>A	c.(3670-3672)caG>caA	p.Q1224Q	MEI1_ENST00000400107.1_Silent_p.Q557Q|MEI1_ENST00000300398.4_Silent_p.Q188Q|MEI1_ENST00000476893.1_3'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1224							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCAGCTCCAGAGCATGGGAC	0.642000													13	29					0	0	0.001855	0	0
ADORA1	134	broad.mit.edu	37	1	203134560	203134560	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:203134560C>T	ENST00000367236.4	+	3	1434	c.513C>T	c.(511-513)ttC>ttT	p.F171F	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.F171F|ADORA1_ENST00000309502.3_Silent_p.F171F|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	171					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	AGTGCGAGTTCGAGAAGGTCA	0.572000													20	24					0	0	0.008871	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74649224	74649224	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:74649224A>C	ENST00000354431.4	-	2	336	c.145T>G	c.(145-147)Tgc>Ggc	p.C49G	LRRIQ3_ENST00000370909.2_Missense_Mutation_p.C49G|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.C49G|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.C49G	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	49										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						agagagatgcaagactgcaaa	0.303000													21	32					0	0	0.008871	0	0
RASSF9	9182	broad.mit.edu	37	12	86199585	86199585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:86199585C>T	ENST00000361228.3	-	2	571	c.203G>A	c.(202-204)cGa>cAa	p.R68Q		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	68	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAAGAAATCGTTTCTCTCC	0.483000													28	79					0	0	0.001786	0	0
MAEA	10296	broad.mit.edu	37	4	1305894	1305894	+	Missense_Mutation	SNP	C	C	T	rs112596236		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:1305894C>T	ENST00000303400.4	+	2	260	c.197C>T	c.(196-198)tCc>tTc	p.S66F	MAEA_ENST00000264750.6_Missense_Mutation_p.S66F|MAEA_ENST00000452175.2_Missense_Mutation_p.S55F|MAEA_ENST00000505839.1_Missense_Mutation_p.S18F|MAEA_ENST00000505177.2_Missense_Mutation_p.S66F|MAEA_ENST00000510794.1_Missense_Mutation_p.S65F|MAEA_ENST00000514708.1_Missense_Mutation_p.S66F	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	66	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GCCGTGGACTCCGTGGTCAGC	0.647000													18	30					0	0	0.008871	0	0
SNRNP48	154007	broad.mit.edu	37	6	7602873	7602873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:7602873C>T	ENST00000342415.5	+	6	672	c.613C>T	c.(613-615)Cca>Tca	p.P205S		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	205					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TCGAAAAAGTCCAAAATCCTA	0.303000													15	31					0	0	0.004007	0	0
ASXL1	171023	broad.mit.edu	37	20	31024661	31024661	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:31024661C>T	ENST00000375687.4	+	13	4570	c.4146C>T	c.(4144-4146)gcC>gcT	p.A1382A	ASXL1_ENST00000306058.5_Silent_p.A1377A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1382					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGGCAAATGCCGAGAACAGGA	0.527000			"""F, N, Mis"""		"""MDS, CMML"""								34	78					0	0	0.002836	0	0
CDH24	64403	broad.mit.edu	37	14	23524545	23524545	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:23524545G>A	ENST00000397359.3	-	3	478	c.219C>T	c.(217-219)gaC>gaT	p.D73D	CDH24_ENST00000554034.1_Silent_p.D73D|CDH24_ENST00000487137.2_Silent_p.D73D|CDH24_ENST00000267383.5_Silent_p.D73D	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	73	Cadherin 1.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCTCTCCCCGGTCAACATCCG	0.557000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	34					0	0	0.004007	0	0
SMARCD2	6603	broad.mit.edu	37	17	61910990	61910990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:61910990G>A	ENST00000448276.2	-	10	1539	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V	SMARCD2_ENST00000225742.9_Missense_Mutation_p.A350V|SMARCD2_ENST00000323347.10_Missense_Mutation_p.A377V	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	425					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GGTGGTAGAGGCCAGAAAATT	0.587000													45	69					0	0	0.002522	0	0
AP1M2	10053	broad.mit.edu	37	19	10685607	10685607	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:10685607G>A	ENST00000590923.1	-	10	1235	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	AP1M2_ENST00000250244.6_Silent_p.I382I			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	382	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TGAAGTAGGGGATCTCAAACT	0.612000													10	9					0	0	0.006214	0	0
DNAH2	146754	broad.mit.edu	37	17	7710628	7710628	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:7710628G>A	ENST00000572933.1	+	62	11063	c.9603G>A	c.(9601-9603)cgG>cgA	p.R3201R	DNAH2_ENST00000389173.2_Silent_p.R3201R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3201	Stalk (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)				TGTGGGTGCGGGCCATGGAGG	0.657000													43	33					0	0	0.003214	0	0
THEMIS	387357	broad.mit.edu	37	6	128150657	128150657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:128150657G>A	ENST00000368250.1	-	4	934	c.436C>T	c.(436-438)Ctc>Ttc	p.L146F	THEMIS_ENST00000543064.1_Missense_Mutation_p.L225F|THEMIS_ENST00000537166.1_Missense_Mutation_p.L190F|THEMIS_ENST00000368248.2_Missense_Mutation_p.L225F			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	225	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACAGGCTTGAGAATCAGGGTA	0.368000													23	53					0	0	0.003954	0	0
C6orf165	154313	broad.mit.edu	37	6	88123562	88123562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:88123562C>T	ENST00000507897.1	+	4	310	c.227C>T	c.(226-228)cCa>cTa	p.P76L	C6ORF165_ENST00000369562.4_Missense_Mutation_p.P76L			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	76										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTAAAAATCCATCCCTGGAC	0.318000													20	55					0	0	0.002780	0	0
KIF21B	23046	broad.mit.edu	37	1	200969865	200969865	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:200969865G>A	ENST00000332129.2	-	10	1762	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	KIF21B_ENST00000360529.5_Silent_p.I482I|KIF21B_ENST00000422435.2_Silent_p.I482I|KIF21B_ENST00000461742.2_Silent_p.I482I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	482					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGATCTCCCGGATGTAGTTCT	0.632000													23	44					0	0	0.002780	0	0
THEMIS	387357	broad.mit.edu	37	6	128176199	128176199	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:128176199A>G	ENST00000543064.1	-	2	374	c.226T>C	c.(226-228)Ttt>Ctt	p.F76L	THEMIS_ENST00000537166.1_Missense_Mutation_p.F41L|THEMIS_ENST00000368248.2_Missense_Mutation_p.F76L|THEMIS_ENST00000368250.1_5'UTR	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	76	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GGCAGTTCAAATGGCTGTAGA	0.328000													14	33					0	0	0.003163	0	0
NCOA6	23054	broad.mit.edu	37	20	33356387	33356387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:33356387C>T	ENST00000374796.2	-	6	2964	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	NCOA6_ENST00000359003.2_Missense_Mutation_p.E132K			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	132	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATAGCACCTTCCCCTGAAAAT	0.393000													28	75					0	0	0.008361	0	0
ITK	3702	broad.mit.edu	37	5	156635902	156635902	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:156635902G>A	ENST00000422843.3	+	2	293	c.141G>A	c.(139-141)aaG>aaA	p.K47K	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	47	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCCACAGAAGAAGCGCACGC	0.433000			T	SYK	peripheral T-cell lymphoma								67	111					0	0	0.003610	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818882	159818882	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:159818882G>A	ENST00000497452.1	-	0	517																											gggagaaaacggagaagagtt	0.458000													91	146					0	0	0.003610	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685807	108685807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:108685807C>T	ENST00000312143.7	-	3	1296	c.933G>A	c.(931-933)atG>atA	p.M311I	CMKLR1_ENST00000397688.2_Missense_Mutation_p.M309I|CMKLR1_ENST00000550402.1_Missense_Mutation_p.M311I|CMKLR1_ENST00000552995.1_Missense_Mutation_p.M309I|CMKLR1_ENST00000412676.1_Missense_Mutation_p.M311I	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	311					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GAATGGGGTTCATGCAGCTGT	0.542000													12	61					0	0	0.001855	0	0
ITGB3	3690	broad.mit.edu	37	17	45361894	45361894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:45361894C>T	ENST00000560629.1	+	4	412	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	ITGB3_ENST00000571680.1_Silent_p.S149S|ITGB3_ENST00000559488.1_Silent_p.S149S|ITGB3_ENST00000435993.2_Silent_p.S102S			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TGTCTTACTCCATGAAGGATG	0.517000													24	81					0	0	0.003330	0	0
WDR36	134430	broad.mit.edu	37	5	110428012	110428012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:110428012G>A	ENST00000506538.2	+	1	599	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	WDR36_ENST00000513710.2_Missense_Mutation_p.R9Q	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	9					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GGCAGTCTCCGGAAACGCGAT	0.587000													51	47					0	0	0.003610	0	0
NOVA1	4857	broad.mit.edu	37	14	26917426	26917426	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:26917426C>T	ENST00000539517.2	-	5	1580	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K	NOVA1_ENST00000465357.2_Silent_p.K397K|NOVA1_ENST00000267422.7_Silent_p.K299K	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	424					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CAACTACATCCTTGGATCCAT	0.468000													19	47					0	0	0.001523	0	0
FMN2	56776	broad.mit.edu	37	1	240370838	240370838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:240370838C>T	ENST00000319653.9	+	5	2956	c.2726C>T	c.(2725-2727)cCa>cTa	p.P909L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	909	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAAATGCTGCCACCCCCTCCC	0.657000													18	40					0	0	0.008871	0	0
DSCAM	1826	broad.mit.edu	37	21	41414529	41414529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:41414529C>T	ENST00000400454.1	-	32	5932	c.5455G>A	c.(5455-5457)Gaa>Aaa	p.E1819K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1819					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGGCGTGTTCGTAGGCCCTG	0.527000													31	23					0	0	0.007291	0	0
MGAM	8972	broad.mit.edu	37	7	141794620	141794620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:141794620C>T	ENST00000475668.2	+	63	7469	c.7415C>T	c.(7414-7416)gCc>gTc	p.A2472V	MGAM_ENST00000549489.2_Missense_Mutation_p.A1576V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1576					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGCTGGGGGCCTTTTACCCC	0.493000													21	45					0	0	0.003330	0	0
ITK	3702	broad.mit.edu	37	5	156636002	156636002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:156636002C>T	ENST00000422843.3	+	2	393	c.241C>T	c.(241-243)Cag>Tag	p.Q81*	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	81	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATACCCGTTTCAGGTAAGTCC	0.493000			T	SYK	peripheral T-cell lymphoma								85	97					0	0	0.003610	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47233948	47233948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:47233948G>A	ENST00000300404.2	+	5	720	c.661G>A	c.(661-663)Gat>Aat	p.D221N	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.D161N|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.D135N	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	221					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGAAGGACCCGATGCCCCCGT	0.562000													35	70					0	0	0.002852	0	0
RP1	6101	broad.mit.edu	37	8	55533846	55533846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:55533846C>T	ENST00000220676.1	+	2	468	c.320C>T	c.(319-321)tCc>tTc	p.S107F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	107	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCTATGTTCCCACGGCAGG	0.677000													28	53					0	0	0.001786	0	0
UGP2	7360	broad.mit.edu	37	2	64118353	64118353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:64118353G>A	ENST00000337130.5	+	10	1995	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N	UGP2_ENST00000394417.2_Missense_Mutation_p.D496N|UGP2_ENST00000445915.2_Missense_Mutation_p.D516N|UGP2_ENST00000467648.2_Missense_Mutation_p.D496N	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	507	Oligomerization (By similarity).				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TCGCATCTTGGACCACTGAAA	0.383000													14	26					0	0	0.001855	0	0
PGR	5241	broad.mit.edu	37	11	100999728	100999728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:100999728G>A	ENST00000325455.5	-	1	1527	c.74C>T	c.(73-75)tCc>tTc	p.S25F	PGR_ENST00000263463.5_Missense_Mutation_p.S25F|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	25	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CAGCAGTGGGGATCCGACCTC	0.672000													14	5					0	0	0.001855	0	0
PCGF2	7703	broad.mit.edu	37	17	36896591	36896591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:36896591C>T	ENST00000580830.1	-	4	766	c.65G>A	c.(64-66)gGg>gAg	p.G22E	PCGF2_ENST00000581345.1_Missense_Mutation_p.G22E|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000585100.1_Missense_Mutation_p.G22E|PCGF2_ENST00000579882.1_Missense_Mutation_p.G22E|PCGF2_ENST00000360797.2_Missense_Mutation_p.G22E			P35227	PCGF2_HUMAN	polycomb group ring finger 2	22					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GAAGTACCCCCCGCAGAGGGC	0.622000													32	88					0	0	0.005524	0	0
OSCAR	126014	broad.mit.edu	37	19	54598537	54598537	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:54598537G>A	ENST00000358375.4	-	5	786	c.741C>T	c.(739-741)gtC>gtT	p.V247V	OSCAR_ENST00000284648.6_3'UTR|OSCAR_ENST00000356532.3_Silent_p.V251V|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000351806.4_Silent_p.V236V	NM_133169.3	NP_573399.1	Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	0						extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					AGTCAAAAGTGACCAGCGCGC	0.682000													9	13					0	0	0.008291	0	0
SYCP2L	221711	broad.mit.edu	37	6	10930683	10930683	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:10930683G>A	ENST00000283141.6	+	19	1865	c.1569G>A	c.(1567-1569)caG>caA	p.Q523Q		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	523						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CCAGTAACCAGAAAAAGAAAT	0.348000													24	32					0	0	0.003330	0	0
ISX	91464	broad.mit.edu	37	22	35463124	35463124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:35463124G>A	ENST00000308700.6	+	1	996	c.44G>A	c.(43-45)aGa>aAa	p.R15K	ISX_ENST00000404699.2_Missense_Mutation_p.R15K|RP1-272J12.1_ENST00000448318.4_RNA	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GGTATGGAGAGAAATAGCTTG	0.592000													10	25					0	0	0.008291	0	0
DNAH8	1769	broad.mit.edu	37	6	38702293	38702293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:38702293G>A	ENST00000449981.2	+	5	763	c.654G>A	c.(652-654)atG>atA	p.M218I	DNAH8_ENST00000359357.3_Start_Codon_SNP_p.M1I|DNAH8_ENST00000441566.1_Start_Codon_SNP_p.M1I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGCAAAAATGATGAAATTGT	0.343000													50	91					0	0	0.003610	0	0
PLS3	5358	broad.mit.edu	37	X	114864164	114864164	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:114864164T>A	ENST00000420625.2	+	5	519	c.385T>A	c.(385-387)Ttt>Att	p.F129I	PLS3_ENST00000537301.1_Missense_Mutation_p.F107I|PLS3_ENST00000539310.1_Missense_Mutation_p.F84I|PLS3_ENST00000355899.3_Missense_Mutation_p.F129I|PLS3_ENST00000289290.3_Missense_Mutation_p.F84I	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	129	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						AAAATATGCTTTTGTTAACTG	0.318000													77	32					0	0	0.003610	0	0
ZNF574	64763	broad.mit.edu	37	19	42584105	42584105	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:42584105G>A	ENST00000600245.1	+	2	2002	c.1347G>A	c.(1345-1347)gaG>gaA	p.E449E	ZNF574_ENST00000222339.7_Silent_p.E539E|ZNF574_ENST00000359044.4_Silent_p.E449E|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	449	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGGCCCCTGAGCCCCCTGTGT	0.647000													22	55					0	0	0.002299	0	0
KIF26B	55083	broad.mit.edu	37	1	245530178	245530178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:245530178C>T	ENST00000407071.2	+	3	948	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	170					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACTCCAGGTCCCCAACACCAT	0.547000													9	20					0	0	0.006214	0	0
IGLV3-9	28804	broad.mit.edu	37	22	23162186	23162186	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:23162186C>T	ENST00000390316.2	+	0	394																											CCCTGACCATCAGCAGAGCCC	0.572000													16	36					0	0	0.003163	0	0
TDRKH	11022	broad.mit.edu	37	1	151755386	151755386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:151755386C>T	ENST00000368822.1	-	2	746	c.113G>A	c.(112-114)aGg>aAg	p.R38K	TDRKH_ENST00000368824.3_Missense_Mutation_p.R38K|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000458431.2_Missense_Mutation_p.R38K|TDRKH_ENST00000368827.6_Missense_Mutation_p.R38K|TDRKH_ENST00000368823.1_Missense_Mutation_p.R38K|TDRKH_ENST00000368825.3_Missense_Mutation_p.R38K			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	38							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTGCTTTCCCTATACCTGCG	0.473000													82	114					0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141607744	141607744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:141607744C>T	ENST00000389484.3	-	29	5837	c.4866G>A	c.(4864-4866)tgG>tgA	p.W1622*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1622					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAATATCTGTCCAGTATAAAC	0.353000										TSP Lung(27;0.18)			17	65					0	0	0.007413	0	0
ZNF441	126068	broad.mit.edu	37	19	11892195	11892195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:11892195G>A	ENST00000357901.4	+	4	1658	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	ZNF441_ENST00000454339.2_Missense_Mutation_p.R452Q	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTTCATTTCGAAGACATGAA	0.403000													14	18					0	0	0.003163	0	0
LCMT1	51451	broad.mit.edu	37	16	25182046	25182046	+	Silent	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:25182046C>A	ENST00000399069.3	+	9	959	c.804C>A	c.(802-804)ctC>ctA	p.L268L	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.L213L	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	268							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AAGAACGGCTCCTGTCGAATG	0.478000													43	56					2.24722e-20	2.51497e-20	0.003610	1	0
PAX7	5081	broad.mit.edu	37	1	19029590	19029590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:19029590G>A	ENST00000420770.2	+	7	1038	c.955G>A	c.(955-957)Ggg>Agg	p.G319R	PAX7_ENST00000375375.3_Missense_Mutation_p.G319R|PAX7_ENST00000400661.3_Missense_Mutation_p.G317R	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	319					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTCTACAGATGGGGGCAGCAC	0.657000			T	FOXO1A	alveolar rhabdomyosarcoma								7	30					0	0	0.004482	0	0
