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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF783	100289678	broad.mit.edu	37	7	148979285	148979285	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:148979285C>T	uc011kuo.2	+	5	1655	c.1492C>T	c.(1492-1494)Cag>Tag	p.Q498*	AF035281_uc003wfr.4_Intron	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	498					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CCAGTGCCCCCAGTGTGGCCG	0.731000														40			19		0	0	1	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652393	234652393	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:234652393G>A	uc002vuz.3	-	0	269	c.170C>T	c.(169-171)tCg>tTg	p.S57L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	57	J.				protein folding		heat shock protein binding|unfolded protein binding										CTTGGCGTCCGACAACACCTC	0.632000														117			64		0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886109	57886109	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:57886109C>T	uc001nml.1	-	0	808	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				ACTTTGTCTTCCTCCAGAGAT	0.458000														62			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179499171	179499171	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179499171C>T	uc021vsy.1	-	178	34858	c.34633G>A	c.(34633-34635)Gat>Aat	p.D11545N	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D5240N|TTN_uc021vta.1_Missense_Mutation_p.D5173N|TTN_uc021vtb.1_Missense_Mutation_p.D5048N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12472	Glu-rich.|Pro-rich.						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)			AATTGAGAATCATTAATAACA	0.393000														17			20		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651491	84651491	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:84651491G>A	uc002bjz.4	+	20	3335	c.3111G>A	c.(3109-3111)tgG>tgA	p.W1037*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.W1037*	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1037						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCAAATGTGGAATAACAAAA	0.488000														34			31		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222345	140222345	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140222345G>A	uc003lhs.2	+	0	1439	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.R480Q	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	494	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTGCGCGAGACGCGGAC	0.652000														202			37		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750170	142750170	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:142750170C>T	uc011ksv.2	+	0	733	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T244K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCACCTCACACTGGTCTTCAT	0.547000														84			51		0	0	1	0	0
MFSD7	84179	broad.mit.edu	37	4	677397	677397	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:677397C>T	uc003gay.3	-	7	1053	c.996_splice	c.e7+1	p.L332_splice	MFSD7_uc003gaw.3_Splice_Site_p.L74_splice|MFSD7_uc003gax.3_Splice_Site_p.L331_splice|MFSD7_uc003gaz.3_Splice_Site_p.L213_splice	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	332					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GAGACCCTCACCAGGGCAAAG	0.642000														17			8		0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61719213	61719213	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:61719213A>G	uc010ypn.2	-	16	1973	c.1844T>C	c.(1843-1845)tTg>tCg	p.L615S	XPO1_uc010fcl.3_Missense_Mutation_p.L611S|XPO1_uc002sbj.3_Missense_Mutation_p.L615S|XPO1_uc002sbk.3_Missense_Mutation_p.L176S|XPO1_uc002sbh.3_Missense_Mutation_p.L262S	NM_003400	NP_003391	O14980	XPO1_HUMAN	Homo sapiens exportin 1 (CRM1 homolog, yeast) (XPO1), mRNA.	615	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mRNA metabolic process|mRNA transport|mitotic prometaphase|viral genome transport in host cell|viral infectious cycle	Cajal body|annulate lamellae|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	RNA binding|protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AATGTTGTTCAAAATTTCATC	0.348000			Mis		CLL									29			30		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133869	91133869	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:91133869C>T	uc004efk.2	+	1	3475	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F	PCDH11X_uc004efl.2_Missense_Mutation_p.S877F|PCDH11X_uc010nmv.2_Missense_Mutation_p.S877F|PCDH11X_uc004efm.2_Missense_Mutation_p.S877F|PCDH11X_uc004efn.2_Missense_Mutation_p.S877F|PCDH11X_uc004efo.2_Missense_Mutation_p.S877F|PCDH11X_uc004efh.2_Missense_Mutation_p.S877F|PCDH11X_uc004efj.1_Missense_Mutation_p.S877F	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	877					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						aagaagCATTCCCCTAAGAAC	0.393000														1			31		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770043	38770043	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:38770043C>T	uc003ciq.3	-	14	2630	c.2630G>A	c.(2629-2631)gGg>gAg	p.G877E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	877					sensory perception	voltage-gated sodium channel complex		p.L876L(1)		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)	CACCAGGTTCCCTAGCACCAT	0.498000														32			9		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936872	21936872	+	RNA	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:21936872G>A	uc010tzj.1	-	0		c.3868C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TGACTTTAGGGCCATAAGCCT	0.512000														141			12		0	0	1	0	0
ELK1	2002	broad.mit.edu	37	X	47500672	47500672	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:47500672A>T	uc004dik.4	-	2	491	c.169T>A	c.(169-171)Tac>Aac	p.Y57N	ELK1_uc010nhv.3_Missense_Mutation_p.Y57N|ELK1_uc010nhw.3_5'UTR|ELK1_uc004dil.4_Non-coding_Transcript	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	57					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						AGCTTGTCGTAATTCATGTTG	0.532000														3			27		0	0	1	0	0
FGF7	2252	broad.mit.edu	37	15	49716677	49716677	+	Silent	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:49716677A>G	uc001zxn.3	+	1	712	c.183A>G	c.(181-183)ggA>ggG	p.G61G	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	61					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACATGGAAGGAGGGGATATAA	0.423000														70			51		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681061	100681061	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:100681061C>T	uc003uxp.1	+	2	6417	c.6364C>T	c.(6364-6366)Ctt>Ttt	p.L2122F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2122	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)					GGCTAGCACCCTTTCAACAAC	0.493000														164			160		0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31577426	31577426	+	Splice_Site	SNP	C	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:31577426C>A	uc002wyi.3	-	9	706	c.613_splice	c.e9+1	p.G205_splice		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	205	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GGTCACCTACCTATAGACTTC	0.493000														42			38		9.85521e-28	9.9628e-28	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17436140	17436140	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:17436140G>A	uc001mnc.3	-	18	2435	c.2309C>T	c.(2308-2310)gCc>gTc	p.A770V		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	770	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGAAGCATAGGCCACGGGGCC	0.547000														35			86		0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406380	39406380	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:39406380G>A	uc002hwi.3	+	0	442	c.408G>A	c.(406-408)gaG>gaA	p.E136E		NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA.	136	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGTGAGACCACTTGCT	0.572000														73			104		0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448630	91448630	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:91448630C>T	uc010bnz.2	+	2	397	c.282C>T	c.(280-282)gtC>gtT	p.V94V	MAN2A2_uc010boa.3_Silent_p.V136V|MAN2A2_uc002bqc.3_Silent_p.V94V|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	94					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)			ACTACACGGTCAATGGCTCCT	0.632000														44			57		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083110	66083110	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:66083110G>A	uc001ohm.1	-	0	1406	c.1389C>T	c.(1387-1389)gcC>gcT	p.A463A		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	463	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GAGGCTGGTGGGCAGAAGGCA	0.642000														33			61		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48376352	48376352	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:48376352G>A	uc001rqu.3	-	33	2415	c.2234C>T	c.(2233-2235)cCt>cTt	p.P745L	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P676L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	745	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.G744G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AAGACCTGGAGGGCCCTGAGC	0.627000														17			5		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	404557	404557	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:404557C>T	uc021qbk.1	+	13	2456	c.2427C>T	c.(2425-2427)ttC>ttT	p.F809F	PKP3_uc001lpc.3_Silent_p.F794F	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	794					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-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;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAGGACTTCCTGGGCCCAT	0.627000														21			52		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221265	43221265	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:43221265C>T	uc002lbe.3	+	7	1899	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	SLC14A2_uc002lbb.3_Silent_p.F361F|SLC14A2_uc010dnj.3_Silent_p.F361F	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	361						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						GAGGCATGTTCTATGCCCTCA	0.562000														13			35		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21060949	21060949	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:21060949A>G	uc010vbe.2	-	30	4402	c.4402T>C	c.(4402-4404)Ttc>Ctc	p.F1468L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1468	AAA 1 (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)		AGCCCCTTGAAGAACTTCCCC	0.507000														46			45		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179554074	179554074	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179554074G>A	uc021vsy.1	-	120	28447	c.28222C>T	c.(28222-28224)Cct>Tct	p.P9408S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6069S|TTN_uc010fre.1_Missense_Mutation_p.P519S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10335	Ig-like 77.						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)			CTTTCTTCAGGAACTTTCTTC	0.373000														15			15		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52570034	52570034	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:52570034C>T	uc002xws.2	-	10	1955	c.1617G>A	c.(1615-1617)ggG>ggA	p.G539G	BCAS1_uc010zza.1_Silent_p.G205G|BCAS1_uc010zzb.1_Silent_p.G465G|BCAS1_uc010gim.2_Silent_p.G395G|BCAS1_uc002xwt.2_Silent_p.G525G|BCAS1_uc010gil.1_Silent_p.G461G	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	539						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGAGCTTGTCCCCATTCTGCA	0.537000														59			60		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84560874	84560874	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:84560874C>T	uc004eer.2	-	12	1506	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	POF1B_uc004ees.3_Missense_Mutation_p.D454N	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	454							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CCAATCTCATCCATTTTAGCC	0.388000														3			15		0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37132354	37132354	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:37132354A>C	uc001wty.4	+	2	983	c.257A>C	c.(256-258)cAc>cCc	p.H86P	PAX9_uc010amq.3_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	Homo sapiens paired box 9 (PAX9), mRNA.	86	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GTGGTGAAACACATCCGGACC	0.642000														50			17		0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802960	31802960	+	Missense_Mutation	SNP	C	T	T	rs76547537		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:31802960C>T	uc011acw.2	+	0	367	c.367C>T	c.(367-369)Cct>Tct	p.P123S		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA.	123						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTGTGGTTTTCCTTCCCTGAG	0.512000														19			17		0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10058885	10058885	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:10058885G>A	uc004csx.4	+	5	650	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	WWC3_uc010nds.3_5'UTR|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	151										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGTGAGCTCCGGACCATCAAG	0.458000														3			20		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200163	155200163	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:155200163G>A	uc021xge.1	-	22	3953	c.3676C>T	c.(3676-3678)Cat>Tat	p.H1226Y	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.H1188Y	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1226					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)			AAGGGACAATGGCCTGACATC	0.488000														37			9		0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798172	38798172	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:38798172C>T	uc003gtl.3	-	3	2555	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	TLR1_uc021xnn.1_Missense_Mutation_p.E761K	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	761	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGCTCTTTTCCTTGGGCCAT	0.433000														36			27		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73716847	73716847	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:73716847C>T	uc002sje.1	+	9	7869	c.7758C>T	c.(7756-7758)ttC>ttT	p.F2586F	ALMS1_uc002sjf.1_Silent_p.F2544F|ALMS1_uc002sjg.3_Silent_p.F1974F|ALMS1_uc002sjh.1_Silent_p.F1974F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2586					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						AGGGATGTTTCCGGACTCTAA	0.458000														88			60		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137302	40137302	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:40137302C>T	uc021qgf.1	-	0	541	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	LRRC4C_uc001mxc.1_Missense_Mutation_p.E177K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E177K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E181K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E177K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	181					regulation of axonogenesis	integral to membrane	protein binding			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)				CTTTTCAATTCCCCTAAGTCT	0.438000														36			11		0	0	1	0	0
LXN	56925	broad.mit.edu	37	3	158387398	158387398	+	Splice_Site	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:158387398T>C	uc003fch.3	-	3	408	c.193_splice	c.e3-1	p.Q65_splice	GFM1_uc003fcd.3_Intron|GFM1_uc003fce.3_Intron|GFM1_uc003fcg.3_Intron|LXN_uc011bov.1_Splice_Site_p.Q65_splice	NM_020169	NP_064554	Q9BS40	LXN_HUMAN	Homo sapiens latexin (LXN), mRNA.	65						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CACCTTAACTTGCTGTTTGAA	0.353000														8			23		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797696	76797696	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:76797696G>A	uc003hix.3	-	10	1421	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.P355L	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	355	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGGCGAAGAGGGAAGAGAGCG	0.612000														23			23		0	0	1	0	0
TMPPE	643853	broad.mit.edu	37	3	33135509	33135509	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:33135509G>T	uc003cfk.2	-	1	391	c.179C>A	c.(178-180)tCc>tAc	p.S60Y	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron|TMPPE_uc021wux.1_Missense_Mutation_p.S60Y	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	60						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						AATGTAGAGGGAGCCAATGAG	0.567000														5			19		4.63292e-17	4.66821e-17	1	1	0
DUOXA1	90527	broad.mit.edu	37	15	45415186	45415186	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:45415186G>A	uc001zup.3	-	3	427	c.27C>T	c.(25-27)ccC>ccT	p.P9P	DUOXA1_uc010uem.2_Silent_p.P9P|DUOXA1_uc010bec.3_Silent_p.P9P|DUOXA1_uc001zuq.1_Silent_p.P9P|DUOXA1_uc001zur.1_Silent_p.P9P|DUOXA1_uc010bed.1_Silent_p.P9P	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Homo sapiens dual oxidase maturation factor 1 (DUOXA1), mRNA.	9					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CAGCATAGAAGGGGAATGTGT	0.517000														61			26		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48234262	48234262	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:48234262C>T	uc002eff.1	-	13	2357	c.2007G>A	c.(2005-2007)ggG>ggA	p.G669G	ABCC11_uc002efg.1_Silent_p.G669G|ABCC11_uc002efh.1_Silent_p.G669G|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	669	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAATGTGCTTCCCCACGTGGG	0.607000														42			28		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321541	52321541	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:52321541G>A	uc003xqu.4	-	16	2744	c.2643C>T	c.(2641-2643)gtC>gtT	p.V881V	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	881					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)				CTCGTGCATAGACTGAATCCA	0.662000														23			31		0	0	1	0	0
NPL	80896	broad.mit.edu	37	1	182783974	182783974	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:182783974C>A	uc009wyb.3	+	6	773	c.345C>A	c.(343-345)ttC>ttA	p.F115L	NPL_uc010pnx.2_Missense_Mutation_p.F96L|NPL_uc010pny.2_Non-coding_Transcript|NPL_uc001gpp.4_Missense_Mutation_p.F115L|NPL_uc021pfz.1_Missense_Mutation_p.F115L|NPL_uc009wyc.3_Missense_Mutation_p.F115L|NPL_uc001gpo.2_Missense_Mutation_p.F96L	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), transcript variant 1, mRNA.	115					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						CACCGTTCTTCCTCAAGCCAT	0.423000														3			54		6.3237e-29	6.39972e-29	1	1	0
VWF	7450	broad.mit.edu	37	12	6135190	6135190	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:6135190C>T	uc001qnn.1	-	22	3240	c.2990G>A	c.(2989-2991)gGg>gAg	p.G997E	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	997	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			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)	ATCAAAATTCCCACACAGGCC	0.547000														27			36		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564662	179564662	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:179564662G>A	uc003mlq.3	-	1	525	c.228C>T	c.(226-228)ccC>ccT	p.P76P	RASGEF1C_uc003mlr.3_Silent_p.P76P|RASGEF1C_uc003mlp.4_5'Flank	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	76	N-terminal 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)			GGAGCTCCCGGGGCTCGATGA	0.652000														49			20		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33767727	33767727	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:33767727C>T	uc002hjk.1	-	3	2911	c.2581G>A	c.(2581-2583)Gaa>Aaa	p.E861K	SLFN13_uc010wch.1_Missense_Mutation_p.E861K|SLFN13_uc002hjl.2_Missense_Mutation_p.E861K|SLFN13_uc002hjm.2_Missense_Mutation_p.E530K|SLFN13_uc010ctt.2_Missense_Mutation_p.E543K	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	861						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATGCTCCTTTCCAGGCCTGAG	0.488000														15			97		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739078	119739078	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:119739078C>T	uc002tln.1	+	8	992	c.860C>T	c.(859-861)cCa>cTa	p.P287L	MARCO_uc010yyf.1_Missense_Mutation_p.P209L	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	287	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGCCAGGCCCACCAGGTAAG	0.512000														3			2		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432869	111432869	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:111432869C>T	uc003dya.3	+	2	1330	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	PLCXD2_uc003dxz.3_Missense_Mutation_p.R254W	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	254					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TCTGAGTGAGCGGGCCTCACG	0.592000														67			4		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100901712	100901712	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:100901712C>T	uc003pqj.4	-	1	651	c.184G>A	c.(184-186)Gag>Aag	p.E62K	SIM1_uc021zdg.1_Missense_Mutation_p.E62K|SIM1_uc010kcu.3_Missense_Mutation_p.E62K	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	62					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)		CCCCACGCCTCGCCGAGCCCT	0.627000														39			17		0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110124729	110124729	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:110124729C>T	uc009yxy.3	-	8	1211	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Intron|RDX_uc009yya.3_Intron|RDX_uc001pku.3_Missense_Mutation_p.E301K|RDX_uc010rwe.2_Missense_Mutation_p.E165K	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	301					actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding	p.I300V(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TGTTGTACTTCAATAGTATCA	0.413000														14			38		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107600255	107600255	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:107600255G>A	uc003vev.2	-	16	2572	c.2411C>T	c.(2410-2412)tCg>tTg	p.S804L	LAMB1_uc003vew.2_Missense_Mutation_p.S780L|LAMB1_uc003vex.3_Missense_Mutation_p.S780L	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	780	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAACTTAACGAACCCTGAGG	0.547000														10			10		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70715276	70715276	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:70715276G>A	uc003heo.3	-	4	488	c.375C>T	c.(373-375)atC>atT	p.I125I	SULT1E1_uc010ihv.1_Silent_p.I125I	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	125					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						GGCAAAGATAGATTATCTAAG	0.318000														21			27		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617773	77617773	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:77617773G>A	uc003yau.2	+	1	1837	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	ZFHX4_uc003yat.1_Missense_Mutation_p.D484N|ZFHX4_uc003yaw.1_Missense_Mutation_p.D484N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	484						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)			TGAACTTGATGACGAGGAAGT	0.428000										HNSCC(33;0.089)				14			5		0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76833641	76833641	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:76833641C>T	uc009yup.3	+	12	1928	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	CAPN5_uc001oxx.3_Silent_p.I541I|CAPN5_uc009yuq.3_Silent_p.I577I|CAPN5_uc001oxy.3_Silent_p.I581I|CAPN5_uc001oya.3_Silent_p.I103I	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	541	C2.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CTTATGTGATCATCAAGTGTG	0.572000														10			13		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563857	75563857	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:75563857A>T	uc002fej.1	-	4	765	c.444T>A	c.(442-444)ttT>ttA	p.F148L	CHST5_uc002fei.3_Missense_Mutation_p.F142L|CHST5_uc021tlk.1_Missense_Mutation_p.F142L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	142					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CCCAGTTGAAAAAGGCGGACA	0.607000														54			65		0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57750757	57750757	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:57750757A>T	uc003jrn.3	-	12	2027	c.1847T>A	c.(1846-1848)tTt>tAt	p.F616Y	PLK2_uc021xyx.1_Missense_Mutation_p.F602Y	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	616	POLO box 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GCCATCATTAAAGAGCATCAT	0.428000														92			193		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109383769	109383769	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:109383769C>T	uc002tem.4	+	19	6900	c.6774C>T	c.