MMP24	10893	broad.mit.edu	37	20	33834663	33834663	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:33834663C>T	ENST00000246186.6	+	2	352	c.267C>T	c.(265-267)ggC>ggT	p.G89G	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	89					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGTCCTATGGCTATCTGCTTC	0.522000													44	75					0	0	0.003214	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113866	117113866	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:117113866G>A	ENST00000310357.3	-	6	2241	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	GPRC6A_ENST00000530250.1_Silent_p.I565I|GPRC6A_ENST00000368549.3_Silent_p.I669I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	740					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)		ACTCCAGGATGATGACTCTGG	0.483000													16	22					0	0	0.004007	0	0
ADAM28	10863	broad.mit.edu	37	8	24196978	24196978	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:24196978G>A	ENST00000265769.4	+	15	1677		c.e15-1		RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Splice_Site|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28						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)		CCTGGTCCCAGGAACTGAGGT	0.418000													7	13					0	0	0.003080	0	0
CACNA1E	777	broad.mit.edu	37	1	181767591	181767591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:181767591G>A	ENST00000526775.1	+	46	6542	c.6377G>A	c.(6376-6378)gGa>gAa	p.G2126E	CACNA1E_ENST00000358338.5_Missense_Mutation_p.G2077E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G2188E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1752E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G2139E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G2145E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G2169E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2188					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTGCTGATGGAAGCGAGGAG	0.637000													32	57					0	0	0.002096	0	0
RNF152	220441	broad.mit.edu	37	18	59483237	59483237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:59483237C>T	ENST00000312828.3	-	2	1559	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	154					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CTGTCCTGCTCCTCCTCCACC	0.652000													30	29					0	0	0.008361	0	0
CELSR1	9620	broad.mit.edu	37	22	46776758	46776758	+	Silent	SNP	G	G	A	rs142315389	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:46776758G>A	ENST00000262738.3	-	22	7182	c.7183C>T	c.(7183-7185)Ctg>Ttg	p.L2395L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2395					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AACTCCACCAGGACGGGCCTC	0.642000													17	47					0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9048058	9048058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9048058C>T	ENST00000397910.4	-	5	33776	c.33573G>A	c.(33571-33573)atG>atA	p.M11191I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11193	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						TGGCTGAAATCATCTTTGCCT	0.453000													20	22					0	0	0.007413	0	0
NAV1	89796	broad.mit.edu	37	1	201777203	201777203	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:201777203G>A	ENST00000367296.4	+	18	4191	c.3771G>A	c.(3769-3771)caG>caA	p.Q1257Q	NAV1_ENST00000367300.3_Silent_p.Q1197Q|NAV1_ENST00000367297.4_Silent_p.Q1249Q|NAV1_ENST00000367295.1_Silent_p.Q863Q|NAV1_ENST00000295624.6_Silent_p.Q1254Q|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Silent_p.Q1210Q	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1257					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCAAACTACAGCATGGTTCTA	0.537000													30	74					0	0	0.002096	0	0
MYH1	4619	broad.mit.edu	37	17	10399338	10399338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10399338C>T	ENST00000226207.5	-	35	5192	c.5098G>A	c.(5098-5100)Gag>Aag	p.E1700K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1700						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGCTCCTCTCTGTCTGTTCC	0.557000													23	20					0	0	0.003330	0	0
CD93	22918	broad.mit.edu	37	20	23064979	23064979	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:23064979C>T	ENST00000246006.4	-	1	1998	c.1851G>A	c.(1849-1851)aaG>aaA	p.K617K		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	617					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCTTCTTCTCCTTCTTCTCCT	0.597000													57	111					0	0	0.003610	0	0
DSG1	1828	broad.mit.edu	37	18	28916386	28916386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:28916386C>T	ENST00000257192.4	+	9	1287	c.1075C>T	c.(1075-1077)Cat>Tat	p.H359Y		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	359	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGAATTTCATCATTCAATTAT	0.343000													9	28					0	0	0.004482	0	0
PAPPA2	60676	broad.mit.edu	37	1	176809389	176809389	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:176809389C>T	ENST00000367662.3	+	22	6447	c.5283C>T	c.(5281-5283)tcC>tcT	p.S1761S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1761					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTGCTCTTCCACACTCTCCT	0.547000													41	59					0	0	0.002222	0	0
ATP7B	540	broad.mit.edu	37	13	52523879	52523879	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:52523879G>A	ENST00000242839.4	-	12	2940	c.2784C>T	c.(2782-2784)atC>atT	p.I928I	ATP7B_ENST00000448424.2_Silent_p.I850I|ATP7B_ENST00000400366.3_Silent_p.I817I|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000417240.2_Silent_p.I200I|ATP7B_ENST00000418097.2_Silent_p.I928I|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400370.3_Silent_p.I498I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	928					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACATGATGATGATAAATGGGA	0.403000									Wilson disease				30	69					0	0	0.003271	0	0
LMTK2	22853	broad.mit.edu	37	7	97822775	97822775	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:97822775C>T	ENST00000297293.5	+	11	3291	c.2998C>T	c.(2998-3000)Ctg>Ttg	p.L1000L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1000					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCGGACTCTCTGGAGTCAGT	0.597000													75	87					0	0	0.003610	0	0
KIAA1549	57670	broad.mit.edu	37	7	138596028	138596028	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:138596028G>A	ENST00000440172.1	-	4	3057	c.3009C>T	c.(3007-3009)tcC>tcT	p.S1003S	KIAA1549_ENST00000422774.1_Silent_p.S1003S|KIAA1549_ENST00000242365.4_Silent_p.S953S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1003						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CGAAAGGACCGGATGTTACCA	0.373000			O	BRAF	pilocytic astrocytoma								8	8					0	0	0.006214	0	0
USP10	9100	broad.mit.edu	37	16	84778852	84778852	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:84778852C>T	ENST00000219473.7	+	4	878	c.765C>T	c.(763-765)ttC>ttT	p.F255F	USP10_ENST00000570191.1_Silent_p.F259F	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	255					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGTCCTGCTTCCCTGCAGAGG	0.597000													10	10					0	0	0.008291	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375885	93375885	+	Silent	SNP	G	G	A	rs139132864	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:93375885G>A	ENST00000375765.3	-	2	613	c.225C>T	c.(223-225)tcC>tcT	p.S75S		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	75					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CTTTGGAGATGGACAGCCGCT	0.557000													35	34					0	0	0.003271	0	0
MUC15	143662	broad.mit.edu	37	11	26582728	26582728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:26582728C>T	ENST00000436318.2	-	4	1103	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	MUC15_ENST00000529533.1_Missense_Mutation_p.G324R|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G274R|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G297R|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.G274R			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	297						extracellular region|integral to membrane|plasma membrane		p.G297R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CTAGAATTCCCAAAACTCACA	0.378000													9	29					0	0	0.006214	0	0
GPC5	2262	broad.mit.edu	37	13	92101140	92101140	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:92101140A>G	ENST00000377067.3	+	2	661	c.289A>G	c.(289-291)Aag>Gag	p.K97E		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	97						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTCTACATTAAAGTTTCTAAT	0.428000													28	47					0	0	0.007291	0	0
PRDM7	11105	broad.mit.edu	37	16	90124943	90124943	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:90124943C>T	ENST00000407825.1	-	9	970		c.e9-1		PRDM7_ENST00000449207.2_Splice_Site|PRDM7_ENST00000325921.6_Splice_Site			Q9NQW5	PRDM7_HUMAN	PR domain containing 7							chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGCTTTGGTTCTGAAAGAGGA	0.408000													20	95					0	0	0.003954	0	0
TENM1	10178	broad.mit.edu	37	X	123654622	123654622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:123654622C>T	ENST00000422452.2	-	18	3109	c.3046G>A	c.(3046-3048)Gaa>Aaa	p.E1016K	TENM1_ENST00000371130.3_Missense_Mutation_p.E1016K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATGGGAATTTCCTCCTGTACA	0.443000													18	9					0	0	0.006122	0	0
ABCG5	64240	broad.mit.edu	37	2	44041707	44041707	+	Silent	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:44041707A>T	ENST00000543989.1	-	8	2191	c.486T>A	c.(484-486)atT>atA	p.I162I	ABCG5_ENST00000405322.1_Silent_p.I386I|ABCG5_ENST00000260645.1_Silent_p.I557I			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	557	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTTAAAAGGAATGGGCATTT	0.318000													47	228					0	0	0.003214	0	0
POT1	25913	broad.mit.edu	37	7	124481086	124481086	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:124481086T>G	ENST00000357628.3	-	14	1908	c.1310A>C	c.(1309-1311)cAt>cCt	p.H437P	POT1_ENST00000393329.1_Missense_Mutation_p.H306P	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	437					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTTCACAAAATGAACTGCTAC	0.318000													31	72					0	0	0.002096	0	0
SOGA1	140710	broad.mit.edu	37	20	35422871	35422871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:35422871C>T	ENST00000237536.4	-	14	3955	c.3614G>A	c.(3613-3615)gGg>gAg	p.G1205E	SOGA1_ENST00000279034.5_Missense_Mutation_p.G967E|SOGA1_ENST00000456801.2_Missense_Mutation_p.G808E|SOGA1_ENST00000357779.3_Missense_Mutation_p.G967E	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	967										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTCTGGATCCCCTGGCTCGGA	0.617000													29	55					0	0	0.006320	0	0
DNAH3	55567	broad.mit.edu	37	16	20974678	20974678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:20974678C>T	ENST00000261383.3	-	53	10527	c.10528G>A	c.(10528-10530)Gga>Aga	p.G3510R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3510	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTAGGATCCCTGGAGATCG	0.507000													30	22					0	0	0.007291	0	0
SPEG	10290	broad.mit.edu	37	2	220338616	220338616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:220338616G>A	ENST00000312358.7	+	18	4570	c.4438G>A	c.(4438-4440)Gag>Aag	p.E1480K	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1480	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGTCACATTGGAGCTGGCAGG	0.637000													7	54					0	0	0.001984	0	0
ABCA4	24	broad.mit.edu	37	1	94471033	94471033	+	Silent	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:94471033G>T	ENST00000370225.3	-	44	6197	c.6111C>A	c.(6109-6111)gcC>gcA	p.A2037A	ABCA4_ENST00000535881.1_Silent_p.A156A|ABCA4_ENST00000536513.1_Silent_p.A307A|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2037	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTCGAAGCCGGGCATAAAGGT	0.418000													22	63					7.88262e-20	8.81917e-20	0.003330	1	0
ZNF471	57573	broad.mit.edu	37	19	57029918	57029918	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:57029918G>A	ENST00000308031.5	+	4	361	c.228G>A	c.(226-228)acG>acA	p.T76T	ZNF471_ENST00000591537.1_Silent_p.T76T|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GGGAGATGACGAGTGAGATGA	0.418000													15	26					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9066175	9066175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9066175C>T	ENST00000397910.4	-	3	21474	c.21271G>A	c.(21271-21273)Gaa>Aaa	p.E7091K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7093	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						CTGGGATTTTCCAGAGAGGGA	0.502000													21	42					0	0	0.001523	0	0
INADL	10207	broad.mit.edu	37	1	62349916	62349916	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:62349916C>T	ENST00000371158.2	+	22	3081	c.2967C>T	c.(2965-2967)atC>atT	p.I989I	INADL_ENST00000316485.6_Silent_p.I989I	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	989					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGGCATGATCCCGAATGATG	0.473000													49	70					0	0	0.003610	0	0
NKX6-1	4825	broad.mit.edu	37	4	85416951	85416951	+	Silent	SNP	C	C	T	rs111718959		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:85416951C>T	ENST00000295886.4	-	2	938	c.717G>A	c.(715-717)acG>acA	p.T239T	NKX6-1_ENST00000515820.2_5'UTR	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	239	Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		AAGTGGGTCTCGTGTGTTTTC	0.488000													19	79					0	0	0.002780	0	0
ZNF516	9658	broad.mit.edu	37	18	74153874	74153874	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:74153874G>A	ENST00000443185.2	-	3	1454	c.1137C>T	c.(1135-1137)acC>acT	p.T379T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGAACTGCTTGGTGTCCGAGG	0.726000													4	5					0	0	0.000248	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221253	43221253	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:43221253C>G	ENST00000255226.6	+	8	1887	c.1071C>G	c.(1069-1071)atC>atG	p.I357M	SLC14A2_ENST00000586448.1_Missense_Mutation_p.I357M	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	357						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCATCGCCATCGGAGGCATGT	0.552000													8	35					0	0	0.008291	0	0
PSMA6	5687	broad.mit.edu	37	14	35786493	35786493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:35786493C>T	ENST00000261479.4	+	7	842	c.722C>T	c.(721-723)gCt>gTt	p.A241V	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Missense_Mutation_p.A222V|PSMA6_ENST00000555764.1_Missense_Mutation_p.A162V|PSMA6_ENST00000553809.1_Missense_Mutation_p.A247V|PSMA6_ENST00000556506.1_3'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	241					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CACCTTGTTGCTCTAGCAGAG	0.393000													55	100					0	0	0.003610	0	0
OR13C8	138802	broad.mit.edu	37	9	107331556	107331556	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:107331556G>A	ENST00000335040.1	+	1	108	c.108G>A	c.(106-108)ctG>ctA	p.L36L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGATGTACCTGATGATCCTGC	0.453000													75	50					0	0	0.003610	0	0
PLXDC2	84898	broad.mit.edu	37	10	20506404	20506404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:20506404G>A	ENST00000377252.3	+	11	2013	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q	PLXDC2_ENST00000377242.3_Missense_Mutation_p.R342Q|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	391	Thr-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACTTCTTCTCGAACCACCACA	0.443000													15	33					0	0	0.003163	0	0
CHRM5	1133	broad.mit.edu	37	15	34355903	34355903	+	Missense_Mutation	SNP	G	G	A	rs145125191	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:34355903G>A	ENST00000383263.5	+	3	1655	c.985G>A	c.(985-987)Ggt>Agt	p.G329S	CHRM5_ENST00000557872.1_Missense_Mutation_p.G329S	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	329					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CAAGAGTCAGGGTAAGGAAAG	0.502000													39	71					0	0	0.006999	0	0
ZNF214	7761	broad.mit.edu	37	11	7022720	7022720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:7022720G>A	ENST00000278314.4	-	3	509	c.194C>T	c.(193-195)tCc>tTc	p.S65F	ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Missense_Mutation_p.S65F	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTGCCAGTAGGAAAAATTTTC	0.393000													31	147					0	0	0.008361	0	0
VSTM1	284415	broad.mit.edu	37	19	54561757	54561757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:54561757G>A	ENST00000338372.2	-	3	333	c.158C>T	c.(157-159)tCc>tTc	p.S53F	VSTM1_ENST00000425006.2_Missense_Mutation_p.S53F|VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000376626.1_Missense_Mutation_p.S53F	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	53	Ig-like V-type.					integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CACATTCTGGGAATGAGCCTG	0.557000													27	124					0	0	0.007291	0	0
STAC	6769	broad.mit.edu	37	3	36422186	36422186	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:36422186G>A	ENST00000273183.3	+	1	351	c.51G>A	c.(49-51)aaG>aaA	p.K17K	STAC_ENST00000457375.2_Silent_p.K17K|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	17					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGCTGCCCAAGGAGGCGGTGG	0.677000													13	12					0	0	0.004007	0	0
SCAND3	114821	broad.mit.edu	37	6	28539927	28539927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:28539927G>A	ENST00000452236.2	-	4	4356	c.3739C>T	c.(3739-3741)Cct>Tct	p.P1247S		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1247					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						caaaatgaaggaagtgatgct	0.368000													18	32					0	0	0.007413	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738778	176738778	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:176738778G>C	ENST00000367662.3	+	16	5523	c.4359G>C	c.(4357-4359)tgG>tgC	p.W1453C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1453	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGGCACTGGGACCAGAATG	0.478000													26	72					0	0	0.003954	0	0
THSD4	79875	broad.mit.edu	37	15	71534994	71534994	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:71534994G>A	ENST00000355327.3	+	5	605	c.471G>A	c.(469-471)agG>agA	p.R157R	THSD4_ENST00000261862.6_Silent_p.R157R			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	157	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTAGGAGCAGGACCCGTGGTA	0.517000													102	190					0	0	0.003610	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60344530	60344530	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:60344530G>A	ENST00000581291.1	-	0	974																				breast(2)|kidney(1)|lung(2)	5						TTATCGGCATGAACGCCTGTT	0.602000													110	171					0	0	0.003610	0	0
FLNC	2318	broad.mit.edu	37	7	128494134	128494134	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:128494134G>A	ENST00000325888.8	+	40	6852	c.6591G>A	c.(6589-6591)cgG>cgA	p.R2197R	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.R2164R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2197	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAAGACGCGGGGCGGGGAGA	0.687000													10	25					0	0	0.008291	0	0
CENPE	1062	broad.mit.edu	37	4	104065532	104065532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:104065532C>T	ENST00000265148.3	-	33	5190	c.5101G>A	c.(5101-5103)Gag>Aag	p.E1701K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1676K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1701					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGGTCTCTCTCTACTTTGAGA	0.383000													23	74					0	0	0.002780	0	0
NPR2	4882	broad.mit.edu	37	9	35792846	35792846	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:35792846C>T	ENST00000342694.2	+	1	696	c.441C>T	c.(439-441)ccC>ccT	p.P147P		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	147					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CCTCTGCTCCCAAGCTGGGTG	0.587000													44	19					0	0	0.002852	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570498	22570498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:22570498G>A	ENST00000510882.2	+	1	704	c.694G>A	c.(694-696)Gag>Aag	p.E232K	HDGFL1_ENST00000230012.3_Missense_Mutation_p.E232K			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	232	Glu-rich.							p.E232*(1)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					AGTCGCGGACGAGGAGGCCTC	0.697000													3	6					0	0	0.004672	0	0
SLC22A7	10864	broad.mit.edu	37	6	43270099	43270099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:43270099G>A	ENST00000372585.5	+	8	1318	c.1223G>A	c.(1222-1224)gGg>gAg	p.G408E	SLC22A7_ENST00000372589.3_Missense_Mutation_p.G406E|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G406E	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	408						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			ACGCAAGCTGGGACACTGCTG	0.647000													5	23					0	0	0.001984	0	0
EMB	133418	broad.mit.edu	37	5	49699165	49699165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:49699165G>A	ENST00000303221.5	-	6	939	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	EMB_ENST00000514111.1_Nonsense_Mutation_p.Q192*|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Nonsense_Mutation_p.Q188*	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	242	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TCGCCTAATTGGAATAGTGCA	0.413000													16	60					0	0	0.006122	0	0
PMEL	6490	broad.mit.edu	37	12	56349273	56349273	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:56349273C>T	ENST00000548747.1	-	9	2399	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	PMEL_ENST00000550464.1_Silent_p.V493V|PMEL_ENST00000550447.1_Silent_p.V208V|PMEL_ENST00000539511.1_Silent_p.V493V|PMEL_ENST00000360714.4_Silent_p.V579V|PMEL_ENST00000536427.1_Silent_p.V537V|PMEL_ENST00000552882.1_Silent_p.V579V|PMEL_ENST00000449260.2_Silent_p.V579V|PMEL_ENST00000548493.1_Silent_p.V579V			P40967	PMEL_HUMAN	premelanosome protein	579					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGTGCTGACCACTGCCAGGC	0.572000													19	46					0	0	0.001882	0	0
TENM4	26011	broad.mit.edu	37	11	78419459	78419459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:78419459C>T	ENST00000278550.7	-	27	4618	c.4156G>A	c.(4156-4158)Gat>Aat	p.D1386N		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GATGTGAGATCATTAGAGCCG	0.512000													19	8					0	0	0.001523	0	0
ATP13A4	84239	broad.mit.edu	37	3	193232575	193232575	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:193232575A>T	ENST00000342695.4	-	2	468	c.146T>A	c.(145-147)gTg>gAg	p.V49E	ATP13A4_ENST00000295548.3_Missense_Mutation_p.V49E|ATP13A4_ENST00000392443.3_Missense_Mutation_p.V49E	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	49					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAGTAAAACACCAAGGGGAG	0.502000													22	60					0	0	0.002299	0	0
ERC1	23085	broad.mit.edu	37	12	1137460	1137460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:1137460C>T	ENST00000397203.2	+	2	797	c.391C>T	c.(391-393)Cct>Tct	p.P131S	ERC1_ENST00000360905.4_Missense_Mutation_p.P131S|ERC1_ENST00000543086.3_Missense_Mutation_p.P131S|ERC1_ENST00000589028.1_Missense_Mutation_p.P131S|ERC1_ENST00000355446.5_Missense_Mutation_p.P131S|ERC1_ENST00000546231.2_Missense_Mutation_p.P131S			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	131					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GCATCACCTCCCTCCTGTGAG	0.498000													23	54					0	0	0.001882	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055942	92055942	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:92055942G>A	ENST00000256343.3	-	24	3048	c.2892C>T	c.(2890-2892)gtC>gtT	p.V964V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	964					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATTGCAATGGGACACGTCCAT	0.368000													21	37					0	0	0.002299	0	0
NHSL2	340527	broad.mit.edu	37	X	71359251	71359251	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:71359251A>G	ENST00000373677.1	+	2	2017	c.755A>G	c.(754-756)cAg>cGg	p.Q252R	NHSL2_ENST00000535692.1_Missense_Mutation_p.Q252R|NHSL2_ENST00000540800.1_Missense_Mutation_p.Q618R|NHSL2_ENST00000510661.1_Missense_Mutation_p.Q387R			F5H593	F5H593_HUMAN	NHS-like 2	618										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCAGATGCTCAGGGTCACCCA	0.522000													22	7					0	0	0.002780	0	0
SHANK1	50944	broad.mit.edu	37	19	51170630	51170630	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:51170630G>A	ENST00000293441.1	-	22	4605	c.4587C>T	c.(4585-4587)ccC>ccT	p.P1529P	SHANK1_ENST00000359082.3_Silent_p.P1520P|SHANK1_ENST00000391814.1_Silent_p.P1537P|SHANK1_ENST00000391813.1_Silent_p.P916P|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1529					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGGTCGGGGAGGGGGGCACGG	0.736000													7	14					0	0	0.003080	0	0
OBSCN	84033	broad.mit.edu	37	1	228433369	228433369	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:228433369C>A	ENST00000570156.2	+	13	4087	c.4013C>A	c.(4012-4014)tCc>tAc	p.S1338Y	OBSCN_ENST00000422127.1_Missense_Mutation_p.S1246Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S1246Y|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	322	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGAGAGTCTCCTTTCAACTG	0.537000													22	79					8.24728e-16	9.2161e-16	0.004656	1	0
IPO9	55705	broad.mit.edu	37	1	201838745	201838745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:201838745G>A	ENST00000361565.4	+	17	2101	c.2032G>A	c.(2032-2034)Gta>Ata	p.V678I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	678					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GACAACAGTAGTACGAAATAC	0.483000													33	62					0	0	0.004878	0	0
GRM7	2917	broad.mit.edu	37	3	7721838	7721838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:7721838C>T	ENST00000486284.1	+	9	2828	c.2554C>T	c.(2554-2556)Cct>Tct	p.P852S	GRM7_ENST00000403881.1_Missense_Mutation_p.P852S|GRM7_ENST00000389336.4_Missense_Mutation_p.P852S|GRM7_ENST00000402647.2_Missense_Mutation_p.P852S|GRM7_ENST00000357716.4_Missense_Mutation_p.P852S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	852					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CATTTTCCACCCTGAACTCAA	0.493000													18	53					0	0	0.004990	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156907240	156907240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:156907240G>A	ENST00000368194.3	-	39	5280	c.4241C>T	c.(4240-4242)aCc>aTc	p.T1414I	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.T1374I|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.T790I|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1374					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAGTGGTCGGTGCTTGAGTC	0.587000													21	43					0	0	0.001882	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818734	159818734	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:159818734G>A	ENST00000497452.1	-	0	517																											AGGAGGGAACGAAGTCACCGA	0.507000													28	73					0	0	0.004656	0	0
GYPB	2994	broad.mit.edu	37	4	144922345	144922345	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:144922345C>T	ENST00000283126.7	-	2	184	c.129G>A	c.(127-129)caG>caA	p.Q43Q	RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000513128.1_Intron|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000429670.2_Silent_p.Q43Q|GYPB_ENST00000502664.1_Silent_p.Q43Q					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AACCATTTGTCTGTGATGAGA	0.373000													29	75					0	0	0.005524	0	0
TP53	7157	broad.mit.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:7578400G>A	ENST00000420246.2	-	5	662	c.530C>T	c.(529-531)cCc>cTc	p.P177L	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.P177L|TP53_ENST00000269305.4_Missense_Mutation_p.P177L|TP53_ENST00000359597.4_Missense_Mutation_p.P177L|TP53_ENST00000413465.2_Missense_Mutation_p.P177L|TP53_ENST00000445888.2_Missense_Mutation_p.P177L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCATGGTGGGGGCAGCGCCT	0.647000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	19					0	0	0.004656	0	0
SPTA1	6708	broad.mit.edu	37	1	158607988	158607988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:158607988G>A	ENST00000368148.3	-	36	5204	c.5024C>T	c.(5023-5025)tCc>tTc	p.S1675F	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1675F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1675					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTCCCGCTGGAGAGCAAATC	0.423000													18	33					0	0	0.001523	0	0
CSMD2	114784	broad.mit.edu	37	1	34118059	34118059	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:34118059G>T	ENST00000373381.4	-	28	4626	c.4450C>A	c.(4450-4452)Ccc>Acc	p.P1484T	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.P357T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1444	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCCCGCAGGGAGCTGAGGAG	0.562000													24	61					5.45024e-15	6.08319e-15	0.003330	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725660	140725660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140725660C>T	ENST00000253812.6	+	1	2060	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACGATTCGGACCTCACT	0.687000													35	48					0	0	0.003610	0	0
OR4M2	390538	broad.mit.edu	37	15	22369379	22369379	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:22369379C>T	ENST00000332663.2	+	1	902	c.804C>T	c.(802-804)tcC>tcT	p.S268S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACTCGTTTTCCCTAGATAAAG	0.423000													27	51					0	0	0.002096	0	0
AOC4P	90586	broad.mit.edu	37	17	41020169	41020169	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:41020169G>A	ENST00000585538.1	+	0	1008					NR_002773.1																						GCTGATCCCAGACAATGGCAC	0.622000													9	14					0	0	0.006214	0	0
GBF1	8729	broad.mit.edu	37	10	104125239	104125239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:104125239C>T	ENST00000369983.3	+	18	2449	c.2189C>T	c.(2188-2190)cCa>cTa	p.P730L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	730	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTCACCATCCCAATGGACAAC	0.488000													12	51					0	0	0.001368	0	0
CAMK2B	816	broad.mit.edu	37	7	44286758	44286758	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:44286758G>A	ENST00000395749.2	-	6	451	c.375C>T	c.(373-375)ctC>ctT	p.L125L	CAMK2B_ENST00000440254.2_Silent_p.L125L|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000395747.2_Silent_p.L125L|CAMK2B_ENST00000358707.3_Silent_p.L125L|CAMK2B_ENST00000353625.4_Silent_p.L125L|CAMK2B_ENST00000350811.3_Silent_p.L125L|CAMK2B_ENST00000347193.4_Silent_p.L125L|CAMK2B_ENST00000346990.4_Silent_p.L125L|CAMK2B_ENST00000258682.6_Silent_p.L125L|CAMK2B_ENST00000457475.1_Silent_p.L125L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	125	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGTGACAATGGAGAACGGCCT	0.587000													11	16					0	0	0.000978	0	0
BIN2	51411	broad.mit.edu	37	12	51689613	51689613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:51689613G>A	ENST00000267012.4	-	9	789	c.728C>T	c.(727-729)tCc>tTc	p.S243F	BIN2_ENST00000544402.1_Missense_Mutation_p.S217F|BIN2_ENST00000604560.1_Missense_Mutation_p.S216F|BIN2_ENST00000452142.2_Missense_Mutation_p.S211F	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	243	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GACTTTATTGGAATGTTGCTT	0.458000													83	130					0	0	0.003610	0	0
PRDM9	56979	broad.mit.edu	37	5	23526840	23526840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:23526840G>A	ENST00000296682.3	+	11	1825	c.1643G>A	c.(1642-1644)gGg>gAg	p.G548E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	548					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACATACAGGGGAGAAGCTC	0.488000										HNSCC(3;0.000094)			33	67					0	0	0.001786	0	0
ADK	132	broad.mit.edu	37	10	75960589	75960589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:75960589C>T	ENST00000372734.3	+	2	269	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	ADK_ENST00000286621.2_Missense_Mutation_p.L45F|ADK_ENST00000539909.1_Missense_Mutation_p.L45F|ADK_ENST00000541550.1_Missense_Mutation_p.L28F	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	45					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	CAAAGATTTCCTTGATAAGTA	0.328000													6	24					0	0	0.001984	0	0
C7	730	broad.mit.edu	37	5	40947812	40947812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:40947812C>T	ENST00000313164.9	+	8	1206	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	283	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCTTTCCCACCTCCCCTCTCT	0.448000													32	51					0	0	0.002445	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508087	37508087	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:37508087C>T	ENST00000374660.1	+	40	3735	c.3636C>T	c.(3634-3636)acC>acT	p.T1212T	ANKRD30A_ENST00000361713.1_Silent_p.T1093T|ANKRD30A_ENST00000602533.1_Silent_p.T1093T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTCAGATGACCCTAAAACTGA	0.348000													34	124					0	0	0.007835	0	0
TBX5	6910	broad.mit.edu	37	12	114803958	114803958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:114803958G>A	ENST00000526441.1	-	7	993	c.994C>T	c.(994-996)Cac>Tac	p.H332Y	TBX5_ENST00000405440.2_Intron|TBX5_ENST00000310346.4_Intron|TBX5_ENST00000349716.5_Intron			Q99593	TBX5_HUMAN	T-box 5	336					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GACCAGGGGTGATCACACTCA	0.473000													13	23					0	0	0.001368	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769915	43769915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:43769915C>T	ENST00000389420.3	-	35	5256	c.5257G>A	c.(5257-5259)Gaa>Aaa	p.E1753K		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1753	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTAAATATTCCTTAGGGTTC	0.338000													3	14					0	0	0.004672	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462748	21462748	+	Silent	SNP	G	G	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:21462748G>T	ENST00000281523.2	-	8	1664	c.1146C>A	c.(1144-1146)ccC>ccA	p.P382P		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	382						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CGGTCCGAATGGGTCCAGGAG	0.488000													12	27					3.27435e-08	3.62855e-08	0.002450	1	0
WDR7	23335	broad.mit.edu	37	18	54424157	54424157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:54424157C>T	ENST00000254442.3	+	15	2544	c.2333C>T	c.(2332-2334)cCt>cTt	p.P778L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.P778L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	778										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAAAGTGATCCTGAATATCGG	0.428000													6	26					0	0	0.001168	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354287	17354287	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:17354287G>A	ENST00000511821.1	+	0	146				FTH1P10_ENST00000401830.3_RNA																							ATATCCTGAAGGAAGATTCGG	0.453000													34	93					0	0	0.004878	0	0
DAW1	164781	broad.mit.edu	37	2	228783512	228783512	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:228783512C>T	ENST00000309931.2	+	11	1073	c.990C>T	c.(988-990)ttC>ttT	p.F330F	DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Silent_p.F315F	NM_178821.1	NP_849143.1			dynein assembly factor with WDR repeat domains 1																		CAAGAATTTTCAGTGCTGCCA	0.343000													17	25					0	0	0.008871	0	0
OR5R1	219479	broad.mit.edu	37	11	56184863	56184863	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56184863G>A	ENST00000312253.1	-	1	845	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTAACATGGGGATCACCACTG	0.383000													37	46					0	0	0.005524	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909368	32909368	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:32909368G>A	ENST00000304056.4	-	4	2160	c.1461C>T	c.(1459-1461)ctC>ctT	p.L487L	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	487										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGCCAGAGGGGAGTCTTATGC	0.423000													43	70					0	0	0.003610	0	0
DCHS2	54798	broad.mit.edu	37	4	155241618	155241618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:155241618C>T	ENST00000357232.3	-	14	3567	c.3568G>A	c.(3568-3570)Gat>Aat	p.D1190N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1190	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCGTCTGGATCGTGAGCAGTT	0.453000													81	122					0	0	0.003610	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515792	47515792	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47515792C>T	ENST00000371901.3	+	12	1726	c.1476C>T	c.(1474-1476)atC>atT	p.I492I	CYP4X1_ENST00000538609.1_Silent_p.I491I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	492						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACCATTTTATCCTCAAGCCCA	0.418000													48	55					0	0	0.003610	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672309	44672309	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:44672309G>A	ENST00000454036.1	+	10	1420	c.1344G>A	c.(1342-1344)agG>agA	p.R448R	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.R425R	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	448					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGACCTGAGGGATGCCCAGA	0.592000													23	74					0	0	0.004656	0	0
OLIG3	167826	broad.mit.edu	37	6	137814849	137814849	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:137814849C>T	ENST00000367734.2	-	1	682	c.459G>A	c.(457-459)ggG>ggA	p.G153G		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGTGGTGGCCCCCATAGATCT	0.657000													13	25					0	0	0.002450	0	0
OR2T4	127074	broad.mit.edu	37	1	248524930	248524930	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248524930C>T	ENST00000366475.1	+	1	48	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTCGGATTTCATCCTGATGG	0.493000													20	45					0	0	0.002780	0	0
ADRBK1	156	broad.mit.edu	37	11	67052452	67052452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:67052452C>T	ENST00000308595.5	+	19	2079	c.1789C>T	c.(1789-1791)Ccg>Tcg	p.P597S	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	597	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GGGCGAGGCCCCGGTAAGGAG	0.706000													8	15					0	0	0.003080	0	0
BCL7C	9274	broad.mit.edu	37	16	30900257	30900257	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:30900257C>G	ENST00000380317.4	-	5	809	c.452G>C	c.(451-453)gGc>gCc	p.G151A	BCL7C_ENST00000215115.4_Missense_Mutation_p.G151A|MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000570025.1_RNA|MIR4519_ENST00000564901.1_RNA|AC106782.20_ENST00000572471.1_RNA			Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	151	Pro-rich.				apoptosis					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			AGCAGTTATGCCCCCGGGATC	0.587000													10	76					0	0	0.001855	0	0
KLHL13	90293	broad.mit.edu	37	X	117044002	117044002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:117044002C>T	ENST00000371876.1	-	4	2896	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	KLHL13_ENST00000541812.1_Missense_Mutation_p.E194K|KLHL13_ENST00000371878.1_Missense_Mutation_p.E159K|KLHL13_ENST00000539496.1_Missense_Mutation_p.E213K|KLHL13_ENST00000469946.1_Missense_Mutation_p.E159K|KLHL13_ENST00000371882.1_Missense_Mutation_p.E159K|KLHL13_ENST00000262820.3_Missense_Mutation_p.E210K|KLHL13_ENST00000540167.1_Missense_Mutation_p.E194K|KLHL13_ENST00000545703.1_Missense_Mutation_p.E168K			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	210	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTATCCACTTCGGTTAGATTG	0.388000													36	14					0	0	0.005524	0	0