(6772-6774)ttC>ttT	p.F2258F		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2258					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAAATCTTTTCCGTTTTGGTG	0.398000														150			70		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23913568	23913568	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:23913568G>A	uc001uon.2	-	9	5036	c.4447C>T	c.(4447-4449)Caa>Taa	p.Q1483*	SACS_uc001uoo.2_Nonsense_Mutation_p.Q1336*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1483					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone 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)		TCAGCGTTTTGAAGTAGTTCT	0.383000														4			32		0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6639007	6639007	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:6639007C>T	uc001qoo.2	+	28	3766	c.3720C>T	c.(3718-3720)ctC>ctT	p.L1240L	NCAPD2_uc010sfd.1_Silent_p.L1195L	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	1240					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGCGAGGCCTCCGTAAGATGC	0.527000														54			27		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254394	155254394	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:155254394G>A	uc003inw.2	-	8	1469	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	DCHS2_uc003inx.2_Missense_Mutation_p.S989F	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	490	Cadherin 4.				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)		CGTGGTCTGGGATATTCTAAT	0.597000														26			51		0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261864	23261864	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:23261864G>A	uc001yvh.1	+	10	1275	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						CCAGGCCCAGGTCAAAAACAA	0.587000														52			26		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228147117	228147117	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:228147117G>A	uc002vom.2	+	31	2687	c.2525G>A	c.(2524-2526)gGa>gAa	p.G842E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	842	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAGACCCAGGAATTCCAGGC	0.443000														25			22		0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886005	57886005	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:57886005G>A	uc001nml.1	-	0	912	c.912C>T	c.(910-912)gtC>gtT	p.V304V	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V304V(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GTCTCCTAGCGACCTTTCTGA	0.428000														79			22		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886515	228886515	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:228886515C>T	uc002vpq.2	-	5	656	c.609G>A	c.(607-609)acG>acA	p.T203T	SPHKAP_uc002vpp.2_Silent_p.T203T|SPHKAP_uc010zlx.1_Silent_p.T203T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	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														37			16		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118657941	118657941	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:118657941C>T	uc001ehk.2	-	3	507	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	147	Lys-rich.					cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACCTTCTTTTCATTTTCCCGT	0.423000														13			131		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1255221	1255221	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:1255221C>T	uc002cks.3	+	10	2807	c.2559C>T	c.(2557-2559)atC>atT	p.I853I	CACNA1H_uc002ckt.3_Silent_p.I853I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	853					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGGGCTACATCCGGAACCCGT	0.597000														58			62		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20673166	20673166	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:20673166A>T	uc002dhm.1	-	5	1010	c.942T>A	c.(940-942)ttT>ttA	p.F314L	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.F314L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	314					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ATACCCCCCAAAAGTGGTTAA	0.363000														39			12		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251444	40251444	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:40251444G>A	uc003cka.3	+	10	1900	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.E589K|MYRIP_uc010hhw.3_Missense_Mutation_p.E500K|MYRIP_uc011ayz.2_Missense_Mutation_p.E402K|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	589	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAGGCTGTACGAGTTAGCAAT	0.493000														22			47		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155295099	155295099	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:155295099C>T	uc003inw.2	-	3	435	c.435G>A	c.(433-435)caG>caA	p.Q145Q	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	145	Cadherin 1.				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)		GTGTCATTCTCTGCTCATCCT	0.348000														32			37		0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47351397	47351397	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:47351397C>T	uc001wwj.4	-	10	2424	c.2266G>A	c.(2266-2268)Gag>Aag	p.E756K	MDGA2_uc001wwh.4_5'UTR|MDGA2_uc001wwi.4_Missense_Mutation_p.E458K|MDGA2_uc010ani.3_Missense_Mutation_p.E247K	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	687	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTTTAATCTCCTGCTCCCAC	0.358000														10			14		0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135439077	135439077	+	Silent	SNP	T	C	C	rs149978897	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:135439077T>C	uc010qvg.2	-	3	416	c.363A>G	c.(361-363)tcA>tcG	p.S121S		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	121						nucleus		p.S122S(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTTTATTCAATGACAAGCTGC	0.517000														25			4		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14880876	14880876	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:14880876C>T	uc003ssz.3	-	0	200	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	DGKB_uc011jxt.2_Missense_Mutation_p.E5K|DGKB_uc003sta.3_Missense_Mutation_p.E5K|DGKB_uc011jxu.2_Missense_Mutation_p.E5K|DGKB_uc011jxv.1_Missense_Mutation_p.E5K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	5					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)	GCCCATTTTTCCTGGTTTGTC	0.403000														7			9		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980435	121980435	+	Nonsense_Mutation	SNP	C	T	T	rs104893707		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:121980435C>T	uc003eew.4	+	3	991	c.553C>T	c.(553-555)Cga>Tga	p.R185*	CASR_uc003eev.4_Nonsense_Mutation_p.R185*	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	185			R -> Q (in FHH).		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)	GTCTTTCCTCCGAACCATCCC	0.507000														112			31		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115590032	115590032	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:115590032C>T	uc004eqi.3	+	13	1971	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	614					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GGAACAACATCGTGGGGAAAG	0.408000														5			45		0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9086405	9086405	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:9086405C>T	uc009vmo.1	-	1	1	c.1_splice	c.e1-1	p.M1_splice		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	1						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGTTCTCCATCCTTGTTCAGG	0.592000														3			17		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71391530	71391530	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:71391530G>A	uc010dfm.3	-	25	3355	c.3355_splice	c.e25-1	p.P1119_splice	SDK2_uc002jjt.4_Splice_Site_p.P278_splice|SDK2_uc010dfn.2_Splice_Site_p.P798_splice	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1119	Fibronectin type-III 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTCCGGGAGAGGCTGCAGCGG	0.632000														5			28		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064549	9064549	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9064549C>T	uc002mkp.3	-	2	23101	c.22897G>A	c.(22897-22899)Gaa>Aaa	p.E7633K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7635	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						AGGGTACTTTCTAGTGTAGAC	0.473000														26			24		0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215793886	215793886	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:215793886C>T	uc001hks.3	+	17	2668	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S	KCTD3_uc001hkt.3_Missense_Mutation_p.P790S|KCTD3_uc010pub.2_Missense_Mutation_p.P690S|KCTD3_uc009xdn.3_Missense_Mutation_p.P516S	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	792						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TACTGCGTCCCCATCTCCTAC	0.448000														4			108		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152631541	152631541	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:152631541G>A	uc021zhb.1	-	86	17232	c.17009C>T	c.(17008-17010)tCt>tTt	p.S5670F	SYNE1_uc003qos.4_Missense_Mutation_p.S194F|SYNE1_uc003qot.4_Missense_Mutation_p.S5599F|SYNE1_uc003qou.4_Missense_Mutation_p.S5670F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5670					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CTGCCGATGAGAGAGCTGCTC	0.443000										HNSCC(10;0.0054)				41			15		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33464972	33464972	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:33464972G>A	uc003zsz.3	-	20	2785	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	NOL6_uc003zsy.3_5'UTR|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.S892F|NOL6_uc011lob.2_Missense_Mutation_p.S843F|NOL6_uc003ztb.1_Missense_Mutation_p.S895F	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	895					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AACCTGGGGGGAACTAAAGGG	0.512000														2			49		0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48591433	48591433	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:48591433G>A	uc001zwn.4	+	24	3273	c.3057G>A	c.(3055-3057)tgG>tgA	p.W1019*	SLC12A1_uc010bem.3_Nonsense_Mutation_p.W1019*|SLC12A1_uc001zwq.4_Nonsense_Mutation_p.W790*|SLC12A1_uc001zwr.4_Nonsense_Mutation_p.W746*	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	1019					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.P1018L(1)|p.P1018T(1)		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)	AAACTCCGTGGAAAATTACAG	0.363000														10			14		0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186390650	186390650	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:186390650C>T	uc003fqq.3	+	4	656	c.633C>T	c.(631-633)caC>caT	p.H211H		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	211	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TCCCCAGACACCCCAATGTGA	0.463000														34			4		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147178	26147178	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:26147178C>G	uc002dof.3	+	1	1372	c.980C>G	c.(979-981)tCc>tGc	p.S327C		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	327					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		ATCGATGCTTCCTGGAGTGCC	0.542000														246			5		0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	27003982	27003982	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:27003982C>T	uc003acy.1	-	3	373	c.303G>A	c.(301-303)tgG>tgA	p.W101*		NM_001887	NP_001878	P53674	CRBB1_HUMAN	Homo sapiens crystallin, beta B1 (CRYBB1), mRNA.	101	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CAAAGGCGACCCAGCTGGATA	0.572000														31			27		0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220379880	220379880	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:220379880A>T	uc002vlz.3	+	0	989	c.815A>T	c.(814-816)aAa>aTa	p.K272I	ASIC4_uc010fwi.2_Missense_Mutation_p.K272I|ASIC4_uc010fwj.2_Missense_Mutation_p.K272I|ASIC4_uc002vly.2_Missense_Mutation_p.K272I|ASIC4_uc002vma.3_Missense_Mutation_p.K272I|ASIC4_uc002vmb.3_5'Flank	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	272						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CTGCCCCCCAAAGACCGGGAT	0.622000														21			15		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974255	35974255	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:35974255A>T	uc004ddj.3	+	7	1418	c.1352A>T	c.