LTBP1	4052	broad.mit.edu	37	2	33505208	33505208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:33505208G>A	ENST00000404816.2	+	19	3448	c.3095G>A	c.(3094-3096)tGg>tAg	p.W1032*	LTBP1_ENST00000354476.3_Nonsense_Mutation_p.W1033*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.W653*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.W707*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.W653*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.W706*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.W706*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1032	EGF-like 7; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTCCGAGGCTGGAATGGACAG	0.448000													19	28					0	0	0.008871	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119120819	119120819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:119120819C>T	ENST00000264245.4	+	10	1752	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	407					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCTCCCGGGGCTGAGGGTGGC	0.627000													24	21					0	0	0.005443	0	0
CSH2	1443	broad.mit.edu	37	17	61950972	61950972	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:61950972C>T	ENST00000336844.5	-	1	154	c.3G>A	c.(1-3)atG>atA	p.M1I	CSH2_ENST00000560142.1_Start_Codon_SNP_p.M1I|CSH2_ENST00000392886.2_Start_Codon_SNP_p.M1I|CSH2_ENST00000345366.7_Start_Codon_SNP_p.M1I	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	1					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						TACCTGCAGCCATTGCCGCTA	0.602000													7	35					0	0	0.006122	0	0
LRRK2	120892	broad.mit.edu	37	12	40697974	40697974	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:40697974G>A	ENST00000343742.2	+	27	3936	c.3815G>A	c.(3814-3816)tGa>tAa	p.*1272*	LRRK2_ENST00000298910.7_Intron			Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	0					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)				TATACTTTATGATTTGCATCA	0.289000													5	15					0	0	0.000602	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696344	48696344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:48696344C>T	ENST00000352832.5	+	31	6026	c.5654C>T	c.(5653-5655)tCc>tTc	p.S1885F	CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1885F|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1885F|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1867F|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1912F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1908F|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1908F|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1894F|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1919F|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1885F|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1874F|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1885F|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1896F|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1919F|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1908F|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1896F|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1874F|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1901F|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1901F|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1919F|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1862F|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1926F|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1919F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1908F|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1878F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1919					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGATCAGCCTCCCACTTTTCC	0.711000													4	9					0	0	0.000602	0	0
GLI2	2736	broad.mit.edu	37	2	121708892	121708892	+	Missense_Mutation	SNP	C	C	T	rs143139718		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:121708892C>T	ENST00000452319.1	+	4	388	c.328C>T	c.(328-330)Cct>Tct	p.P110S	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.P110S|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	110					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCCGGCTGGCCCTGGGGAGTC	0.647000													33	65					0	0	0.002836	0	0
KMT2A	4297	broad.mit.edu	37	11	118344458	118344458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:118344458C>T	ENST00000534358.1	+	3	2607	c.2584C>T	c.(2584-2586)Cga>Tga	p.R862*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R862*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R862*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTCCAAAGATCGAGATGCTGA	0.488000													9	9					0	0	0.004482	0	0
SV2A	9900	broad.mit.edu	37	1	149885369	149885369	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:149885369C>T	ENST00000369146.3	-	2	514	c.24G>A	c.(22-24)cgG>cgA	p.R8R	SV2A_ENST00000369145.1_Silent_p.R8R	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	8	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGAAAGCTGCCCGGTCTCGGA	0.527000													24	73					0	0	0.005443	0	0
BAG6	7917	broad.mit.edu	37	6	31612874	31612874	+	Silent	SNP	G	G	A	rs138634242		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:31612874G>A	ENST00000404765.2	-	10	1507	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	BAG6_ENST00000375964.6_Silent_p.S412S|BAG6_ENST00000362049.6_Silent_p.S406S|BAG6_ENST00000439687.2_Silent_p.S406S|BAG6_ENST00000375976.4_Silent_p.S406S|BAG6_ENST00000211379.5_Silent_p.S406S			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	412	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						ACGGAGCCACGGATGAGGCCT	0.657000													256	420					0	0	0.003610	0	0
DNAJC17	55192	broad.mit.edu	37	15	41068488	41068488	+	Silent	SNP	G	G	A	rs146094788		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:41068488G>A	ENST00000220496.4	-	6	414	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	128					protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TCAGGCGTTCGATCTGCAGAG	0.587000													13	21					0	0	0.001368	0	0
IGHA1	3493	broad.mit.edu	37	14	106174455	106174455	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:106174455G>A	ENST00000390547.2	-	0	333																											ggagttgagggagatggggta	0.627000													3	7					0	0	0.004672	0	0
CHRNA5	1138	broad.mit.edu	37	15	78873238	78873238	+	Silent	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:78873238T>A	ENST00000299565.5	+	2	392	c.192T>A	c.(190-192)ccT>ccA	p.P64P	CHRNA5_ENST00000559554.1_Silent_p.P64P	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	64					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						GGGTTCGTCCTGTGGAACACC	0.343000													22	40					0	0	0.001882	0	0
KCNK10	54207	broad.mit.edu	37	14	88729597	88729597	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:88729597G>A	ENST00000340700.5	-	2	787	c.336C>T	c.(334-336)ttC>ttT	p.F112F	KCNK10_ENST00000312350.5_Silent_p.F117F|KCNK10_ENST00000319231.5_Silent_p.F117F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	112					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GATCCCGCAGGAATTCCGCCT	0.582000													13	34					0	0	0.001855	0	0
TFEB	7942	broad.mit.edu	37	6	41653836	41653836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:41653836G>A	ENST00000230323.4	-	9	1244	c.943C>T	c.(943-945)Cgt>Tgt	p.R315C	TFEB_ENST00000358871.2_Missense_Mutation_p.R329C|TFEB_ENST00000420312.1_Missense_Mutation_p.R230C|TFEB_ENST00000373033.1_Missense_Mutation_p.R315C|TFEB_ENST00000403298.4_Missense_Mutation_p.R315C	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	315	Leucine-zipper.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACCTGGATACGGAGCCAGAGC	0.542000			T	ALPHA	renal (childhood epithelioid)								20	66					0	0	0.002780	0	0
OR4N4	283694	broad.mit.edu	37	15	22383340	22383340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:22383340C>T	ENST00000328795.4	+	1	959	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATACCCTTCGCAACCAGGA	0.413000													30	73					0	0	0.008361	0	0
SLC44A5	204962	broad.mit.edu	37	1	75707705	75707705	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:75707705C>T	ENST00000370855.5	-	9	626	c.513G>A	c.(511-513)gcG>gcA	p.A171A	SLC44A5_ENST00000370859.3_Silent_p.A171A|SLC44A5_ENST00000535611.1_Silent_p.A41A	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	171						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGGGAAAAATCGCTGTTGGAC	0.353000													35	82					0	0	0.002522	0	0
ESPNL	339768	broad.mit.edu	37	2	239016574	239016574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:239016574G>A	ENST00000343063.3	+	4	1078	c.815G>A	c.(814-816)gGg>gAg	p.G272E	ESPNL_ENST00000409169.1_Missense_Mutation_p.G272E	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	272										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCCTGGGGTGGGACCCCCCTC	0.657000													5	21					0	0	0.000602	0	0
NCOA6	23054	broad.mit.edu	37	20	33328842	33328842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:33328842G>A	ENST00000374796.2	-	12	7788	c.5218C>T	c.(5218-5220)Cct>Tct	p.P1740S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1740S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1740	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGCTGAACAGGGGTGGCTCGT	0.522000													45	74					0	0	0.003214	0	0
GPR75	10936	broad.mit.edu	37	2	54081724	54081724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:54081724G>A	ENST00000394705.2	-	2	440	c.170C>T	c.(169-171)tCc>tTc	p.S57F	ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	57						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTTGCCATAGGAACCCAGGCA	0.488000													18	18					0	0	0.004990	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156629446	156629446	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:156629446G>A	ENST00000296518.7	+	5	585	c.376_splice	c.e5+1	p.G126_splice	GUCY1A3_ENST00000513574.1_Splice_Site_p.G126_splice|GUCY1A3_ENST00000506455.1_Splice_Site_p.G126_splice|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Splice_Site_p.G126_splice|GUCY1A3_ENST00000511507.1_Splice_Site_p.G126_splice|GUCY1A3_ENST00000455639.2_Splice_Site_p.G126_splice|GUCY1A3_ENST00000515602.1_3'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	126				AAGV -> QQS (in Ref. 1; CAA47145).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGTTGCAGCAGGTAATAGAAT	0.294000													21	59					0	0	0.004656	0	0
ZNF365	22891	broad.mit.edu	37	10	64159307	64159307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:64159307C>T	ENST00000395254.3	+	5	1263	c.983C>T	c.(982-984)tCg>tTg	p.S328L	ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CACCCGCATTCGGTATGTAAC	0.493000													56	65					0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274229	123274229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:123274229C>T	ENST00000264501.4	+	81	14393	c.14020C>T	c.(14020-14022)Cgt>Tgt	p.R4674C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4674C			Q2LD37	K1109_HUMAN	KIAA1109	4674					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCAAATTTTCGTTCAAAATC	0.368000													22	46					0	0	0.002299	0	0
OR4C12	283093	broad.mit.edu	37	11	50003782	50003782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:50003782C>T	ENST00000335238.4	-	1	289	c.256G>A	c.(256-258)Gag>Aag	p.E86K		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTTTCTTCTCTTGAAAGGAA	0.433000													40	64					0	0	0.002522	0	0
RGPD4	285190	broad.mit.edu	37	2	108488514	108488514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:108488514G>A	ENST00000408999.3	+	20	4131	c.4054G>A	c.(4054-4056)Gaa>Aaa	p.E1352K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1352K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1352	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGTGGTGAGGAAAATGAAAA	0.368000													109	133					0	0	0.003610	0	0
SYCP1	6847	broad.mit.edu	37	1	115487547	115487547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:115487547G>A	ENST00000369522.3	+	25	2338	c.2098G>A	c.(2098-2100)Gat>Aat	p.D700N	SYCP1_ENST00000369518.1_Missense_Mutation_p.D700N	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	700					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAGAAATTGATAAGCGATG	0.264000													15	25					0	0	0.006122	0	0
ALS2	57679	broad.mit.edu	37	2	202632042	202632042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:202632042G>A	ENST00000264276.6	-	3	457	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.P29S	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	29					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGTGTTATGGGAAAGGATCCT	0.468000													12	23					0	0	0.001855	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907988	164907988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:164907988G>A	ENST00000475390.1	-	2	1074	c.631C>T	c.(631-633)Ctt>Ttt	p.L211F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L211F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	211						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CGGTAAAAAAGAACCTTTAAC	0.398000										HNSCC(40;0.11)			16	47					0	0	0.008871	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776189	159776189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:159776189G>A	ENST00000393975.3	-	3	982	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	282						collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTCGTTGGGGTCATCCTGG	0.557000													45	47					0	0	0.003610	0	0
THSD7A	221981	broad.mit.edu	37	7	11630229	11630229	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:11630229C>T	ENST00000423059.3	-	4	1562	c.1311G>A	c.(1309-1311)gtG>gtA	p.V437V		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	437	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCAAAGGGTCCACACGGCACT	0.547000										HNSCC(18;0.044)			11	14					0	0	0.008291	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569862	30569862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:30569862C>T	ENST00000376511.2	-	19	3116	c.2564G>A	c.(2563-2565)gGg>gAg	p.G855E		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	855	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCATGGGGCCCCCCGTGTCC	0.672000													18	39					0	0	0.007413	0	0
PHRF1	57661	broad.mit.edu	37	11	607720	607720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:607720C>T	ENST00000264555.5	+	14	2392	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	PHRF1_ENST00000533464.1_Missense_Mutation_p.S751F|PHRF1_ENST00000416188.2_Missense_Mutation_p.S754F|PHRF1_ENST00000413872.2_Missense_Mutation_p.S753F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	755							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCCCCAGCTCCCATGGCAGT	0.667000													9	18					0	0	0.006214	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695545	219695545	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219695545C>T	ENST00000439262.2	-	3	173	c.78G>A	c.(76-78)ggG>ggA	p.G26G	PRKAG3_ENST00000392098.3_Silent_p.G51G|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000529249.1_Silent_p.G51G	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	51					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCCGTTTCCCACGGATTC	0.587000													48	54					0	0	0.003610	0	0
LLGL2	3993	broad.mit.edu	37	17	73565087	73565087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:73565087G>A	ENST00000392550.3	+	13	1468	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	LLGL2_ENST00000577200.1_Missense_Mutation_p.D451N|LLGL2_ENST00000167462.5_Missense_Mutation_p.D451N	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	451					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCGGTTCTGGGATGCCTCGGG	0.667000													9	16					0	0	0.006214	0	0
CXCR2	3579	broad.mit.edu	37	2	219000202	219000202	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:219000202C>T	ENST00000318507.2	+	3	1105	c.678C>T	c.(676-678)atC>atT	p.I226I		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	226					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CACTGCTGATCATGCTGTTCT	0.567000													41	115					0	0	0.002522	0	0
DMPK	1760	broad.mit.edu	37	19	46280937	46280937	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:46280937G>A	ENST00000600757.1	-	6	1587	c.900C>T	c.(898-900)atC>atT	p.I300I	DMPK_ENST00000447742.2_Silent_p.I290I|DMPK_ENST00000291270.4_Silent_p.I290I|DMPK_ENST00000354227.5_Silent_p.I290I|DMPK_ENST00000458663.2_Silent_p.I290I|DMPK_ENST00000343373.4_Silent_p.I300I			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	300	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TGTAGTGGACGATCTTGCCAT	0.617000													58	99					0	0	0.003610	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103597417	103597417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:103597417G>A	ENST00000560869.1	+	7	1867	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	TNFAIP2_ENST00000333007.1_Missense_Mutation_p.E410K|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.E79K			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	410					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TGAATTTCTGGAGAGAGGCAA	0.562000													11	70					0	0	0.001368	0	0
ZNF793	390927	broad.mit.edu	37	19	38028636	38028636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38028636G>A	ENST00000445217.1	+	4	1111	c.1076G>A	c.(1075-1077)aGa>aAa	p.R359K	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.R359K|ZNF793_ENST00000542455.1_Missense_Mutation_p.R359K|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAACATTGGAGAACTCACACA	0.448000													29	42					0	0	0.002836	0	0
SMYD5	10322	broad.mit.edu	37	2	73446039	73446039	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:73446039C>T	ENST00000389501.4	+	2	192	c.147C>T	c.(145-147)ttC>ttT	p.F49F	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	49							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AGACCATCTTCGTAGAACGGC	0.537000													33	25					0	0	0.004289	0	0
CELSR3	1951	broad.mit.edu	37	3	48694669	48694669	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:48694669G>A	ENST00000544264.1	-	2	4141	c.3861C>T	c.(3859-3861)ttC>ttT	p.F1287F	CELSR3_ENST00000164024.4_Silent_p.F1287F			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1287					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCGGTGACAGGAAGCGCTCCT	0.637000													8	12					0	0	0.003080	0	0
DTNA	1837	broad.mit.edu	37	18	32398223	32398223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:32398223G>A	ENST00000283365.9	+	9	1156	c.805G>A	c.(805-807)Gac>Aac	p.D269N	DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.D269N|DTNA_ENST00000597599.1_Missense_Mutation_p.D269N|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000348997.5_Missense_Mutation_p.D269N|DTNA_ENST00000598774.1_Missense_Mutation_p.D269N|DTNA_ENST00000598142.1_Missense_Mutation_p.D269N|DTNA_ENST00000399121.5_Missense_Mutation_p.D269N|DTNA_ENST00000315456.6_Missense_Mutation_p.D269N|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000598334.1_Missense_Mutation_p.D269N|DTNA_ENST00000399113.3_Missense_Mutation_p.D269N|DTNA_ENST00000554864.3_Missense_Mutation_p.D269N|DTNA_ENST00000444659.1_Missense_Mutation_p.D269N|DTNA_ENST00000595022.1_Missense_Mutation_p.D269N|DTNA_ENST00000269190.7_Missense_Mutation_p.D269N	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	269	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCTCTGTCAGGACTGCTTCTG	0.507000													14	49					0	0	0.001855	0	0