(1351-1353)aAa>aTa	p.K451I	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	451								p.K450E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CACTTTAAAAAAACTGCAAAT	0.348000														3			29		0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167789556	167789556	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:167789556G>A	uc003qvv.1	-	5	798	c.586C>T	c.(586-588)Cca>Tca	p.P196S	TCP10_uc003qvu.3_Missense_Mutation_p.P196S|TCP10_uc003qvw.3_3'UTR	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	223						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGGAAGATGGATGCATAATC	0.612000														18			7		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48691853	48691853	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:48691853C>T	uc003cuf.1	-	8	5231	c.5231G>A	c.(5230-5232)gGa>gAa	p.G1744E	CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Missense_Mutation_p.G1674E	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1674	EGF-like 4; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|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)		GGGGACACCTCCCAGAAGAAG	0.627000														25			14		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44856526	44856527	+	Missense_Mutation	DNP	CC	TT	TT	rs141676463	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:44856526_44856527CC>TT	uc003cnx.4	+	19	2656_2657	c.2507_2508CC>TT	c.(2506-2508)tcc>tTT	p.S836F	KIF15_uc010hiq.3_Missense_Mutation_p.S739F|KIF15_uc010hir.3_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	836					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AACAAACTTTCCGAAAGACACA	0.386000														48			15		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871128	8871128	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:8871128G>A	uc002qzc.2	-	29	5220	c.5038C>T	c.(5038-5040)Ccc>Tcc	p.P1680S	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.P1581S|KIDINS220_uc002qzb.2_Missense_Mutation_p.P534S	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1680					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGGTGCTGGGAGTTCGGTTC	0.478000														32			38		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496835	216496835	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:216496835C>T	uc001hku.1	-	7	1918	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	USH2A_uc001hkv.3_Missense_Mutation_p.E511K	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	511	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGGTGATTTCGTCCACTGCA	0.378000										HNSCC(13;0.011)				6			115		0	0	1	0	0
DRAM1	55332	broad.mit.edu	37	12	102295138	102295138	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:102295138C>T	uc001tix.3	+	2	732	c.269C>T	c.(268-270)cCt>cTt	p.P90L	DRAM1_uc010svv.2_Missense_Mutation_p.P90L	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	Homo sapiens DNA-damage regulated autophagy modulator 1 (DRAM1), mRNA.	90					apoptosis|autophagy	integral to membrane|lysosomal membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TTCAGCACTCCTGTTTTTAAC	0.388000														17			27		0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17412109	17412109	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:17412109C>T	uc002ngb.4	-	1	557	c.317G>A	c.(316-318)gGg>gAg	p.G106E		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	106							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCCATTCTGCCCGTGTAGGAG	0.721000														39			21		0	0	1	0	0
BTC	685	broad.mit.edu	37	4	75681110	75681110	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:75681110C>T	uc003hig.2	-	2	587	c.240G>A	c.(238-240)ggG>ggA	p.G80G		NM_001729	NP_001720	P35070	BTC_HUMAN	Homo sapiens betacellulin (BTC), mRNA.	80	EGF-like.				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			AGCGGCATCTCCCTTTGATGC	0.532000														77			25		0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122351025	122351025	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:122351025G>A	uc003efm.2	+	9	1597	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	PARP15_uc003efn.2_Missense_Mutation_p.D316N|PARP15_uc003efo.1_Missense_Mutation_p.D258N|PARP15_uc003efp.1_Missense_Mutation_p.D277N|PARP15_uc011bjt.1_Missense_Mutation_p.D208N	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	489	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TACCATAAAGGACAAGTTCAC	0.378000														11			21		0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67266055	67266056	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:67266055_67266056GG>AA	uc002esl.3	-	13	2200_2201	c.2088_2089CC>TT	c.(2086-2091)gacccc>gaTTcc	p.P697S	FHOD1_uc010ced.3_Missense_Mutation_p.P504S	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	697	FH2.|Interaction with ROCK1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTGCGCTTGGGGTCCAGCACTG	0.579000														33			32		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79083524	79083524	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:79083524G>A	uc002bej.4	-	4	1072	c.861C>T	c.(859-861)atC>atT	p.I287I	ADAMTS7_uc010und.1_Silent_p.I287I|ADAMTS7_uc002bek.1_Silent_p.I287I	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	287	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGGTGATGTGGATGGGGTTCC	0.602000														56			18		0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140909190	140909190	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140909190G>A	uc003llb.4	-	19	2797	c.2656C>T	c.(2656-2658)Ctg>Ttg	p.L886L	DIAPH1_uc003llc.4_Silent_p.L877L|DIAPH1_uc021yep.1_Silent_p.L886L|DIAPH1_uc021yeq.1_Silent_p.L877L|DIAPH1_uc010jgc.1_Silent_p.L322L	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	886	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor 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)			GACTCAGTCAGAACAGCCTCA	0.478000														22			94		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964176	109964176	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:109964176G>A	uc010ywt.1	+	1	620	c.620G>A	c.(619-621)gGg>gAg	p.G207E		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	207	SH3 1.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGCTACGAGGGGAAGGAACCT	0.597000														13			7		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142381	177142381	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:177142381G>A	uc003iuq.2	-	4	709	c.595C>T	c.(595-597)Cct>Tct	p.P199S	ASB5_uc003iup.2_Missense_Mutation_p.P146S	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	199					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CCCAAATGAGGAATTTCTTGG	0.413000														27			31		0	0	1	0	0
TPD52L1	7164	broad.mit.edu	37	6	125583982	125583982	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:125583982G>A	uc003pzu.1	+	6	708	c.489G>A	c.(487-489)acG>acA	p.T163T	TPD52L1_uc003pzv.1_Missense_Mutation_p.R143Q|TPD52L1_uc003pzw.1_Missense_Mutation_p.R130Q|TPD52L1_uc003pzy.1_Silent_p.T134T|TPD52L1_uc003pzz.1_Missense_Mutation_p.R101Q	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.	163					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	p.K162N(1)		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)		CATTTCAGACGAAAGTAGGCG	0.463000														41			6		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861122	55861122	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:55861122C>T	uc010rix.2	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTGAGTGTTTCCTTCTGGGAT	0.428000														69			27		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026739	61026739	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:61026739C>T	uc001nra.3	-	19	2555	c.2276G>A	c.(2275-2277)gGa>gAa	p.G759E	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	759						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGCCACATTTCCGTGAGGGGA	0.582000														44			13		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786772	121786772	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:121786772G>A	uc003ksw.1	+	9	2436	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N	SNCAIP_uc011cwl.1_Missense_Mutation_p.D302N|SNCAIP_uc003ksy.1_Missense_Mutation_p.D378N|SNCAIP_uc003ksx.1_Missense_Mutation_p.D791N|SNCAIP_uc003ksz.1_Missense_Mutation_p.D378N|SNCAIP_uc010jcu.2_Missense_Mutation_p.D340N|SNCAIP_uc011cwm.1_Missense_Mutation_p.D378N|SNCAIP_uc003kta.1_Missense_Mutation_p.D376N|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.D438N|SNCAIP_uc010jcx.1_Missense_Mutation_p.D684N|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.D260N	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	744					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)		CAAATCCCTGGATGGCCACAG	0.542000														6			12		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685446	125685446	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:125685446G>A	uc022cds.1	-	0	1146	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	DCAF12L1_uc004eul.3_Silent_p.F382F	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	382										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTTCCTCCAGGAATTTCTGGG	0.612000														2			32		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693102	187693102	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:187693102G>A	uc002upu.1	-	8	1551	c.1511C>T	c.(1510-1512)tCa>tTa	p.S504L		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	504					apoptosis		zinc ion binding			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)			TTTCCCAAATGACACAGTGGG	0.333000														18			6		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76440868	76440868	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:76440868C>T	uc010dhp.2	-	70	11471	c.11346G>A	c.(11344-11346)gaG>gaA	p.E3782E	DNAH17_uc002jvq.3_Silent_p.E67E|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											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)			ACTCATCCATCTCCGAGAGGG	0.577000														8			21		0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20942962	20942962	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:20942962C>T	uc001vxo.4	+	3	462	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L	PNP_uc010ahn.3_3'UTR|PNP_uc021rns.1_5'UTR	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	106					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	TTTCCACCTTCTGGGTGTGGA	0.448000														6			9		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633954	70633954	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:70633954A>T	uc001xly.3	-	1	1940	c.1186T>A	c.(1186-1188)Tcc>Acc	p.S396T	SLC8A3_uc001xlw.3_Missense_Mutation_p.S396T|SLC8A3_uc001xlx.3_Missense_Mutation_p.S396T|SLC8A3_uc001xlz.3_Missense_Mutation_p.S396T|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	396	Calx-beta 1.				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)		AAGACCTTGGAAATAAAGTCC	0.517000														61			26		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899221	112899221	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:112899221C>T	uc004bei.2	+	8	2285	c.2093C>T	c.(2092-2094)cCt>cTt	p.P698L	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.P466L|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.P466L|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.P276L|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.P324L|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.P324L|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.P284L|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.P235L|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.P235L	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	235							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAGAAGAATCCTGGCATTGCA	0.522000														4			49		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90146076	90146076	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:90146076C>G	uc002boe.3	+	12	2617	c.2617C>G	c.(2617-2619)Ctt>Gtt	p.L873V	C15orf42_uc021sug.1_Missense_Mutation_p.L872V	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	873					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCACAGAATCTTCGACAAAT	0.303000														9			10		0	0	1	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003217	23003217	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:23003217T>G	uc003xcz.1	-	4	792	c.700A>C	c.