GRM6	2916	broad.mit.edu	37	5	178413621	178413621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:178413621C>T	ENST00000231188.5	-	8	1812	c.1634G>A	c.(1633-1635)gGg>gAg	p.G545E	GRM6_ENST00000517717.1_Missense_Mutation_p.G545E|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	545					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GAAGCGGTACCCGTCACAGGC	0.687000													6	36					0	0	0.001168	0	0
MYBPC1	4604	broad.mit.edu	37	12	102054987	102054987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:102054987G>A	ENST00000549145.1	+	19	2043	c.1943G>A	c.(1942-1944)tGg>tAg	p.W648*	MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.W622*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.W635*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.W536*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.W635*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.W660*|MYBPC1_ENST00000550270.1_Nonsense_Mutation_p.W635*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.W660*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.W609*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.W635*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.W621*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.W623*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.W616*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.W635*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.W635*			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	635	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GGAGATGACTGGTGTATCATG	0.493000													17	32					0	0	0.007413	0	0
ANK3	288	broad.mit.edu	37	10	61833636	61833636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:61833636C>T	ENST00000280772.1	-	37	7194	c.7003G>A	c.(7003-7005)Gaa>Aaa	p.E2335K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2335					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTACCTTTTTCGATGTGGACT	0.428000													31	90					0	0	0.008361	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166766	140166766	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:140166766C>T	ENST00000504120.2	+	1	891	c.891C>T	c.(889-891)tcC>tcT	p.S297S	PCDHA1_ENST00000378133.3_Silent_p.S297S|PCDHA1_ENST00000394633.3_Silent_p.S297S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTTGATTCCAGCTCAGGAG	0.368000													13	55					0	0	0.001855	0	0
KCNH5	27133	broad.mit.edu	37	14	63316382	63316382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:63316382C>T	ENST00000322893.7	-	8	1826	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	KCNH5_ENST00000420622.2_Missense_Mutation_p.D520N|KCNH5_ENST00000394968.1_Missense_Mutation_p.D462N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	520					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTTCTGTATCAATGCCTTTT	0.358000													38	57					0	0	0.004878	0	0
KDM1B	221656	broad.mit.edu	37	6	18186031	18186031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:18186031C>T	ENST00000388870.2	+	8	804	c.563C>T	c.(562-564)cCa>cTa	p.P188L	KDM1B_ENST00000297792.5_Missense_Mutation_p.P188L|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.P188L			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	188					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TGTTCCCTCCCAGAGGATCTA	0.373000													39	97					0	0	0.003214	0	0
CD300LB	124599	broad.mit.edu	37	17	72522044	72522044	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:72522044C>T	ENST00000392621.1	-	2	328	c.324G>A	c.(322-324)gaG>gaA	p.E108E	CD300LB_ENST00000314401.3_Silent_p.E108E	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	71	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GGTCACTCTTCTCTCCTTGCT	0.532000													71	99					0	0	0.003610	0	0
C1orf106	55765	broad.mit.edu	37	1	200881005	200881005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:200881005G>A	ENST00000367342.4	+	9	1839	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	C1orf106_ENST00000413687.2_Missense_Mutation_p.E462K	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	547										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCCTGCTTACGAGGAGGAGGG	0.746000													5	8					0	0	0.001984	0	0
TECRL	253017	broad.mit.edu	37	4	65145804	65145804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:65145804G>A	ENST00000381210.3	-	12	1188	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S	TECRL_ENST00000507440.1_Intron	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	360					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AATATGAATGGAATCATTGCT	0.274000													13	21					0	0	0.001855	0	0
MORC2	22880	broad.mit.edu	37	22	31333589	31333589	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:31333589G>A	ENST00000215862.4	-	16	2656	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	MORC2_ENST00000397641.2_Silent_p.I493I|MORC2_ENST00000469915.1_Intron	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	493							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGGTGGTGGGGATTTCCATAG	0.552000													36	53					0	0	0.004289	0	0
C10orf129	142827	broad.mit.edu	37	10	96967153	96967153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:96967153G>A	ENST00000341686.3	+	4	717	c.592G>A	c.(592-594)Gat>Aat	p.D198N	C10orf129_ENST00000394005.3_Missense_Mutation_p.D198N|C10orf129_ENST00000430183.1_Missense_Mutation_p.D43N	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	198					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGGGTGGTTGGATTTCAAGAA	0.418000													23	30					0	0	0.003330	0	0
PTH2R	5746	broad.mit.edu	37	2	209345797	209345797	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:209345797G>A	ENST00000272847.2	+	10	1197	c.984G>A	c.(982-984)ctG>ctA	p.L328L	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	328						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTTTTCAGCTGAATTTTATTC	0.303000													11	14					0	0	0.000978	0	0
EDN3	1908	broad.mit.edu	37	20	57876712	57876712	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:57876712C>T	ENST00000311585.7	+	2	670	c.300C>T	c.(298-300)ttC>ttT	p.F100F	EDN3_ENST00000395654.3_Silent_p.F100F|EDN3_ENST00000371028.2_Silent_p.F100F|EDN3_ENST00000371025.3_Silent_p.F100F|EDN3_ENST00000337938.2_Silent_p.F100F	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	100					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GCACGTGCTTCACCTACAAGG	0.612000													58	95					0	0	0.003610	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153909170	153909170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:153909170C>T	ENST00000356448.4	+	8	2017	c.1733C>T	c.(1732-1734)cCc>cTc	p.P578L	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.P578L	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	578	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CTCATTCTCCCCATGCAGAGG	0.463000													12	25					0	0	0.001368	0	0
CDH2	1000	broad.mit.edu	37	18	25543453	25543453	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:25543453G>A	ENST00000269141.3	-	15	2805	c.2382C>T	c.(2380-2382)gaC>gaT	p.D794D	CDH2_ENST00000399380.3_Silent_p.D763D|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	794					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTCCACAGTGTCAGGCTGCT	0.522000													6	27					0	0	0.001984	0	0
HYDIN	54768	broad.mit.edu	37	16	70871691	70871691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:70871691G>A	ENST00000393567.2	-	77	13294	c.13144C>T	c.(13144-13146)Cct>Tct	p.P4382S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4382										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTTCTCGAGGATAAAAAGTT	0.418000													9	45					0	0	0.000978	0	0
GRM1	2911	broad.mit.edu	37	6	146351045	146351045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:146351045G>A	ENST00000392299.2	+	2	862	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	GRM1_ENST00000282753.1_Missense_Mutation_p.R131Q|GRM1_ENST00000492807.2_Missense_Mutation_p.R131Q|GRM1_ENST00000507907.1_Missense_Mutation_p.R131Q|GRM1_ENST00000361719.2_Missense_Mutation_p.R131Q|GRM1_ENST00000355289.4_Missense_Mutation_p.R131Q			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	131					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATTTCCATTCGAGATGAGAAG	0.582000													41	53					0	0	0.008740	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965514	35965514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:35965514C>T	ENST00000274278.3	-	4	1174	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.E239K|UGT3A1_ENST00000333811.4_Missense_Mutation_p.E219K|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E273K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	273						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAGGTTTTTCCATCAAGCCT	0.453000													29	53					0	0	0.002096	0	0
ZNF154	7710	broad.mit.edu	37	19	58216322	58216322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:58216322G>A	ENST00000512439.2	-	2	255	c.59C>T	c.(58-60)gCc>gTc	p.A20V	AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.A20V|AC003006.7_ENST00000599221.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	20	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A20V(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAAGTGTACGGCCACATCTTC	0.512000													42	87					0	0	0.003610	0	0
SLC35B4	84912	broad.mit.edu	37	7	133981213	133981213	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:133981213A>G	ENST00000378509.4	-	9	978	c.679T>C	c.(679-681)Tat>Cat	p.Y227H		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	227						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						GGAATTTCATATAACTCTGTA	0.413000													5	46					0	0	0.000602	0	0
OR4M1	441670	broad.mit.edu	37	14	20248610	20248610	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:20248610C>T	ENST00000315957.4	+	1	210	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGAAATATCCTTATCATTT	0.418000													79	169					0	0	0.003610	0	0
CTNND2	1501	broad.mit.edu	37	5	10988308	10988308	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:10988308C>T	ENST00000304623.8	-	20	3447	c.3258G>A	c.(3256-3258)agG>agA	p.R1086R	CTNND2_ENST00000511377.1_Silent_p.R995R|CTNND2_ENST00000503622.1_Silent_p.R749R|CTNND2_ENST00000359640.2_Silent_p.R1028R|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.R653R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1086					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGTCTGTTTTCCTTTCTTTGA	0.527000											OREG0016517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	70					0	0	0.007291	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628574	205628574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:205628574G>A	ENST00000367145.3	-	5	1745	c.1450C>T	c.(1450-1452)Ccg>Tcg	p.P484S	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	484					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCCGGCCCGGAACCACCCTG	0.667000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	29					0	0	0.006214	0	0
LILRB1	10859	broad.mit.edu	37	19	55143453	55143453	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:55143453C>T	ENST00000396331.1	+	6	783	c.426C>T	c.(424-426)atC>atT	p.I142I	LILRB1_ENST00000396321.2_Silent_p.I142I|LILRB1_ENST00000427581.2_Silent_p.I178I|LILRB1_ENST00000418536.2_Silent_p.I142I|LILRB1_ENST00000396327.3_Silent_p.I142I|LILRB1_ENST00000448689.1_Silent_p.I142I|LILRB1_ENST00000396332.4_Silent_p.I142I|LILRB1_ENST00000324602.7_Silent_p.I142I|LILRB1_ENST00000434867.2_Silent_p.I142I|LILRB1_ENST00000396317.1_Silent_p.I142I|LILRB1_ENST00000396315.1_Silent_p.I142I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	142	Ig-like C2-type 2.		I -> T (in dbSNP:rs1061680).		regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.I142I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGAATGTAATCCTCCAGTGTG	0.552000										HNSCC(37;0.09)			19	38					0	0	0.007413	0	0
NEFM	4741	broad.mit.edu	37	8	24773142	24773142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:24773142G>A	ENST00000221166.5	+	2	1887	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	NEFM_ENST00000437366.2_Missense_Mutation_p.E369K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_5'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E369K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	369	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCTGGAAAATGAGCTTCGGGG	0.512000													32	67					0	0	0.002445	0	0
OS9	10956	broad.mit.edu	37	12	58113910	58113910	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:58113910C>T	ENST00000315970.7	+	13	1670	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Intron|OS9_ENST00000439210.2_Intron|OS9_ENST00000551035.1_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000389146.6_Silent_p.V528V|OS9_ENST00000389142.5_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000435406.2_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	543					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GAGTCCGGGTCCGGGTCACCA	0.577000													34	76					0	0	0.006230	0	0
CABS1	85438	broad.mit.edu	37	4	71201181	71201181	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:71201181A>C	ENST00000273936.4	+	1	484	c.425A>C	c.(424-426)gAa>gCa	p.E142A		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	142						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATAGCAAAAGAAGATATCCTC	0.403000													22	33					0	0	0.004656	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428398	1428398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:1428398G>A	ENST00000355432.3	+	11	1199	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000381529.3_3'UTR	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGAATGGCATGGACATCTCCG	0.468000													64	151					0	0	0.003610	0	0
THEMIS	387357	broad.mit.edu	37	6	128134804	128134804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:128134804G>A	ENST00000368250.1	-	5	1243	c.745C>T	c.(745-747)Cct>Tct	p.P249S	THEMIS_ENST00000543064.1_Missense_Mutation_p.P328S|THEMIS_ENST00000537166.1_Missense_Mutation_p.P293S|THEMIS_ENST00000368248.2_Missense_Mutation_p.P328S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	328	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGTCTTTTAGGAAAATTGCTT	0.458000													19	91					0	0	0.001523	0	0
CEP112	201134	broad.mit.edu	37	17	64092741	64092741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:64092741G>A	ENST00000392769.2	-	7	870	c.652C>T	c.(652-654)Cct>Tct	p.P218S	CEP112_ENST00000535342.2_Missense_Mutation_p.P218S|CEP112_ENST00000537949.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	218						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						AGGTATCGAGGATTTTCTATC	0.279000													4	39					0	0	0.000602	0	0
EMCN	51705	broad.mit.edu	37	4	101401114	101401114	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:101401114C>T	ENST00000296420.4	-	2	325	c.147G>A	c.(145-147)caG>caA	p.Q49Q	EMCN_ENST00000305864.3_Silent_p.Q49Q|EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000511970.1_Silent_p.Q49Q	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	49	Thr-rich.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CAACATTTTTCTGTAATGATT	0.299000													14	27					0	0	0.004990	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953432	8953432	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:8953432C>T	ENST00000595891.1	+	3	309	c.78C>T	c.(76-78)atC>atT	p.I26I	MBD3L1_ENST00000305625.2_Silent_p.I26I			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	26	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GCACCTCAATCCCTTTGAGAA	0.468000													17	25					0	0	0.006122	0	0
CYP4B1	1580	broad.mit.edu	37	1	47283644	47283644	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47283644G>A	ENST00000271153.4	+	10	1248	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	CYP4B1_ENST00000371919.4_Silent_p.L390L|CYP4B1_ENST00000452782.2_Silent_p.L242L|CYP4B1_ENST00000371923.4_Silent_p.L405L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	404					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CAGGAAGCCTGATCTCTATGC	0.567000													58	114					0	0	0.003610	0	0
MED12L	116931	broad.mit.edu	37	3	151105621	151105621	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:151105621G>A	ENST00000474524.1	+	35	5045	c.5007G>A	c.(5005-5007)caG>caA	p.Q1669Q	MED12L_ENST00000273432.4_Silent_p.Q1529Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1669					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTACGAAGCAGAAGGTGTCCC	0.522000													35	55					0	0	0.006999	0	0
FBXL4	26235	broad.mit.edu	37	6	99347336	99347336	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:99347336G>A	ENST00000369244.2	-	7	1553	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	FBXL4_ENST00000229971.1_Silent_p.S375S			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	375					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GTACTAATTCGGATCCACAAA	0.338000													14	22					0	0	0.001855	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766990	77766990	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:77766990G>A	ENST00000521891.2	+	10	8281	c.7833G>A	c.(7831-7833)acG>acA	p.T2611T	ZFHX4_ENST00000518282.1_Silent_p.T2585T|ZFHX4_ENST00000050961.6_Silent_p.T2566T|ZFHX4_ENST00000455469.2_Silent_p.T2566T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2566						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAGAACCACGATCACCCCGG	0.423000										HNSCC(33;0.089)			14	22					0	0	0.003163	0	0
GRIA2	2891	broad.mit.edu	37	4	158281129	158281129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:158281129G>A	ENST00000296526.7	+	13	2450	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	GRIA2_ENST00000393815.2_Missense_Mutation_p.E662K|GRIA2_ENST00000449365.1_Missense_Mutation_p.E662K|GRIA2_ENST00000507898.1_Missense_Mutation_p.E662K|GRIA2_ENST00000264426.9_Missense_Mutation_p.E709K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	709					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GACTACGGCCGAAGGGGTGGC	0.498000													17	45					0	0	0.008871	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671906	77671906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr13:77671906G>A	ENST00000407578.2	-	56	9649	c.9383C>T	c.(9382-9384)cCt>cTt	p.P3128L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.P3090L|MYCBP2_ENST00000544440.2_Missense_Mutation_p.P3090L|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3090					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCATGCAGAGGTGGTTCCTT	0.388000													30	62					0	0	0.002096	0	0
CCDC54	84692	broad.mit.edu	37	3	107097085	107097085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:107097085G>A	ENST00000261058.1	+	1	898	c.651G>A	c.(649-651)atG>atA	p.M217I		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	217								p.M217I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTCCCCAAATGAAAACTCTGA	0.393000													23	21					0	0	0.002299	0	0
SEPHS1	22929	broad.mit.edu	37	10	13380726	13380726	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:13380726G>A	ENST00000327347.5	-	3	651	c.276C>T	c.(274-276)atC>atT	p.I92I	SEPHS1_ENST00000378614.4_Silent_p.I92I|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000545675.1_Silent_p.I92I|SEPHS1_ENST00000537130.1_Silent_p.I25I	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	92					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						GGTCGTCTACGATCGGGTAAA	0.463000													23	92					0	0	0.002780	0	0