(700-702)Aag>Cag	p.K234Q		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	234					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity	p.K234K(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		ATGAATTTCTTCCGACATGAA	0.517000														49			18		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64210724	64210724	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:64210724C>T	uc002jfn.4	-	6	888	c.829G>A	c.(829-831)Gga>Aga	p.G277R		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	277	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			ACTCTCTCTCCTTGGTACACC	0.353000														10			36		0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179977461	179977461	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179977461A>T	uc002uni.4	-	16	2101	c.1951T>A	c.(1951-1953)Tat>Aat	p.Y651N	SESTD1_uc002unh.4_Missense_Mutation_p.Y154N	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	651					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCATCAGGATAAACTACTGGA	0.338000														27			30		0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116812057	116812057	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:116812057C>T	uc004bid.3	+	14	2574	c.2475C>T	c.(2473-2475)atC>atT	p.I825I	ZNF618_uc004bic.3_Silent_p.I732I|ZNF618_uc011lxi.2_Silent_p.I792I|ZNF618_uc011lxj.2_Silent_p.I793I|ZNF618_uc010mvb.3_Silent_p.I415I	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	825					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACGAGGAGATCATCGGCAAGG	0.637000														6			65		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254555	3254555	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:3254555C>T	uc010uwu.2	+	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGATGTATTTCGTTTTCATGT	0.493000														124			79		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381566	81381566	+	Silent	SNP	C	T	T	rs137853235		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:81381566C>T	uc003uhl.3	-	4	660	c.495G>A	c.(493-495)tcG>tcA	p.S165S	HGF_uc003uhm.3_Intron|HGF_uc003uhn.1_Silent_p.S165S|HGF_uc003uho.1_Intron|HGF_uc003uhp.3_Silent_p.S165S	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	165	Kringle 1.				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			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						CCCGATAGCTCGAAGGCAAAA	0.403000														45			16		0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165703450	165703450	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:165703450C>T	uc003qum.4	-	6	1263	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	409										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)		TTTCTTTTTCCAGAGCTTGTA	0.323000														10			18		0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47918528	47918528	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:47918528A>T	uc002let.3	+	6	863	c.679A>T	c.(679-681)Aag>Tag	p.K227*	SKA1_uc002leu.3_Nonsense_Mutation_p.K227*|SKA1_uc010xdl.2_Nonsense_Mutation_p.K181*	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA.	227					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						AGCTGACAAGAAGTTTCACGT	0.393000														70			14		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575193	74575193	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:74575193C>T	uc001dfy.4	-	4	944	c.752G>A	c.(751-753)aGa>aAa	p.R251K	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	251								p.R251R(1)		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						TTCATATCCTCTAATAATTTT	0.318000														6			47		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99225895	99225895	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:99225895A>G	uc001tge.2	-	17	3215	c.2798T>C	c.(2797-2799)aTt>aCt	p.I933T	ANKS1B_uc001tgf.2_Missense_Mutation_p.I509T|ANKS1B_uc001tgk.3_Missense_Mutation_p.I230T|ANKS1B_uc010svd.2_5'UTR|ANKS1B_uc001tgd.2_Missense_Mutation_p.I159T|ANKS1B_uc009ztp.3_5'UTR|ANKS1B_uc010svf.2_5'UTR|ANKS1B_uc010sve.2_5'UTR|ANKS1B_uc001tgh.4_5'UTR|ANKS1B_uc009ztr.3_Missense_Mutation_p.I159T|ANKS1B_uc001tgj.3_Missense_Mutation_p.I159T|ANKS1B_uc001tgi.3_Missense_Mutation_p.I159T|ANKS1B_uc009zts.2_Missense_Mutation_p.I159T|ANKS1B_uc001tgg.4_Intron|ANKS1B_uc010svg.2_Missense_Mutation_p.I128T	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	933	SAM 2.					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)		CCTGTGGCCAATCAAATTGAT	0.423000														2			2		0	0	1	0	0
HOXA4	3201	broad.mit.edu	37	7	27168930	27168930	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:27168930G>A	uc003sym.4	-	1	924	c.877C>T	c.(877-879)Cca>Tca	p.P293S	HOXA3_uc003syk.3_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	Homo sapiens homeobox A4 (HOXA4), mRNA.	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TTCCCTGGTGGGCCGGCAGAG	0.562000														32			40		0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129769350	129769350	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:129769350C>T	uc003vpj.2	+	8	1188	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	KLHDC10_uc003vpk.2_Silent_p.F322F|KLHDC10_uc010lmb.2_Silent_p.F248F	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	351										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TGCAGACTTTCCAATGGGTGA	0.408000														52			45		0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19062415	19062415	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:19062415C>T	uc001bay.3	+	7	2043	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	PAX7_uc001baz.3_Missense_Mutation_p.S480F|PAX7_uc010oct.2_Intron	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	482					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)		CCCATTCCTTCTCCCACCCCC	0.607000			T	FOXO1A	alveolar rhabdomyosarcoma									5			59		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369489	56369489	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:56369489G>A	uc002qmd.4	+	2	1152	c.730G>A	c.(730-732)Gat>Aat	p.D244N	NLRP4_uc002qmf.3_Missense_Mutation_p.D169N|NLRP4_uc010etf.3_Missense_Mutation_p.D75N	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	244	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAACGAACCCGATTCGGATCT	0.562000														49			38		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36143410	36143410	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:36143410A>C	uc003jkb.1	-	1	457	c.42T>G	c.(40-42)ttT>ttG	p.F14L		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	14						integral to membrane		p.V13F(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGCCAGAAAAAAGACAAAAA	0.368000														22			43		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130777906	130777906	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:130777906C>T	uc003ysr.3	-	3	1420	c.538G>A	c.(538-540)Ggg>Agg	p.G180R		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	180						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GCAATTTTCCCTAAAATATTC	0.448000														184			56		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54936445	54936445	+	Silent	SNP	G	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:54936445G>T	uc001sgc.4	+	30	3439	c.3360G>T	c.(3358-3360)gtG>gtT	p.V1120V	NCKAP1L_uc010sox.2_Silent_p.V662V|NCKAP1L_uc010soy.2_Silent_p.V1070V	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	1120					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATCGGGAGGTGTCTCGGGCCT	0.537000														44			16		2.32078e-09	2.32581e-09	1	1	0
BTNL8	79908	broad.mit.edu	37	5	180338561	180338561	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:180338561C>T	uc003mmp.3	+	2	854	c.620C>T	c.(619-621)tCc>tTc	p.S207F	BTNL8_uc003mmq.3_Missense_Mutation_p.S207F|BTNL8_uc010jll.3_Missense_Mutation_p.S207F|BTNL8_uc011dhg.2_Missense_Mutation_p.S82F|BTNL8_uc010jlm.3_Missense_Mutation_p.S91F|BTNL8_uc011dhh.2_Missense_Mutation_p.S23F	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	207	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATATCCTGTTCCATGCGGCAT	0.547000														72			26		0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24921762	24921762	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:24921762G>A	uc003aaf.3	+	9	2450	c.1155G>A	c.(1153-1155)taG>taA	p.*385*	UPB1_uc003aae.3_Silent_p.*317*|UPB1_uc021wnh.1_Non-coding_Transcript	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	0					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TGAAAGAGTAGCCGGCTTCAG	0.542000											OREG0026412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			71		0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639949	97639949	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:97639949C>T	uc001vmx.1	-	3	309	c.65G>A	c.(64-66)gGa>gAa	p.G22E	OXGR1_uc010afr.1_Missense_Mutation_p.G22E|OXGR1_uc021rlr.1_Missense_Mutation_p.G22E	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	22						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.G22V(2)		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)			AGTGCAATTTCCAAAAGCAGC	0.418000														43			23		0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220366257	220366257	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:220366257C>T	uc002vlv.3	+	3	573	c.198C>T	c.(196-198)acC>acT	p.T66T	GMPPA_uc002vlr.3_Silent_p.T66T	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	66					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	p.L65fs*5(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AGCCCCTCACCCAGTTCCTAG	0.532000														95			41		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816266	82816266	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:82816266G>A	uc003kii.3	+	6	2497	c.2141G>A	c.(2140-2142)gGa>gAa	p.G714E	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G714E|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	714	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)		CCATTTATGGGAAAAACAGAA	0.363000														49			13		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4944542	4944542	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:4944542C>T	uc002cyd.1	-	11	1410	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	440					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						TCAGCTTGTTCCCAGCGCTGT	0.637000														49			36		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139277951	139277951	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:139277951C>T	uc003yuy.3	-	3	463	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	98										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)			CTTACCCTTTCACCACCCAAG	0.463000										HNSCC(54;0.14)				58			30		0	0	1	0	0
AGR2	10551	broad.mit.edu	37	7	16841388	16841388	+	Silent	SNP	G	T	T	rs142256080	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:16841388G>T	uc003str.3	-	1	220	c.33C>A	c.(31-33)ctC>ctA	p.L11L	AGR2_uc011jxy.2_Silent_p.L11L	NM_006408	NP_006399	O95994	AGR2_HUMAN	Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA.	11					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GGGCCACAAGGAGCAAGAATG	0.478000														23			21		1.28384e-07	1.28523e-07	1	1	0
CYTIP	9595	broad.mit.edu	37	2	158272554	158272554	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:158272554G>A	uc002tzj.1	-	7	787	c.715C>T	c.(715-717)Cga>Tga	p.R239*	CYTIP_uc010zcl.1_Nonsense_Mutation_p.R133*	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	239					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTGGATAATCGATTCCGGTCC	0.542000														21			12		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42606416	42606416	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:42606416G>A	uc003bcj.1	-	0	5030	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	TCF20_uc003bck.1_Silent_p.Y1632Y	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGATGTAAGGGTAAAAAGACT	0.428000														91			103		0	0	1	0	0