RNF213	57674	broad.mit.edu	37	17	78358865	78358865	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:78358865C>A	ENST00000582970.1	+	60	14492	c.14349C>A	c.(14347-14349)ttC>ttA	p.F4783L	CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.F4832L|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.F2856L|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGTAAAGTTCCTGCCTGAGA	0.453000													23	45					1.64293e-13	1.83209e-13	0.003330	1	0
TULP1	7287	broad.mit.edu	37	6	35473911	35473911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:35473911C>T	ENST00000229771.6	-	10	947	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	TULP1_ENST00000322263.4_Missense_Mutation_p.E237K	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	290					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCCGGGGTTCGTCCACCTCC	0.697000													20	39					0	0	0.002780	0	0
DENND1A	57706	broad.mit.edu	37	9	126144301	126144301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:126144301G>A	ENST00000373624.2	-	22	2641	c.2440C>T	c.(2440-2442)Caa>Taa	p.Q814*	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.Q825*|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.Q599*	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	814	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAGCTGAATTGGGGGGTGAAT	0.682000													10	3					0	0	0.008291	0	0
OR2A2	442361	broad.mit.edu	37	7	143806807	143806807	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:143806807C>T	ENST00000408979.2	+	1	201	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I44I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATGGGGTCATCTTTGGGATTA	0.507000													71	118					0	0	0.003610	0	0
PHKA1	5255	broad.mit.edu	37	X	71804146	71804146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:71804146C>T	ENST00000373545.3	-	30	3562	c.3124G>A	c.(3124-3126)Gga>Aga	p.G1042R	PHKA1_ENST00000373542.4_Missense_Mutation_p.G1084R|PHKA1_ENST00000339490.3_Missense_Mutation_p.G1071R|PHKA1_ENST00000541944.1_Missense_Mutation_p.G1012R|PHKA1_ENST00000373539.3_Missense_Mutation_p.G1101R			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1084					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACAGAAAGTCCGTGACACTGC	0.418000													25	8					0	0	0.005443	0	0
AANAT	15	broad.mit.edu	37	17	74464865	74464865	+	Missense_Mutation	SNP	G	G	A	rs139841386	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:74464865G>A	ENST00000250615.3	+	5	1179	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	AANAT_ENST00000392492.3_Missense_Mutation_p.A13T	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	13	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						GAAACCTGAGGCCCCACGTCT	0.662000													11	11					0	0	0.001855	0	0
XPOT	11260	broad.mit.edu	37	12	64828638	64828638	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:64828638C>T	ENST00000332707.5	+	21	3163	c.2634C>T	c.(2632-2634)ttC>ttT	p.F878F		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	878	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CCGCATGTTTCCTAGCACCTT	0.378000													33	63					0	0	0.006230	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54628550	54628550	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:54628550G>C	ENST00000355221.3	-	13	1931	c.1372C>G	c.(1372-1374)Ccc>Gcc	p.P458A	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.P476A|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.P436A|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.P476A|ATP6V1H_ENST00000523899.1_5'UTR	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	476					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GCGGTCTGGGGCTGCTCGGAC	0.493000													20	29					0	0	0.001882	0	0
COL11A2	1302	broad.mit.edu	37	6	33157208	33157208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:33157208G>A	ENST00000341947.2	-	2	348	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	COL11A2_ENST00000374713.1_Missense_Mutation_p.P41S|COL11A2_ENST00000374712.1_Missense_Mutation_p.P41S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P41S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P41S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P41S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P41S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P41S|COL11A2_ENST00000395194.1_Missense_Mutation_p.P41S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	41	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGAGGGAGGGGAACCTCAGG	0.617000													28	41					0	0	0.007291	0	0
PGM2L1	283209	broad.mit.edu	37	11	74053589	74053589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:74053589G>A	ENST00000298198.4	-	12	1860	c.1549C>T	c.(1549-1551)Cca>Tca	p.P517S		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	517					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CAAAATTTTGGATATTCTTTT	0.323000													58	30					0	0	0.003610	0	0
CPE	1363	broad.mit.edu	37	4	166388870	166388870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:166388870C>T	ENST00000402744.4	+	3	815	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	179					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTGTGGGTCGAAGCAATGC	0.388000													11	32					0	0	0.000978	0	0
MAPK10	5602	broad.mit.edu	37	4	87023061	87023061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:87023061C>T	ENST00000395169.3	-	7	1156	c.436G>A	c.(436-438)Gga>Aga	p.G146R	MAPK10_ENST00000361569.2_Missense_Mutation_p.G184R|MAPK10_ENST00000449047.2_Missense_Mutation_p.G39R|MAPK10_ENST00000395160.3_Missense_Mutation_p.G39R|MAPK10_ENST00000359221.3_Missense_Mutation_p.G184R|MAPK10_ENST00000395161.2_Missense_Mutation_p.G184R|MAPK10_ENST00000395157.3_Missense_Mutation_p.G39R|MAPK10_ENST00000395166.1_Missense_Mutation_p.G146R	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	184	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TGAATAATTCCAGCAGAATGG	0.398000													34	83					0	0	0.002096	0	0
PIWIL1	9271	broad.mit.edu	37	12	130830393	130830393	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:130830393A>C	ENST00000245255.3	+	4	558	c.286A>C	c.(286-288)Aac>Cac	p.N96H		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	96					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TACAAGGCAGAACCTAGACCA	0.393000													18	38					0	0	0.008871	0	0
LTB4R2	56413	broad.mit.edu	37	14	24780543	24780543	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:24780543C>T	ENST00000528054.1	+	1	2383	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	CIDEB_ENST00000336557.5_5'UTR|LTB4R2_ENST00000543919.1_Silent_p.L225L|CIDEB_ENST00000555817.1_5'UTR|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000533293.1_Silent_p.L225L			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	256					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		ggtgggccggcTGGTGAGCGC	0.731000													8	7					0	0	0.003080	0	0
SH3BP1	23616	broad.mit.edu	37	22	38049819	38049819	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:38049819C>T	ENST00000599616.1	+	15	1440	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Silent_p.S544S			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	544					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GACCAGCCTCCCCCAAGGTCA	0.632000													14	23					0	0	0.004007	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211350	50211350	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:50211350C>T	ENST00000002829.3	+	3	721	c.237C>T	c.(235-237)tcC>tcT	p.S79S	SEMA3F_ENST00000413852.1_Silent_p.S11S|SEMA3F_ENST00000434342.1_Silent_p.S79S	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	79	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		ACGTGCTGTCCCTGGACCTGC	0.607000													23	40					0	0	0.001882	0	0
GXYLT1	283464	broad.mit.edu	37	12	42481745	42481745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:42481745G>A	ENST00000398675.3	-	8	1398	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	GXYLT1_ENST00000280876.6_Missense_Mutation_p.S358F	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	389					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						ATCTTCAAAAGAACACTAGAG	0.254000													16	31					0	0	0.006122	0	0
SDPR	8436	broad.mit.edu	37	2	192701381	192701381	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:192701381C>T	ENST00000304141.4	-	2	875	c.546G>A	c.(544-546)ggG>ggA	p.G182G		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	182						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCTCCTCCTTCCCTTCCACGG	0.522000													9	42					0	0	0.008291	0	0
UBA1	7317	broad.mit.edu	37	X	47065792	47065792	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:47065792C>T	ENST00000335972.6	+	16	2070	c.1887C>T	c.(1885-1887)atC>atT	p.I629I	UBA1_ENST00000377351.4_Silent_p.I629I|UBA1_ENST00000490869.1_3'UTR	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	629					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAAGTCCATCCCCATCTGTA	0.572000													23	8					0	0	0.006320	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18573894	18573894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:18573894C>T	ENST00000433979.1	+	16	2328	c.2212C>T	c.(2212-2214)Cgt>Tgt	p.R738C	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R738C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R779C	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	738					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCAAGAAATTCGTAAAGTGGC	0.363000													27	54					0	0	0.007291	0	0
P2RY2	5029	broad.mit.edu	37	11	72946081	72946081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:72946081C>T	ENST00000311131.2	+	3	1344	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S	P2RY2_ENST00000393597.2_Missense_Mutation_p.P293S|P2RY2_ENST00000393596.2_Missense_Mutation_p.P293S	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	293					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGTTACCCGGCCGCTGGCCAG	0.627000													15	9					0	0	0.003163	0	0
MUC17	140453	broad.mit.edu	37	7	100686443	100686443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100686443C>T	ENST00000306151.4	+	3	11810	c.11746C>T	c.(11746-11748)Ccc>Tcc	p.P3916S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3916						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCCTCAACTCCCACAATTCC	0.498000													52	80					0	0	0.003610	0	0
AKR1C3	8644	broad.mit.edu	37	10	5144305	5144305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:5144305C>T	ENST00000380554.3	+	6	1235	c.583C>T	c.(583-585)Ccg>Tcg	p.P195S	AKR1C3_ENST00000605149.1_Missense_Mutation_p.P172S|AKR1C3_ENST00000439082.2_Missense_Mutation_p.P76S	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	195					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	AGAATGTCATCCGTATTTCAA	0.358000													18	38					0	0	0.001523	0	0
ITGA1	3672	broad.mit.edu	37	5	52229771	52229771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:52229771C>T	ENST00000282588.6	+	23	3367	c.2909C>T	c.(2908-2910)cCt>cTt	p.P970L	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	970					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGACAGTCCCTGAAGTTATT	0.274000													21	38					0	0	0.001786	0	0
MYH6	4624	broad.mit.edu	37	14	23866401	23866401	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:23866401G>A	ENST00000405093.3	-	17	2098	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	MYH6_ENST00000356287.3_Silent_p.I676I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	676	Actin-binding.|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)		GCTCATTGGGGATGATGCAAC	0.552000													53	120					0	0	0.003610	0	0
WNK1	65125	broad.mit.edu	37	12	977792	977792	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:977792T>C	ENST00000537687.1	+	9	3543	c.2900T>C	c.(2899-2901)tTt>tCt	p.F967S	WNK1_ENST00000530271.2_Missense_Mutation_p.F1052S|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.F266S|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AACTGTGTATTTGAATTTCAT	0.438000													16	22					0	0	0.007413	0	0
AHDC1	27245	broad.mit.edu	37	1	27878454	27878454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:27878454G>A	ENST00000374011.2	-	6	1141	c.173C>T	c.(172-174)tCc>tTc	p.S58F	AHDC1_ENST00000247087.5_Missense_Mutation_p.S58F|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	58	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGGTTCTCGGAGAAGGCGTG	0.756000													8	15					0	0	0.003080	0	0
CCDC147	159686	broad.mit.edu	37	10	106152114	106152114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:106152114G>A	ENST00000369704.3	+	10	1623	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	497										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGTGAGATCAGACAGAAATCT	0.299000													47	51					0	0	0.003610	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10866644	10866644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:10866644C>T	ENST00000381661.3	+	3	255	c.146C>T	c.(145-147)tCc>tTc	p.S49F	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.S49F	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	49					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ACCTTGGATTCCCTGGTTGGC	0.458000													10	51					0	0	0.001368	0	0
OR51I2	390064	broad.mit.edu	37	11	5474883	5474883	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:5474883C>T	ENST00000341449.2	+	1	246	c.165C>T	c.(163-165)ctC>ctT	p.L55L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCCAGCCTCCATGAGCCCA	0.572000													36	60					0	0	0.004878	0	0
ZNF436	80818	broad.mit.edu	37	1	23688594	23688594	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:23688594G>A	ENST00000314011.4	-	4	1417	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	ZNF436_ENST00000374608.3_Silent_p.F427F|ZNF436_ENST00000374609.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCTCTGGGTGAAACCTTTCC	0.483000													52	82					0	0	0.003610	0	0
CDH4	1002	broad.mit.edu	37	20	60427927	60427927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:60427927G>A	ENST00000360469.5	+	6	938	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	CDH4_ENST00000543233.1_Missense_Mutation_p.G210S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	284	Cadherin 2.			G -> C (in Ref. 1; AAA35627).	adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGTCTACAACGGCTCCGTGGA	0.587000													56	100					0	0	0.003610	0	0
DSG3	1830	broad.mit.edu	37	18	29045359	29045359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:29045359G>A	ENST00000257189.4	+	10	1433	c.1350G>A	c.(1348-1350)atG>atA	p.M450I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	450	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAAAAATATGAACCGAGATT	0.313000													15	52					0	0	0.002450	0	0
AK7	122481	broad.mit.edu	37	14	96916185	96916185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:96916185G>A	ENST00000267584.4	+	9	961	c.917G>A	c.(916-918)aGa>aAa	p.R306K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	306					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AAAATACCCAGAGAAAATGCA	0.313000													7	19					0	0	0.001984	0	0
MEGF8	1954	broad.mit.edu	37	19	42880018	42880018	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:42880018C>T	ENST00000334370.4	+	41	8063	c.7428C>T	c.(7426-7428)ccC>ccT	p.P2476P	MEGF8_ENST00000251268.6_Silent_p.P2543P|MEGF8_ENST00000378073.4_Silent_p.P137P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2543						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATGGTGGGCCCCGGGGGGCTG	0.706000													12	10					0	0	0.001368	0	0
SLC25A24	29957	broad.mit.edu	37	1	108700165	108700165	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:108700165C>T	ENST00000565488.1	-	5	807	c.588G>A	c.(586-588)agG>agA	p.R196R	SLC25A24_ENST00000370041.4_Silent_p.R177R	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	196					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCAAAAGCTGCCTCCACCATT	0.443000													14	77					0	0	0.002450	0	0
SETD2	29072	broad.mit.edu	37	3	47158225	47158225	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:47158225G>A	ENST00000409792.3	-	4	4516	c.4474C>T	c.(4474-4476)Cga>Tga	p.R1492*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R989*(2)|p.R1492*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTAATATCTCGATGAGATTTA	0.313000			"""N, F, S, Mis"""		clear cell renal carcinoma								22	36					0	0	0.002299	0	0
TSIX	9383	broad.mit.edu	37	X	73045886	73045886	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:73045886C>T	ENST00000604411.1	+	0	33847				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTCGCTTTGTCCCAGGCACAG	0.517000													83	23					0	0	0.003610	0	0
ANKRD35	148741	broad.mit.edu	37	1	145555774	145555774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:145555774C>T	ENST00000355594.4	+	2	209	c.122C>T	c.(121-123)tCc>tTc	p.S41F	ANKRD35_ENST00000544626.1_Missense_Mutation_p.S41F	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	41										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGGCCTCCAGGAAATCT	0.622000													12	32					0	0	0.001855	0	0
OR8H1	219469	broad.mit.edu	37	11	56057983	56057983	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:56057983G>A	ENST00000313022.2	-	1	583	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATGCAGGACAGAGCTAAAATT	0.428000													9	48					0	0	0.008291	0	0
ZNF430	80264	broad.mit.edu	37	19	21239839	21239839	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:21239839T>A	ENST00000261560.5	+	5	906	c.725T>A	c.(724-726)tTt>tAt	p.F242Y		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GGTAAAGTCTTTAACTGGTTC	0.358000													17	30					0	0	0.004007	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136409658	136409658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:136409658C>T	ENST00000393061.3	+	8	1508	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.S250F|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.S250F			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	250					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		AGGAAGAAGTCCGCTGACGTG	0.582000													25	31					0	0	0.003954	0	0
OR3A3	8392	broad.mit.edu	37	17	3324814	3324814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:3324814G>A	ENST00000291231.1	+	1	953	c.953G>A	c.(952-954)cGa>cAa	p.R318Q		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GTGGGGAAGCGATCACTGACC	0.453000													39	28					0	0	0.008740	0	0
CCSER2	54462	broad.mit.edu	37	10	86131045	86131045	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:86131045C>T	ENST00000224756.8	+	2	422	c.237C>T	c.(235-237)gtC>gtT	p.V79V	CCSER2_ENST00000359979.4_Silent_p.V79V|CCSER2_ENST00000372088.2_Silent_p.V79V	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		CACAAGGTGTCGAAGAGCCTA	0.333000													10	23					0	0	0.006214	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30101626	30101626	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:30101626C>T	ENST00000449726.1	+	11	1562	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A	PLEKHA8_ENST00000396257.2_Silent_p.A404A|PLEKHA8_ENST00000396259.1_Silent_p.A404A|PLEKHA8_ENST00000258679.7_Silent_p.A404A	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	404					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CGACTGAAGCCCTCTTGTGGC	0.453000											OREG0017934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	41					0	0	0.001523	0	0