GTPBP6	8225	broad.mit.edu	37	X	224139	224139	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:224139G>A	uc004cpe.1	-	4	629	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L		NM_012227	NP_036359	O43824	GTPB6_HUMAN	Homo sapiens GTP binding protein 6 (putative) (GTPBP6), mRNA.	439						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		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)				TGGCCCCGCAGGGCAGACACG	0.672000														15			9		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63175670	63175670	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:63175670G>A	uc001nww.3	+	7	1643	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	459					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCATGGAAATGAAGTAATTCC	0.453000														18			16		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053144	15053144	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:15053144C>T	uc010xoc.2	+	0	844	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CATGGTCACCCCCATGCTGAA	0.547000														48			35		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401043	89401043	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:89401043C>T	uc010upo.1	+	11	5601	c.5227C>T	c.(5227-5229)Cct>Tct	p.P1743S	ACAN_uc010upp.1_Missense_Mutation_p.P1743S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1743					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ATCAGGGTTTCCTGACACTAG	0.522000														64			90		0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129760637	129760637	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:129760637C>T	uc003vpj.2	+	3	659	c.524C>T	c.(523-525)cCa>cTa	p.P175L	KLHDC10_uc003vpk.2_Missense_Mutation_p.P146L|KLHDC10_uc010lmb.2_Missense_Mutation_p.P72L	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	175										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						ACGGGCATCCCATTTGGAGAG	0.463000														58			80		0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8787215	8787215	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:8787215G>A	uc003bra.3	+	1	195	c.118G>A	c.(118-120)Gat>Aat	p.D40N	C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Missense_Mutation_p.D40N	NM_001234	NP_001225	P56539	CAV3_HUMAN	Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.	40					T-tubule organization|cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization	Golgi membrane|T-tubule|caveola|dystrophin-associated glycoprotein complex|neuromuscular junction	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CCTGCAGGTGGATTTTGAAGA	0.557000														12			3		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617379	158617379	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:158617379C>T	uc001fst.1	-	26	4045	c.3846G>A	c.(3844-3846)aaG>aaA	p.K1282K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1282					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	p.R1281C(1)		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)					TTAGGCTCTCCTTACGATCCT	0.537000														5			116		0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890400	88890400	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:88890400G>A	uc002stc.4	-	4	1240	c.938C>T	c.(937-939)tCg>tTg	p.S313L		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	313					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTCAGCAACCGAAACCTTTAT	0.418000														85			43		0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112440037	112440037	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:112440037A>C	uc003kql.4	-	6	1459	c.1043T>G	c.(1042-1044)cTg>cGg	p.L348R	MCC_uc003kqj.4_Missense_Mutation_p.L158R|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.L158R|MCC_uc010jcd.1_Missense_Mutation_p.L120R	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	158					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	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)		TTCTGAGTTCAGGTCACTGCA	0.517000														39			269		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46795743	46795743	+	Silent	SNP	G	A	A	rs141170525		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:46795743G>A	uc003bhw.1	-	9	5283	c.5283C>T	c.(5281-5283)tcC>tcT	p.S1761S	CELSR1_uc011arc.1_Silent_p.S82S	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1761	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|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)		ACAGCATCACGGACTCCACAT	0.567000														34			27		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136252	55136252	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:55136252C>T	uc010rif.2	+	0	893	c.893C>T	c.(892-894)tCc>tTc	p.S298F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	298					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						ATTGATAAATCCATGACTGTA	0.403000														151			34		0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646521	19646521	+	Missense_Mutation	SNP	T	A	A	rs117328009	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:19646521T>A	uc002gwk.3	-	1	431	c.168A>T	c.(166-168)gaA>gaT	p.E56D	ALDH3A1_uc010cqu.3_Intron|ALDH3A1_uc010vzd.2_Intron|ALDH3A1_uc002gwj.3_Intron|ALDH3A1_uc010cqv.3_Intron|ALDH3A1_uc002gwl.1_Intron			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	0					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CTCCCCCAGCTTCCCTTCCCA	0.627000														3			19		0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30253528	30253528	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:30253528A>T	uc001msl.3	+	1	148	c.79A>T	c.(79-81)Acc>Tcc	p.T27S	FSHB_uc001msm.3_Missense_Mutation_p.T27S|FSHB_uc001msn.3_Missense_Mutation_p.T27S	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	27					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GACCAACATCACCATTGCAAT	0.453000														17			32		0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189153	38189153	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:38189153G>A	uc002ohc.2	-	4	2475	c.1879C>T	c.(1879-1881)Cac>Tac	p.H627Y	ZNF607_uc002ohb.2_Missense_Mutation_p.H626Y	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAGGCACAGTGAAATGCCTTC	0.378000														16			13		0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150464597	150464597	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:150464597G>A	uc003qnt.3	+	0	410	c.269G>A	c.(268-270)tGg>tAg	p.W90*		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	90					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		CTGGAGGAATGGATCGTGGAG	0.627000														13			7		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958589	121958589	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:121958589G>A	uc003idq.1	-	3	1064	c.537C>T	c.(535-537)gaC>gaT	p.D179D		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	179										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CTACTCTTGGGTCATAGGGTA	0.483000														88			47		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270358	1270358	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:1270358G>A	uc001lta.3	+	30	12307	c.12248G>A	c.(12247-12249)gGg>gAg	p.G4083E		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4083	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTTCCCCAGGGACGACCACC	0.701000														90			19		0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32754731	32754731	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:32754731C>T	uc011axj.1	+	4	700	c.623C>T	c.(622-624)gCc>gTc	p.A208V	CNOT10_uc011axi.1_Intron|CNOT10_uc003cfc.1_Missense_Mutation_p.A148V|CNOT10_uc003cfd.1_Missense_Mutation_p.A147V|CNOT10_uc003cfe.1_Missense_Mutation_p.A148V|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_5'UTR	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	148					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GAAAAATTTGCCCAAGCAGTG	0.363000														33			8		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32053982	32053982	+	Silent	SNP	T	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:32053982T>G	uc003jhl.3	+	9	2281	c.1893T>G	c.(1891-1893)ctT>ctG	p.L631L	PDZD2_uc003jhm.3_Silent_p.L631L|PDZD2_uc011cnx.1_Silent_p.L457L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	631	PDZ 3.				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						ACGGAAGACTTAAAGAAGGTA	0.473000														26			63		0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68326138	68326138	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:68326138G>T	uc001onv.3	+	7	1103	c.836G>T	c.(835-837)cGa>cTa	p.R279L	PPP6R3_uc001onw.3_Missense_Mutation_p.R279L|PPP6R3_uc001ony.4_Missense_Mutation_p.R279L|PPP6R3_uc001onx.3_Missense_Mutation_p.R279L|PPP6R3_uc009ysh.3_Missense_Mutation_p.R279L|PPP6R3_uc001onu.3_Missense_Mutation_p.R279L|PPP6R3_uc010rqc.2_Intron|PPP6R3_uc010rqd.2_5'UTR	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	279					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTTGAGACACGACGACCAACG	0.348000														29			52		4.29476e-34	4.35115e-34	1	1	0
NOLC1	9221	broad.mit.edu	37	10	103919770	103919770	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:103919770G>C	uc001kup.2	+	7	1242	c.1007G>C	c.(1006-1008)aGt>aCt	p.S336T	NOLC1_uc001kuo.2_Missense_Mutation_p.S326T|NOLC1_uc001kuq.2_Missense_Mutation_p.S327T|NOLC1_uc009xxb.1_Missense_Mutation_p.S45T|NOLC1_uc001kur.2_Missense_Mutation_p.S45T	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	326	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GAAGACAGCAGTGATGAGTCT	0.587000														0			6		0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151740640	151740640	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:151740640G>A	uc010pdm.2	+	3	477	c.407G>A	c.(406-408)gGc>gAc	p.G136D	OAZ3_uc010pdl.2_Missense_Mutation_p.G92D	NM_016178	NP_057262	Q9UMX2	OAZ3_HUMAN	Homo sapiens ornithine decarboxylase antizyme 3 (OAZ3), transcript variant 1, mRNA.	89					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity	p.G136C(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CATTGGCACGGCCTTCTCTGT	0.567000														1			45		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72137929	72137929	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:72137929C>T	uc001xms.3	+	7	2710	c.2349C>T	c.(2347-2349)ttC>ttT	p.F783F	SIPA1L1_uc001xmt.3_Silent_p.F783F|SIPA1L1_uc001xmu.3_Silent_p.F783F|SIPA1L1_uc001xmv.3_Silent_p.F783F|SIPA1L1_uc010ttm.2_Silent_p.F258F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	783	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCAGGGACTTCCTTTTGGCGA	0.498000														84			39		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58204181	58204181	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:58204181G>A	uc001sqj.2	-	5	741	c.712C>T	c.(712-714)Cct>Tct	p.P238S	AVIL_uc009zqe.2_Missense_Mutation_p.P231S|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Missense_Mutation_p.P215S|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	238	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ATCTCATCAGGGACTGTAGGC	0.512000														19			20		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50346415	50346415	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:50346415G>A	uc002xwg.1	-	1	171	c.171C>T	c.(169-171)gtC>gtT	p.V57V	ATP9A_uc010gih.1_Silent_p.V42V	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	57					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						GATTGTTGATGACATTCCGAG	0.547000														83			75		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88912640	88912640	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:88912640C>T	uc001tav.3	-	3	392	c.197G>A	c.(196-198)aGt>aAt	p.S66N	KITLG_uc009zsn.3_5'UTR|KITLG_uc001taw.3_Missense_Mutation_p.S66N|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	66					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						CCAACAATGACTTGGCTGCAA	0.353000									Testicular Cancer, Familial Clustering of					19			8		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687925	60687925	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:60687925C>T	uc002sae.1	-	3	2350	c.2122G>A	c.(2122-2124)Gga>Aga	p.G708R	BCL11A_uc002sab.3_Missense_Mutation_p.G708R|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.G377R|BCL11A_uc010ypj.2_Missense_Mutation_p.G674R|BCL11A_uc002sad.1_Missense_Mutation_p.G556R|BCL11A_uc002saf.1_Missense_Mutation_p.G674R	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	708					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGATCCCTCCGTCCAGCTCC	0.657000			T	IGH@	B-CLL									43			54		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21330947	21330947	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:21330947G>A	uc002kuq.3	+	4	836	c.750G>A	c.(748-750)agG>agA	p.R250R	LAMA3_uc010dlv.2_Silent_p.R250R|LAMA3_uc002kur.3_Silent_p.R250R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	250	Laminin N-terminal.				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)	ACACCCTGAGGGAGTTTACCA	0.458000														89			12		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325284	77325284	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:77325284C>T	uc002ffc.4	-	20	3700	c.3281G>A	c.(3280-3282)cGa>cAa	p.R1094Q		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1094	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1094Q(4)		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						ACGGCATCTTCGCTCTGGGAA	0.522000														124			144		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23189627	23189627	+	Silent	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:23189627T>C	uc009vqj.1	+	3	1054	c.909T>C	c.(907-909)tgT>tgC	p.C303C	EPHB2_uc001bge.3_Silent_p.C303C|EPHB2_uc001bgf.3_Silent_p.C303C|EPHB2_uc010odu.2_Silent_p.C303C	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	303	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCACCAACTGTGTCTGCCGCA	0.602000														98			9		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10697801	10697801	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:10697801A>G	uc002kos.2	-	40	6607	c.6433T>C	c.(6433-6435)Tat>Cat	p.Y2145H	PIEZO2_uc002koq.3_5'UTR	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2145						integral to membrane	ion channel activity										TTTTCCATATAAAGTTCCCTT	0.363000														35			5		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222291272	222291272	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:222291272G>A	uc002vmq.3	-	15	2800	c.2758C>T	c.(2758-2760)Ctc>Ttc	p.L920F	EPHA4_uc002vmr.2_Missense_Mutation_p.L920F|EPHA4_uc010zlm.1_Missense_Mutation_p.L861F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	920	SAM.					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)		ATGGCCTGGAGCCAATCGCCC	0.468000														12			14		0	0	1	0	0