DNAH11	8701	broad.mit.edu	37	7	21913052	21913052	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:21913052A>G	ENST00000328843.6	+	75	12180	c.12149A>G	c.(12148-12150)aAg>aGg	p.K4050R	DNAH11_ENST00000409508.3_Missense_Mutation_p.K4043R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4050	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATTCCATTAAGATCACTAAT	0.478000									Kartagener syndrome				26	46					0	0	0.006320	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626399	44626399	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:44626399C>T	ENST00000576629.1	+	10	4389	c.3894C>T	c.(3892-3894)atC>atT	p.I1298I	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Silent_p.I1298I|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1298						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CTAAACCAATCGTACATGCCA	0.418000													37	179					0	0	0.003610	0	0
PRF1	5551	broad.mit.edu	37	10	72358730	72358730	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:72358730G>A	ENST00000441259.1	-	3	907	c.747C>T	c.(745-747)ctC>ctT	p.L249L	PRF1_ENST00000373209.2_Silent_p.L249L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	249	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CGTTGTCCGTGAGCCCTTCCA	0.637000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				29	30					0	0	0.002096	0	0
RECQL4	9401	broad.mit.edu	37	8	145741611	145741611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:145741611G>A	ENST00000428558.2	-	5	933	c.892C>T	c.(892-894)Cct>Tct	p.P298S	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	298					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCCCCTGGAGGGTCTTCCTCA	0.662000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				16	31					0	0	0.004990	0	0
HSPA6	3310	broad.mit.edu	37	1	161495086	161495086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:161495086C>T	ENST00000309758.4	+	1	1051	c.638C>T	c.(637-639)tCc>tTc	p.S213F		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	213					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCGGTTCTCTCCATTGACGCT	0.597000													15	32					0	0	0.006122	0	0
C4orf26	152816	broad.mit.edu	37	4	76489606	76489606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:76489606C>T	ENST00000311623.4	+	2	385	c.350C>T	c.(349-351)cCc>cTc	p.P117L	C4orf26_ENST00000435974.2_Missense_Mutation_p.P132S	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	117						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTATTTCCCCAGAAGAAGA	0.433000													84	151					0	0	0.003610	0	0
C8A	731	broad.mit.edu	37	1	57347273	57347273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:57347273G>A	ENST00000361249.3	+	5	716	c.620G>A	c.(619-621)cGg>cAg	p.R207Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	207	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAATACTTTCGGAAACCCTAC	0.498000													30	47					0	0	0.001786	0	0
TRMT44	152992	broad.mit.edu	37	4	8469918	8469918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:8469918C>T	ENST00000389737.4	+	9	1772	c.1772C>T	c.(1771-1773)cCc>cTc	p.P591L	TRMT44_ENST00000513449.2_Missense_Mutation_p.P350L	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		GGATTTCATCCCAGAGAAAAG	0.567000													14	33					0	0	0.001855	0	0
PDE11A	50940	broad.mit.edu	37	2	178936654	178936654	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:178936654T>C	ENST00000286063.5	-	1	828	c.511A>G	c.(511-513)Att>Gtt	p.I171V	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	171					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCACTGAGAATATGGGCTGTG	0.567000									Primary Pigmented Nodular Adrenocortical Disease, Familial				27	27					0	0	0.005443	0	0
RPTOR	57521	broad.mit.edu	37	17	78858875	78858875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:78858875C>T	ENST00000306801.3	+	17	2272	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	637					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ACGGACCACTCCACCACCATC	0.682000													10	9					0	0	0.000978	0	0
BRD3	8019	broad.mit.edu	37	9	136901263	136901263	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:136901263G>A	ENST00000303407.7	-	10	2012	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	609						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGTCGGGGTTGGAGTCCCTGA	0.532000			T	C15orf55	lethal midline carcinoma of young people								32	17					0	0	0.002445	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94913329	94913329	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:94913329G>A	ENST00000289495.5	+	15	3392		c.e15-1		PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433360.1_Splice_Site|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000456331.2_Splice_Site|PPP1R9A_ENST00000424654.1_Splice_Site	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A							cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCACAAAACAGGATCTTCAGA	0.433000										HNSCC(28;0.073)			13	29					0	0	0.001855	0	0
DNAH5	1767	broad.mit.edu	37	5	13871769	13871769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:13871769C>T	ENST00000265104.4	-	23	3606	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1168	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1168K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTCAAATTCAGAAAGCAAG	0.403000									Kartagener syndrome				25	36					0	0	0.002780	0	0
PARP6	56965	broad.mit.edu	37	15	72543556	72543556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:72543556G>A	ENST00000569795.1	-	17	1987	c.1300C>T	c.(1300-1302)Ctc>Ttc	p.L434F	PARP6_ENST00000287196.9_Missense_Mutation_p.L434F|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.L434F			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	434	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ACCCTGCTGAGAGGTAGTTTG	0.413000													41	55					0	0	0.003610	0	0
C1S	716	broad.mit.edu	37	12	7171668	7171668	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:7171668C>T	ENST00000406697.1	+	8	1117	c.489C>T	c.(487-489)ttC>ttT	p.F163F	C1S_ENST00000360817.5_Silent_p.F163F|C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Silent_p.F163F			P09871	C1S_HUMAN	complement component 1, s subcomponent	163	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CGGAATATTTCCTCCATGATG	0.463000													38	54					0	0	0.006999	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841876	8841876	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:8841876C>T	ENST00000324060.2	+	1	561	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGACCTCCATCACCCTGCATT	0.552000													68	87					0	0	0.003610	0	0
MUC7	4589	broad.mit.edu	37	4	71346720	71346720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:71346720C>T	ENST00000413702.1	+	4	547	c.259C>T	c.(259-261)Cct>Tct	p.P87S	MUC7_ENST00000304887.5_Missense_Mutation_p.P87S|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.P87S	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	87						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ATTCCCAAATCCTCACCAGCC	0.458000													35	48					0	0	0.002445	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260137	90260137	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:90260137C>T	ENST00000471857.1	+	0	421																											AAAGTGGGGTCCCATCAAGGT	0.468000													24	96					0	0	0.003954	0	0
HTR3B	9177	broad.mit.edu	37	11	113816638	113816638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:113816638G>A	ENST00000260191.2	+	9	1362	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R	HTR3B_ENST00000537778.1_Missense_Mutation_p.G358R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	369					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CTCGCTGTATGGAGAGCACCT	0.547000													9	25					0	0	0.004482	0	0
MYO1A	4640	broad.mit.edu	37	12	57441875	57441875	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:57441875T>A	ENST00000442789.2	-	4	415	c.128A>T	c.(127-129)aAt>aTt	p.N43I	MYO1A_ENST00000300119.3_Missense_Mutation_p.N43I	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	43	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GATCACCACATTCCCAATGTA	0.502000													20	35					0	0	0.002780	0	0
XIRP2	129446	broad.mit.edu	37	2	168104646	168104646	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:168104646G>A	ENST00000409195.1	+	9	6833	c.6744G>A	c.(6742-6744)ttG>ttA	p.L2248L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2026L|XIRP2_ENST00000295237.9_Silent_p.L2248L|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2073					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGTTCACTTGAAAAGCCAGG	0.368000													9	18					0	0	0.004482	0	0
CCDC147	159686	broad.mit.edu	37	10	106214279	106214279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:106214279G>A	ENST00000369704.3	+	18	2744	c.2610G>A	c.(2608-2610)atG>atA	p.M870I		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	870										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CAACCAAAATGACGTTCTAAC	0.458000													20	63					0	0	0.007413	0	0
COG7	91949	broad.mit.edu	37	16	23428399	23428399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:23428399G>A	ENST00000307149.5	-	9	1366	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	394					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CTTGTTCACGGAGTGGCTCAG	0.532000													14	32					0	0	0.003163	0	0
DNAAF1	123872	broad.mit.edu	37	16	84193376	84193376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:84193376G>A	ENST00000378553.5	+	6	962	c.838G>A	c.(838-840)Gat>Aat	p.D280N	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.D280N	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	280	LRRCT.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ATACCTGGATGATAGACCAGT	0.368000													9	36					0	0	0.000978	0	0
HPSE2	60495	broad.mit.edu	37	10	100249824	100249824	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:100249824A>G	ENST00000370552.3	-	10	1509	c.1450T>C	c.(1450-1452)Tgc>Cgc	p.C484R	HPSE2_ENST00000370546.1_Missense_Mutation_p.C484R|HPSE2_ENST00000370549.1_Missense_Mutation_p.C426R|HPSE2_ENST00000404542.1_Missense_Mutation_p.C372R	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	484					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TGGTTTGTGCAGTGAGCATAA	0.567000													28	119					0	0	0.001786	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48226561	48226561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:48226561C>T	ENST00000316878.6	-	3	1314	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	438	Interacts with protein phosphatase 1 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						GGGTCCTCCTCCTCCGACAGC	0.716000													9	4					0	0	0.008291	0	0
KIF18B	146909	broad.mit.edu	37	17	43011361	43011361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:43011361G>A	ENST00000587309.1	-	7	1015	c.992C>T	c.(991-993)tCc>tTc	p.S331F	KIF18B_ENST00000339151.4_Missense_Mutation_p.S331F|KIF18B_ENST00000590129.1_Missense_Mutation_p.S340F|KIF18B_ENST00000438933.2_Missense_Mutation_p.S331F|KIF18B_ENST00000593135.1_Missense_Mutation_p.S331F	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGTCAGGCTGGAGGGGCTGAT	0.632000													6	21					0	0	0.001168	0	0
AFM	173	broad.mit.edu	37	4	74357600	74357600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:74357600G>A	ENST00000226355.3	+	8	948	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	285	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAAGGTTATGAACCATATTT	0.373000													27	66					0	0	0.002096	0	0
ARMC4	55130	broad.mit.edu	37	10	28223958	28223958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:28223958C>T	ENST00000305242.5	-	16	2568	c.2476G>A	c.(2476-2478)Gta>Ata	p.V826I	ARMC4_ENST00000545014.1_Missense_Mutation_p.V351I|ARMC4_ENST00000537576.1_Missense_Mutation_p.V518I	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	826							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCAGGTTCTACTGCACAAGCA	0.423000													43	54					0	0	0.002852	0	0
HECTD3	79654	broad.mit.edu	37	1	45469358	45469358	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:45469358G>A	ENST00000372172.4	-	20	2555	c.2484C>T	c.(2482-2484)ttC>ttT	p.F828F	HECTD3_ENST00000372168.3_Silent_p.F438F|HECTD3_ENST00000486132.1_5'UTR	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	828	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AGTGTGGCAGGAAGAGGGTGC	0.602000													28	80					0	0	0.002445	0	0
OR8B4	283162	broad.mit.edu	37	11	124294171	124294171	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:124294171G>A	ENST00000356130.3	-	1	618	c.597C>T	c.(595-597)ttC>ttT	p.F199F		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAACAACAATGAAAAATACCA	0.473000													6	6					0	0	0.001168	0	0
SEC31B	25956	broad.mit.edu	37	10	102267248	102267248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:102267248G>A	ENST00000370345.3	-	7	813	c.716C>T	c.(715-717)cCc>cTc	p.P239L	NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000370329.5_Missense_Mutation_p.P242L|NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000451524.1_Missense_Mutation_p.P239L|SEC31B_ENST00000535773.1_Missense_Mutation_p.P82L	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	239					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTGAATCACGGGAAGTCGATC	0.562000													17	66					0	0	0.006122	0	0
TKTL2	84076	broad.mit.edu	37	4	164393863	164393863	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:164393863G>A	ENST00000280605.3	-	1	1184	c.1024C>T	c.(1024-1026)Ctg>Ttg	p.L342L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	342						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCACCACTCAGaacaataact	0.428000													40	62					0	0	0.002222	0	0
TFPI	7035	broad.mit.edu	37	2	188349701	188349701	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:188349701G>A	ENST00000233156.3	-	5	666	c.372C>T	c.(370-372)ttC>ttT	p.F124F	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000409676.1_Silent_p.F124F|TFPI_ENST00000392365.1_Silent_p.F124F|TFPI_ENST00000339091.4_Silent_p.F124F	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	124					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CCAAAAAGCAGAAATCTGGCT	0.289000													7	28					0	0	0.004482	0	0
MYH13	8735	broad.mit.edu	37	17	10224979	10224979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10224979G>A	ENST00000418404.3	-	23	3144	c.2981C>T	c.(2980-2982)tCc>tTc	p.S994F	MYH13_ENST00000252172.4_Missense_Mutation_p.S994F|MYH13_ENST00000570743.1_Missense_Mutation_p.S994F|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	994					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGTCAATTTGGAAATGTTTTC	0.373000													23	13					0	0	0.002299	0	0
FAM86EP	348926	broad.mit.edu	37	4	3948364	3948364	+	RNA	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:3948364C>T	ENST00000313946.8	-	0	1232																											GGCCTCTGCCCGAGTTCCCCG	0.652000													5	3					0	0	0.000602	0	0
TP63	8626	broad.mit.edu	37	3	189586470	189586470	+	Missense_Mutation	SNP	C	C	T	rs147148566		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:189586470C>T	ENST00000264731.3	+	8	1183	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L	TP63_ENST00000449992.1_Missense_Mutation_p.S186L|TP63_ENST00000418709.2_Missense_Mutation_p.S365L|TP63_ENST00000437221.1_Missense_Mutation_p.S271L|TP63_ENST00000320472.5_Missense_Mutation_p.S365L|TP63_ENST00000392463.2_Missense_Mutation_p.S271L|TP63_ENST00000354600.5_Missense_Mutation_p.S271L|TP63_ENST00000382063.4_Missense_Mutation_p.S280L|TP63_ENST00000392461.3_Missense_Mutation_p.S271L|TP63_ENST00000392460.3_Missense_Mutation_p.S365L|TP63_ENST00000440651.2_Missense_Mutation_p.S365L|TP63_ENST00000456148.1_Missense_Mutation_p.S271L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	365	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S365L(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAGCAAGTTTCGGACAGTACA	0.537000										HNSCC(45;0.13)			19	50					0	0	0.007413	0	0
HYDIN	54768	broad.mit.edu	37	16	70916787	70916787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr16:70916787C>T	ENST00000393567.2	-	60	10141	c.9991G>A	c.(9991-9993)Gaa>Aaa	p.E3331K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3331										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCATTGTTTTCGGTCACGAAG	0.512000													32	30					0	0	0.002852	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399643	47399643	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:47399643G>A	ENST00000310638.4	-	9	1228	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	CYP4A11_ENST00000371905.1_Silent_p.F399F|CYP4A11_ENST00000371904.4_Silent_p.F400F|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_3'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	399					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCCATCAGGGAAGGTGACGG	0.577000													24	31					0	0	0.006320	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151214659	151214659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:151214659C>T	ENST00000409426.1	+	12	1833	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	PIP5K1A_ENST00000368890.4_Intron|PIP5K1A_ENST00000414290.2_Intron|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.S475F|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.S435F			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	475					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGAGCAGGCTCCAGTGGCAAC	0.522000													73	127					0	0	0.003610	0	0
WNK1	65125	broad.mit.edu	37	12	977790	977790	+	Silent	SNP	A	A	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr12:977790A>T	ENST00000537687.1	+	9	3541	c.2898A>T	c.(2896-2898)gtA>gtT	p.V966V	WNK1_ENST00000530271.2_Silent_p.V1051V|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000574564.1_Silent_p.V265V|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCAACTGTGTATTTGAATTTC	0.443000													17	23					0	0	0.008871	0	0
IRAK2	3656	broad.mit.edu	37	3	10268076	10268076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:10268076G>A	ENST00000256458.4	+	10	1321	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	411	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGTCCTCACGGGCATCCCTGC	0.537000													13	28					0	0	0.006122	0	0
COL13A1	1305	broad.mit.edu	37	10	71682509	71682509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:71682509G>A	ENST00000356340.3	+	21	1692	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	COL13A1_ENST00000517713.1_Missense_Mutation_p.E364K|COL13A1_ENST00000520267.1_Missense_Mutation_p.E329K|COL13A1_ENST00000520133.1_Missense_Mutation_p.E335K|COL13A1_ENST00000354547.3_Missense_Mutation_p.E364K|COL13A1_ENST00000398972.3_Missense_Mutation_p.E386K|COL13A1_ENST00000522165.1_Missense_Mutation_p.E367K|COL13A1_ENST00000398969.3_Missense_Mutation_p.E329K|COL13A1_ENST00000398973.3_Missense_Mutation_p.E386K|COL13A1_ENST00000398978.3_Missense_Mutation_p.E386K|COL13A1_ENST00000398974.3_Missense_Mutation_p.E374K|COL13A1_ENST00000398964.3_Missense_Mutation_p.E357K|COL13A1_ENST00000398968.3_Missense_Mutation_p.E367K|COL13A1_ENST00000398971.3_Missense_Mutation_p.E386K|COL13A1_ENST00000357811.3_Missense_Mutation_p.E364K|COL13A1_ENST00000398966.3_Missense_Mutation_p.E364K			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	386	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGCAGAGGGGAACCTGGCCC	0.612000													4	6					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179616458	179616458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:179616458C>T	ENST00000360870.5	-	46	10891	c.10669G>A	c.(10669-10671)Gat>Aat	p.D3557N	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3556	Ig-like 21.						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)			TGGTGTAAATCACTCTCAGCT	0.408000													35	48					0	0	0.003755	0	0