MOBP	4336	broad.mit.edu	37	3	39543680	39543680	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:39543680G>A	uc003cjv.3	+	2	370	c.120G>A	c.(118-120)gtG>gtA	p.V40V	MOBP_uc003cju.3_Silent_p.V40V|MOBP_uc003cjw.3_Non-coding_Transcript|MOBP_uc010hht.3_Silent_p.V40V|MOBP_uc003cjx.3_Non-coding_Transcript|MOBP_uc003cjy.3_Non-coding_Transcript	NM_182935	NP_891980	Q13875	MOBP_HUMAN	Homo sapiens myelin-associated oligodendrocyte basic protein (MOBP), mRNA.	40					nervous system development	nucleolus|perinuclear region of cytoplasm|soluble fraction				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		AGGAGATAGTGGATCGGAAAT	0.542000														42			17		0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10224058	10224058	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:10224058G>A	uc001qxb.3	-	5	801	c.717C>T	c.(715-717)atC>atT	p.I239I	CLEC1A_uc001qxd.3_Silent_p.I196I|CLEC1A_uc010sgx.2_Silent_p.I137I	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	239	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TCCCATTAAGGATGGCCACAC	0.433000														43			67		0	0	1	0	0
NDUFA6	4700	broad.mit.edu	37	22	42483172	42483172	+	Silent	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:42483172T>C	uc003bcb.3	-	1	287	c.225A>G	c.(223-225)caA>caG	p.Q75Q		NM_002490	NP_002481	P56556	NDUA6_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa (NDUFA6), nuclear gene encoding mitochondrial protein, mRNA.	75					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5					NADH(DB00157)	CCAGCTGGAATTGGTGCACTA	0.428000														88			43		0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684346	44684346	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:44684346T>A	uc003cnm.3	+	5	1930	c.1724T>A	c.(1723-1725)tTc>tAc	p.F575Y	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	575					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F575L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GGAAAAGTTTTCATTCGAAGC	0.403000														14			38		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92101078	92101078	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:92101078G>A	uc010tif.2	+	1	593	c.227G>A	c.(226-228)aGa>aAa	p.R76K		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	76						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)				ATGGAGGAGAGATATCAGATT	0.428000														37			106		0	0	1	0	0
PHF17	79960	broad.mit.edu	37	4	129782889	129782889	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:129782889C>T	uc011cgy.2	+	8	1326	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y	PHF17_uc003igj.3_Missense_Mutation_p.H338Y|PHF17_uc003igk.3_Missense_Mutation_p.H338Y|PHF17_uc003igl.3_Missense_Mutation_p.H326Y|PHF17_uc003igm.3_Missense_Mutation_p.H338Y	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	338					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CACAGCCTTCCATGTGACCTG	0.483000														66			40		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396306	65396306	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:65396306C>T	uc001oey.2	+	23	3828	c.3828C>T	c.(3826-3828)ttC>ttT	p.F1276F	PCNXL3_uc001oez.2_Silent_p.F163F	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1276						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCATGCTGTTCGTCCAGGCCC	0.667000														10			14		0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964539	176964539	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:176964539C>T	uc010zev.1	+	0	10	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C	HOXD12_uc021vsp.1_Missense_Mutation_p.R4C	NM_021193	NP_067016	P35452	HXD12_HUMAN	Homo sapiens homeobox D12 (HOXD12), mRNA.	4						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GATGTGTGAGCGCAGTCTCTA	0.542000														127			4		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96454741	96454741	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:96454741C>T	uc001kjv.4	+	3	875	c.549C>T	c.(547-549)ttC>ttT	p.F183F	CYP2C19_uc001kjw.4_Silent_p.F183F|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	183					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)	CTGTTATTTTCCATGATCGAT	0.393000														13			45		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83935762	83935762	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:83935762G>A	uc002bjt.1	-	2	349	c.261C>T	c.(259-261)tcC>tcT	p.S87S	BNC1_uc010uos.1_Silent_p.S75S	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	87					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACACTACATTGGACTGGACAA	0.458000														39			20		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70034817	70034817	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:70034817C>T	uc010kak.3	+	19	3144	c.2868C>T	c.(2866-2868)ttC>ttT	p.F956F	BAI3_uc003pev.4_Silent_p.F956F|BAI3_uc011dxx.2_Silent_p.F162F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	956					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGCTTCATTCTGTTGGGTTT	0.433000														17			30		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281999	152281999	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:152281999C>T	uc001ezu.1	-	2	5399	c.5363G>A	c.(5362-5364)gGa>gAa	p.G1788E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1788	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTTGTCTTCCTCCAGTGCT	0.597000									Ichthyosis					30			517		0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46965077	46965077	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:46965077C>T	uc001jea.3	-	5	1021	c.868G>A	c.(868-870)Gac>Aac	p.D290N	SYT15_uc001jdz.2_Missense_Mutation_p.D290N|SYT15_uc001jeb.3_Missense_Mutation_p.D168N|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	290	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTCAGGTAGTCGTTGTAGCTG	0.622000														19			12		0	0	1	0	0
ATG16L2	89849	broad.mit.edu	37	11	72535790	72535790	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:72535790G>A	uc001otd.3	+	8	939	c.899G>A	c.(898-900)aGg>aAg	p.R300K	ATG16L2_uc010rrf.1_3'UTR|ATG16L2_uc001ote.3_Missense_Mutation_p.R194K|ATG16L2_uc009ytj.2_Intron	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	300					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			TTTAAGAAGAGGAGAGGTCAC	0.582000														32			10		0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53509922	53509922	+	Silent	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:53509922T>A	uc001sbv.3	+	6	838	c.750T>A	c.(748-750)gcT>gcA	p.A250A	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	250					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TGAGAGAGGCTGTGCCTGGGA	0.532000														33			20		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915041	48915041	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:48915041C>T	uc002rwu.4	-	10	1965	c.1895G>A	c.(1894-1896)aGa>aAa	p.R632K	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	632					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			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)	AAAGAAATCTCTTTGGAATGT	0.358000														104			61		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104511031	104511031	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:104511031G>A	uc003hxe.1	-	4	1347	c.1206C>T	c.(1204-1206)acC>acT	p.T402T		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	402						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)		TTCTGGTCACGGTGTACATAC	0.502000														91			95		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105662801	105662801	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:105662801G>A	uc003vdl.4	+	13	2091	c.1983G>A	c.(1981-1983)agG>agA	p.R661R	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Silent_p.R648R|CDHR3_uc011klt.2_Silent_p.R573R|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	661	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TGTCTGACAGGAAGAAAGCGG	0.478000														85			85		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89971215	89971215	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:89971215G>A	uc003kju.3	+	23	5362	c.5266G>A	c.(5266-5268)Gaa>Aaa	p.E1756K	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1756					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		GGTGACTGCGGAATTTAGAAC	0.453000														13			24		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50906827	50906828	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:50906827_50906828CC>TT	uc010eny.3	+	8	1216_1217	c.1215_1216CC>TT	c.(1213-1218)tacctc>taTTtc	p.L406F	POLD1_uc002psb.4_Missense_Mutation_p.L406F|POLD1_uc002psc.4_Missense_Mutation_p.L406F|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	406					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACCTTCCGTACCTCATCTCTCG	0.629000								DNA polymerases (catalytic subunits)						76			59		0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234249108	234249108	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:234249108G>A	uc002vuh.2	+	12	1418	c.1030G>A	c.(1030-1032)Gga>Aga	p.G344R	SAG_uc010zmq.1_Missense_Mutation_p.G210R	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	344					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TAGCTTTCTGGGAGAGCTCAC	0.478000														7			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179554089	179554089	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179554089G>C	uc021vsy.1	-	120	28432	c.28207C>G	c.(28207-28209)Cca>Gca	p.P9403A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6064A|TTN_uc010fre.1_Missense_Mutation_p.P514A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10330	Ig-like 77.						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)			TTCTTCTTTGGTATTTCTGGC	0.368000														24			9		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76660395	76660395	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:76660395C>T	uc003pik.1	-	12	1838	c.1708G>A	c.(1708-1710)Ggc>Agc	p.G570S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	570	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.G570G(1)		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)				AGCTCTCGGCCCTTGGGGGCA	0.498000														35			9		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411077	105411078	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:105411077_105411078GG>AA	uc010axc.1	-	6	10830_10831	c.10710_10711CC>TT	c.