YLPM1	56252	broad.mit.edu	37	14	75247117	75247117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:75247117C>T	ENST00000325680.7	+	3	1244	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S	YLPM1_ENST00000238571.3_Missense_Mutation_p.P374S|YLPM1_ENST00000552421.1_Missense_Mutation_p.P374S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTCTGAGGACCCAGAAGAAGA	0.418000													39	98					0	0	0.006230	0	0
TBC1D2	55357	broad.mit.edu	37	9	100971310	100971310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:100971310G>A	ENST00000375066.5	-	9	1881	c.1790C>T	c.(1789-1791)gCt>gTt	p.A597V	TBC1D2_ENST00000375063.1_Missense_Mutation_p.A137V|TBC1D2_ENST00000375064.1_Missense_Mutation_p.A597V|TBC1D2_ENST00000342112.5_Missense_Mutation_p.A379V|TBC1D2_ENST00000493589.2_5'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	597						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCGATCCACAGCCTCGAGGCC	0.647000													84	45					0	0	0.003610	0	0
CHRNA2	1135	broad.mit.edu	37	8	27319183	27319183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:27319183C>T	ENST00000407991.1	-	7	2161	c.1553G>A	c.(1552-1554)gGc>gAc	p.G518D	CHRNA2_ENST00000520933.2_Missense_Mutation_p.G518D|CHRNA2_ENST00000240132.2_Missense_Mutation_p.G503D	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	518						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CAGAAAGAGGCCGATGGTCCC	0.567000													37	75					0	0	0.006999	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187798	42187798	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:42187798C>T	ENST00000006724.3	-	3	825	c.624G>A	c.(622-624)aaG>aaA	p.K208K	CEACAM7_ENST00000401731.1_Silent_p.K208K|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	208	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CTATGTCATTCTTTGTGGCGC	0.537000													50	103					0	0	0.003610	0	0
KCNH5	27133	broad.mit.edu	37	14	63174777	63174777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:63174777C>T	ENST00000322893.7	-	11	2684	c.2416G>A	c.(2416-2418)Gga>Aga	p.G806R	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	806					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTCCATTTCCATTCTTCATT	0.458000													36	94					0	0	0.004289	0	0
BLID	414899	broad.mit.edu	37	11	121986447	121986447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr11:121986447C>T	ENST00000560104.1	-	1	476	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	62					apoptosis	mitochondrion				NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		AGCACTGTTTCCTTAGGCAAC	0.488000											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	38					0	0	0.003610	0	0
APC	324	broad.mit.edu	37	5	112154986	112154986	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:112154986C>T	ENST00000457016.1	+	10	1637	c.1257C>T	c.(1255-1257)acC>acT	p.T419T	APC_ENST00000257430.4_Silent_p.T419T|APC_ENST00000508376.2_Silent_p.T419T			P25054	APC_HUMAN	adenomatous polyposis coli	419	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACTGTGAAACCTGTTGGGAGT	0.463000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			13	48					0	0	0.001855	0	0
RASAL2	9462	broad.mit.edu	37	1	178410699	178410699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:178410699G>A	ENST00000448150.3	+	7	1608	c.790G>A	c.(790-792)Gga>Aga	p.G264R	RASAL2_ENST00000367649.3_Missense_Mutation_p.G282R|RASAL2_ENST00000462775.1_Missense_Mutation_p.G134R	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	134	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTACTTAAGTGGAAGTAAATG	0.388000													18	25					0	0	0.008871	0	0
DNAH8	1769	broad.mit.edu	37	6	38877410	38877410	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:38877410C>T	ENST00000359357.3	+	63	9233	c.8979C>T	c.(8977-8979)ttC>ttT	p.F2993F	DNAH8_ENST00000449981.2_Silent_p.F3210F|DNAH8_ENST00000441566.1_Silent_p.F2957F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTCCTACTTCCTTTCAGACT	0.448000													36	53					0	0	0.005524	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090685	22090685	+	RNA	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr14:22090685G>A	ENST00000542354.1	+	0	357																											AGCTCCAGATGAAAGACTCTG	0.458000													27	38					0	0	0.003954	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:22369378C>T	ENST00000332663.2	+	1	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTCGTTTTCCCTAGATAAA	0.423000													27	52					0	0	0.005443	0	0
PCDH18	54510	broad.mit.edu	37	4	138449706	138449706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:138449706C>T	ENST00000344876.4	-	3	3052	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q	PCDH18_ENST00000412923.2_Missense_Mutation_p.R888Q|PCDH18_ENST00000510305.1_Missense_Mutation_p.R100Q|PCDH18_ENST00000507846.1_Missense_Mutation_p.R668Q|PCDH18_ENST00000511115.1_Missense_Mutation_p.R69Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	889					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGAGAATCTCGCCCCAAATC	0.448000													48	242					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9008193	9008193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9008193C>T	ENST00000397910.4	-	41	39562	c.39359G>A	c.(39358-39360)cGg>cAg	p.R13120Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13122	SEA 7.				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						GAGACTGTTCCGGTCCAGGGT	0.542000													75	129					0	0	0.003610	0	0
KEAP1	9817	broad.mit.edu	37	19	10600376	10600376	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:10600376C>T	ENST00000171111.5	-	4	2026	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	KEAP1_ENST00000393623.2_Silent_p.E493E	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.E493D(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ACTCGTTCCTCTCTGGGTAGT	0.597000													35	66					0	0	0.006230	0	0
MXRA5	25878	broad.mit.edu	37	X	3228224	3228224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chrX:3228224G>A	ENST00000217939.6	-	7	8174	c.8020C>T	c.(8020-8022)Ccc>Tcc	p.P2674S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2674	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATGCCATTGGGGAGCGTCCAG	0.607000													18	36					0	0	0.008871	0	0
MC2R	4158	broad.mit.edu	37	18	13885413	13885413	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:13885413G>A	ENST00000327606.3	-	2	285	c.105C>T	c.(103-105)tcC>tcT	p.S35S		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	35					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CTCCAACAATGGAAATTGTGA	0.413000													12	30					0	0	0.001368	0	0
LIMK2	3985	broad.mit.edu	37	22	31663834	31663834	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:31663834C>T	ENST00000331728.4	+	10	1315	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L	LIMK2_ENST00000340552.4_Silent_p.L380L|LIMK2_ENST00000333611.4_Silent_p.L380L|LIMK2_ENST00000406516.1_Silent_p.L323L|LIMK2_ENST00000444929.2_Silent_p.L155L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	401	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GGATAAGAAGCTGAACCTCCT	0.552000													35	59					0	0	0.003271	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384585	21384585	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:21384585G>A	ENST00000382932.2	-	3	1105	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	SLC7A4_ENST00000403586.1_Silent_p.A346A	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	346					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGGCGGCCATGGCATAGACAA	0.642000													7	56					0	0	0.003080	0	0
DUPD1	338599	broad.mit.edu	37	10	76797602	76797602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:76797602C>T	ENST00000338487.5	-	3	654	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	219						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTACAGCTCCCTGCCATCC	0.637000													45	48					0	0	0.003610	0	0
TRPM2	7226	broad.mit.edu	37	21	45820172	45820172	+	Missense_Mutation	SNP	C	C	T	rs146409810	byFrequency	TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr21:45820172C>T	ENST00000397928.1	+	15	2684	c.2239C>T	c.(2239-2241)Ctc>Ttc	p.L747F	TRPM2_ENST00000397932.2_Missense_Mutation_p.L747F|TRPM2_ENST00000300482.5_Missense_Mutation_p.L747F|TRPM2_ENST00000300481.9_Missense_Mutation_p.L727F|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	747						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTGGGGCCAGCTCTCCGTGGA	0.667000													24	17					0	0	0.007291	0	0
MYH13	8735	broad.mit.edu	37	17	10258257	10258257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:10258257G>A	ENST00000418404.3	-	9	1019	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	MYH13_ENST00000252172.4_Missense_Mutation_p.H286Y|MYH13_ENST00000570743.1_Missense_Mutation_p.H286Y			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	286	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TAGAAAATATGATAGCTTCTC	0.358000													14	12					0	0	0.004990	0	0
LBP	3929	broad.mit.edu	37	20	36982742	36982742	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr20:36982742C>T	ENST00000217407.2	+	4	588	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	143					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGTCAACCTCCTGTTGGGCAG	0.567000													28	33					0	0	0.002096	0	0
MUC16	94025	broad.mit.edu	37	19	9071105	9071105	+	Silent	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:9071105C>T	ENST00000397910.4	-	3	16544	c.16341G>A	c.(16339-16341)tcG>tcA	p.S5447S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5449	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						GTGTGGCTTTCGATGTCTCTG	0.493000													88	133					0	0	0.003610	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438607	37438607	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:37438607G>A	ENST00000374660.1	+	10	1503	c.1404_splice	c.e10+1	p.K468_splice	ANKRD30A_ENST00000361713.1_Splice_Site_p.K468_splice|ANKRD30A_ENST00000602533.1_Splice_Site_p.K468_splice			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	524						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGCCTTCAAGGTATTTAGTT	0.303000													24	33					0	0	0.003954	0	0
SLC22A7	10864	broad.mit.edu	37	6	43270098	43270098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr6:43270098G>A	ENST00000372585.5	+	8	1317	c.1222G>A	c.(1222-1224)Ggg>Agg	p.G408R	SLC22A7_ENST00000372589.3_Missense_Mutation_p.G406R|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G406R	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	408						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CACGCAAGCTGGGACACTGCT	0.647000													5	22					0	0	0.001168	0	0
FAM98C	147965	broad.mit.edu	37	19	38893811	38893811	+	Silent	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:38893811G>A	ENST00000252530.5	+	1	37	c.18G>A	c.(16-18)gcG>gcA	p.A6A	FAM98C_ENST00000343358.7_Silent_p.A6A|FAM98C_ENST00000588262.1_Silent_p.A6A	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	6										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGTGAAGGCGGAAGCGTGGG	0.731000													10	20					0	0	0.008291	0	0
OR2G6	391211	broad.mit.edu	37	1	248685589	248685589	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:248685589C>G	ENST00000343414.4	+	1	674	c.642C>G	c.(640-642)atC>atG	p.I214M		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTTACTCATCTTAGTCTCCT	0.493000													13	98					0	0	0.002450	0	0
LILRA3	11026	broad.mit.edu	37	19	54802206	54802206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:54802206G>A	ENST00000391745.1	-	10	1349	c.1033C>T	c.(1033-1035)Ctc>Ttc	p.L345F	LILRA3_ENST00000391744.3_Missense_Mutation_p.L264F|LILRA3_ENST00000251390.3_Missense_Mutation_p.L328F					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGCACGGAGAGGAAGGGTCTG	0.632000													8	35					0	0	0.003080	0	0
PDZD8	118987	broad.mit.edu	37	10	119044086	119044086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:119044086G>A	ENST00000334464.5	-	5	2397	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	720					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AACTTGAAAGGATCCCTGCAC	0.423000													16	48					0	0	0.004007	0	0
TNN	63923	broad.mit.edu	37	1	175046721	175046721	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr1:175046721T>C	ENST00000239462.4	+	2	280	c.167T>C	c.(166-168)gTt>gCt	p.V56A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	56					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCTGCCTTGGTTCAGGTTGAC	0.607000													13	21					0	0	0.001855	0	0
GRIA1	2890	broad.mit.edu	37	5	153085405	153085405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:153085405C>T	ENST00000285900.5	+	11	1944	c.1601C>T	c.(1600-1602)cCt>cTt	p.P534L	GRIA1_ENST00000448073.4_Missense_Mutation_p.P544L|GRIA1_ENST00000340592.5_Missense_Mutation_p.P534L|GRIA1_ENST00000518142.1_Missense_Mutation_p.P454L|GRIA1_ENST00000521843.2_Missense_Mutation_p.P465L|GRIA1_ENST00000518783.1_Missense_Mutation_p.P544L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	534					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCCTTGATCCTTTGGCTTAT	0.433000													62	61					0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196759929	196759936	+	Frame_Shift_Del	DEL	AACAAATC	AACAAATC	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr2:196759929_196759936delAACAAATC	ENST00000312428.6	-	30	4760_4767	c.4660_4667delGATTTGTT	c.(4660-4668)tfs	p.DLF1554fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1554					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TACCCCAGGAAACAAATCCGAAGTAATT	0.317													9	34	---	---	---	---					
LIMD1	8994	broad.mit.edu	37	3	45718420	45718420	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr3:45718420delG	ENST00000273317.4	+	8	1921	c.1900delG	c.(1900-1902)gtfs	p.G634fs		NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	634	LIM zinc-binding 3.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		ACAGGACTGTGGTCTGGAGCT	0.557													79	147	---	---	---	---					
POLR2B	5431	broad.mit.edu	37	4	57860959	57860961	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr4:57860959_57860961delATC	ENST00000381227.1	+	6	916_918	c.503_505delATC	c.(502-507)ggt>g	p.DR168del	POLR2B_ENST00000314595.5_In_Frame_Del_p.DR168del|POLR2B_ENST00000441246.2_In_Frame_Del_p.DR161del|POLR2B_ENST00000431623.2_In_Frame_Del_p.DR93del			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	168					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GGCTTGACAGATCGTGATCTTTG	0.340													21	61	---	---	---	---					
C6	729	broad.mit.edu	37	5	41149487	41149523	+	Frame_Shift_Del	DEL	GATTATTTAAACATTTCTCAGCCAAAAACTTACAAGC	GATTATTTAAACATTTCTCAGCCAAAAACTTACAAGC	-	rs141740354		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr5:41149487_41149523delGATTATTTAAACATTTCTCAGCCAAAAACTTACAAGC	ENST00000263413.3	-	17	2707_2743	c.2443_2479delGCTTGTAAGTTTTTGGCTGAGAAATGTTTAAATAATC	c.(2443-2481)agfs	p.ACKFLAEKCLNNQ815fs	C6_ENST00000337836.5_Frame_Shift_Del_p.ACKFLAEKCLNNQ815fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	815	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.K817R(1)|p.E821D(1)|p.K817T(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGGAGTTGCTGATTATTTAAACATTTCTCAGCCAAAAACTTACAAGCGGGTGAAGTA	0.414													10	126	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98574287	98574311	+	Frame_Shift_Del	DEL	CGCTGATGTTGGAGCACCAGGCTTT	CGCTGATGTTGGAGCACCAGGCTTT	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:98574287_98574311delCGCTGATGTTGGAGCACCAGGCTTT	ENST00000359863.4	+	54	8329_8353	c.8120_8144delCGCTGATGTTGGAGCACCAGGCTTT	c.(8119-8145)atfs	p.TLMLEHQAF2707fs	TRRAP_ENST00000355540.3_Frame_Shift_Del_p.TLMLEHQAF2689fs|TRRAP_ENST00000446306.3_Frame_Shift_Del_p.TLMLEHQAF2689fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2707	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCGGTCCACGCTGATGTTGGAGCACCAGGCTTTTGAAAAGGGT	0.569													10	72	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100682344	100682344	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr7:100682344delT	ENST00000306151.4	+	3	7711	c.7647delT	c.(7645-7647)tcfs	p.S2549fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2549	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGTCACTTCTACTGAAATCA	0.478													133	237	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	12968281	12968281	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr8:12968281delA	ENST00000276297.4	-	7	1881	c.1472delT	c.(1471-1473)tgfs	p.L491fs	DLC1_ENST00000358919.2_Frame_Shift_Del_p.L54fs|DLC1_ENST00000512044.2_Frame_Shift_Del_p.L88fs|DLC1_ENST00000520226.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	491	SAM.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATCTCTGTCCAAAAAATCATG	0.368													84	150	---	---	---	---					
FAM102A	399665	broad.mit.edu	37	9	130716156	130716157	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr9:130716156_130716157insA	ENST00000373095.1	-	2	569_570	c.194_195insT	c.(193-195)tgtfs	p.C65fs		NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	65										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCTTACACACGAAGGTGAACCT	0.634													10	32	---	---	---	---					
SGPL1	8879	broad.mit.edu	37	10	72628160	72628160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr10:72628160delC	ENST00000373202.3	+	8	874	c.674delC	c.(673-675)gcfs	p.A225fs		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	225					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	CGGGATCTGGCCTTTGAGAAG	0.443													17	98	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs75843814		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020																											GATGCTGCTTCTCAGAGCTGCTGT	0.583													2	4	---	---	---	---					
LLGL2	3993	broad.mit.edu	37	17	73539582	73539583	+	Splice_Site	INS	-	-	GT	rs112645203		TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:73539582_73539583insGT	ENST00000392550.3	+	2	192	c.75_splice	c.e2+1	p.K25_splice	LLGL2_ENST00000578363.1_Splice_Site_p.K25_splice|LLGL2_ENST00000167462.5_Splice_Site_p.K25_splice|LLGL2_ENST00000577200.1_Splice_Site_p.K25_splice|LLGL2_ENST00000375227.4_Splice_Site_p.K25_splice	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	25					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTTTAACAAGgtaagttaggg	0.564													23	52	---	---	---	---					
FASN	2194	broad.mit.edu	37	17	80049118	80049118	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr17:80049118delG	ENST00000306749.2	-	9	1690	c.1472delC	c.(1471-1473)cgfs	p.P491fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	491	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GAACCAGAGCGGGCGCTCGCC	0.697													9	9	---	---	---	---					
CTAGE1	64693	broad.mit.edu	37	18	19995591	19995591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr18:19995591delA	ENST00000391403.2	-	1	2287	c.2184delT	c.(2182-2184)ttfs	p.F728fs		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	728	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGTAAGGAAGAAAACCTCTCG	0.488													10	22	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													9	126	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022246	18022246	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GC-06A-11D-A197-08	TCGA-EE-A2GC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d86996d-3894-4f64-b4aa-8ad2cc8875ae	ff11ae0e-c751-4025-8c51-d91be1e89172	g.chr22:18022246delT	ENST00000262608.8	+	15	2351	c.2351delT	c.(2350-2352)ccfs	p.L784fs	CECR2_ENST00000400585.2_Frame_Shift_Del_p.L642fs|CECR2_ENST00000400573.4_Frame_Shift_Del_p.L783fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	825					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTCGCACTCTCGGTCACGTG	0.602													21	41	---	---	---	---					