(10708-10713)gacctc>gaTTtc	p.L3571F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L3471F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3571						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCCTTGAGGTCCACTTTGG	0.614000														110			37		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99454470	99454470	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:99454470C>T	uc003ury.1	+	8	916	c.813C>T	c.(811-813)ttC>ttT	p.F271F	CYP3A43_uc003urx.1_Silent_p.F271F|CYP3A43_uc003urz.1_Silent_p.F271F|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Silent_p.F161F|CYP3A43_uc003usb.1_Silent_p.F131F	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	271			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GAGTAGATTTCTTTCAACAGA	0.443000														47			53		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9404510	9404510	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:9404510C>T	uc021wam.1	+	23	2414	c.2399C>T	c.(2398-2400)tCc>tTc	p.S800F	PLCB4_uc010gbw.1_Missense_Mutation_p.S800F|PLCB4_uc010gbx.3_Missense_Mutation_p.S812F|PLCB4_uc021wal.1_Missense_Mutation_p.S800F|PLCB4_uc002wnh.3_Missense_Mutation_p.S647F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	800					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						CGACACATTTCCCTTCGAAAT	0.418000														47			24		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023639	18023639	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:18023639G>A	uc021trm.1	+	0	1744	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	MYO15A_uc021trl.1_Missense_Mutation_p.D509N	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	509	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin 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)					CCCCTTGGGGGATGCGGACGA	0.652000														3			34		0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154960749	154960749	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:154960749C>T	uc001fgf.2	+	1	942	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	FLAD1_uc001fgc.3_Missense_Mutation_p.P82S|FLAD1_uc001fgd.2_Missense_Mutation_p.P181S|FLAD1_uc001fge.2_Missense_Mutation_p.P84S|FLAD1_uc001fgg.2_Missense_Mutation_p.P84S|FLAD1_uc021paj.1_Missense_Mutation_p.P82S|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	181	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGCATCGGCCCCACTCATGA	0.567000														11			156		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181598	128181598	+	Missense_Mutation	SNP	A	G	G	rs147724414		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:128181598A>G	uc003ekk.1	-	2	2152	c.491T>C	c.(490-492)tTc>tCc	p.F164S	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.F164S	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	164					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGTGGATGAGAAGGTGGTGTG	0.602000														28			4		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7983597	7983597	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:7983597T>A	uc002gjy.1	-	5	971	c.710A>T	c.(709-711)aAg>aTg	p.K237M	BC046191_uc010cnq.2_Non-coding_Transcript	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	237	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CCTAATGTCCTTCAGCCTCTT	0.582000										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			89		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471397	4471397	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:4471397C>T	uc001lyz.2	+	0	873	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTCCACATCCTCCTTGCCA	0.498000														93			22		0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110782767	110782767	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:110782767C>T	uc001tqk.4	+	16	3161	c.2598C>T	c.(2596-2598)ttC>ttT	p.F866F	ATP2A2_uc001tql.4_Silent_p.F866F|ATP2A2_uc021rdt.1_Silent_p.F714F|ATP2A2_uc001tqn.4_5'Flank|ATP2A2_uc009zvn.3_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	866					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GAGTGTCCTTCTACCAGCTGG	0.498000														34			11		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	76003131	76003131	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:76003131G>A	uc003kek.3	+	35	4943	c.4721G>A	c.(4720-4722)gGa>gAa	p.G1574E	IQGAP2_uc011csv.2_Missense_Mutation_p.G1070E|IQGAP2_uc003kel.3_Missense_Mutation_p.G1070E	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1574					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGTTCTATGGAAAGTGAAGT	0.313000														21			33		0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48452820	48452820	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:48452820G>T	uc002iqs.2	+	1	333	c.251G>T	c.(250-252)aGc>aTc	p.S84I	MRPL27_uc002iqq.3_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.2_Missense_Mutation_p.S84I	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA.	84					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGTTGCTAAGCAGTGAAAGT	0.468000								Direct reversal of damage;Homologous recombination						6			56		1.03172e-35	1.04641e-35	1	1	0
FSTL4	23105	broad.mit.edu	37	5	132648406	132648406	+	Nonsense_Mutation	SNP	G	A	A	rs148048628		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:132648406G>A	uc003kyn.1	-	5	885	c.667C>T	c.(667-669)Cga>Tga	p.R223*		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	223						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)			TCGTCAAATCGGAGGAGGTCA	0.527000														4			15		0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148699221	148699221	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:148699221C>G	uc003lqh.3	+	12	1687	c.1556C>G	c.(1555-1557)gCg>gGg	p.A519G	AFAP1L1_uc010jgy.3_Missense_Mutation_p.A519G|AFAP1L1_uc003lqi.2_Missense_Mutation_p.A134G	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	519							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCGGAGGCGCTGCACTAT	0.597000														16			89		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873930	36873930	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:36873930C>T	uc003cgj.3	-	20	7260	c.7012G>A	c.(7012-7014)Gga>Aga	p.G2338R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2338					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						CCTTCTATTCCTTTTATCCTG	0.493000														81			19		0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14041539	14041539	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:14041539C>T	uc002dce.2	+	10	2095	c.2086C>T	c.(2086-2088)Cca>Tca	p.P696S	ERCC4_uc010uyz.1_Missense_Mutation_p.P246S	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	696	ERCC4.|Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AAGTGAGCTTCCATCTCTGAT	0.468000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					55			65		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35186362	35186362	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:35186362C>T	uc002yta.1	+	21	2981	c.2713C>T	c.(2713-2715)Cct>Tct	p.P905S	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.P784S|ITSN1_uc002ysy.3_Missense_Mutation_p.P900S|ITSN1_uc002ysx.3_Missense_Mutation_p.P863S|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.P900S|ITSN1_uc010gmg.3_Missense_Mutation_p.P863S|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.P905S|ITSN1_uc010gmi.3_Missense_Mutation_p.P868S|ITSN1_uc002ytb.1_Missense_Mutation_p.P900S|ITSN1_uc002ytc.1_Missense_Mutation_p.P900S|ITSN1_uc010gmk.3_Missense_Mutation_p.P868S|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.P900S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.P839S|ITSN1_uc021wip.1_Missense_Mutation_p.P794S|ITSN1_uc002ytf.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	905					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTCCCCGTCTCCTGTGCTAGG	0.547000														16			12		0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112070435	112070435	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:112070435G>A	uc001pnf.3	+	5	867	c.750G>A	c.(748-750)aaG>aaA	p.K250K	BCO2_uc001pne.1_Silent_p.K77K|BCO2_uc001png.3_Silent_p.K177K|BCO2_uc001pnh.3_Silent_p.K216K|BCO2_uc010rwt.2_Silent_p.K145K|BCO2_uc009yyn.3_Silent_p.K216K|BCO2_uc001pni.3_Silent_p.K216K	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	250					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TCTCCTATAAGGTTATTCGGG	0.408000														49			15		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28857705	28857705	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:28857705G>A	uc003szq.3	+	9	1662	c.1272G>A	c.(1270-1272)ttG>ttA	p.L424L	CREB5_uc003szo.3_Silent_p.L391L|CREB5_uc003szr.3_Silent_p.L417L|CREB5_uc003szs.3_Silent_p.L285L	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	424	Leucine-zipper.				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						TGTCTATGTTGAAAAATGAGG	0.393000														37			39		0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13214578	13214578	+	Missense_Mutation	SNP	T	A	A	rs113723432		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:13214578T>A	uc001rbi.3	+	3	625	c.602T>A	c.(601-603)cTt>cAt	p.L201H	KIAA1467_uc021qvn.1_5'Flank	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	201						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)		TGGTCTAGTCTTCTCCCTGAG	0.488000														9			17		0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70514279	70514279	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:70514279G>T	uc004dzo.3	+	5	1261	c.551G>T	c.(550-552)cGa>cTa	p.R184L	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.R184L|NONO_uc004dzp.3_Missense_Mutation_p.R184L|NONO_uc011mpv.2_Missense_Mutation_p.R95L|NONO_uc004dzq.3_Missense_Mutation_p.R53L	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	184	DBHS.|RRM 2.				DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GTGGATGATCGAGGAAGGCCC	0.517000			T	TFE3	papillary renal cancer									4			26		5.61819e-17	5.65483e-17	1	1	0
BMP5	653	broad.mit.edu	37	6	55623867	55623867	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:55623867C>T	uc003pcq.3	-	5	1863	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	BMP5_uc011dxf.2_Intron	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	384					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGAACATTCTCCATCACAATA	0.363000														62			35		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	236979789	236979789	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:236979789C>T	uc001hyi.4	+	7	1133	c.710C>T	c.(709-711)tCc>tTc	p.S237F	MTR_uc010pxv.1_Non-coding_Transcript|MTR_uc010pxw.2_5'UTR|MTR_uc010pxx.2_Missense_Mutation_p.S237F|MTR_uc010pxy.2_Missense_Mutation_p.S237F|MTR_uc009xgj.1_Missense_Mutation_p.P68S	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	237	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)	CGGACTCTTTCCGGACAGACA	0.408000														4			98		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854861	88854861	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:88854861G>A	uc010kbz.3	-	1	263	c.133C>T	c.(133-135)Cca>Tca	p.P45S	CNR1_uc011dzr.2_Missense_Mutation_p.P45S|CNR1_uc011dzs.2_Missense_Mutation_p.P45S|CNR1_uc003pmq.4_Missense_Mutation_p.P45S|CNR1_uc011dzt.2_Missense_Mutation_p.P45S|CNR1_uc010kca.3_Intron|CNR1_uc021zco.1_Missense_Mutation_p.P45S	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	45					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AATTTCTGTGGGAAGTACCCT	0.502000														20			20		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127415	152127415	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:152127415C>T	uc001ezs.1	-	2	2225	c.2160G>A	c.(2158-2160)gaG>gaA	p.E720E		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	720	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTTCCTGACTCTCATGGCTGT	0.562000														19			297		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167288995	167288995	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:167288995C>T	uc002udu.2	-	14	2555	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	809					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						CTGCTTTTTTCCTTATCTTTG	0.398000														64			57		0	0	1	0	0
IGF2-AS	51214	broad.mit.edu	37	11	2161903	2161903	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:2161903G>A	uc010qxi.2	+	0	146	c.30G>A	c.(28-30)cgG>cgA	p.R10R	IGF2_uc001lvg.3_5'Flank|IGF2_uc009ydf.3_Intron|IGF2_uc021qcb.1_Intron|IGF2_uc001lvh.3_Intron|IGF2_uc001lvi.3_Intron|IGF2-AS_uc001lvk.2_Non-coding_Transcript|IGF2-AS_uc001lvl.2_Non-coding_Transcript					Homo sapiens IGF2 antisense RNA 1 (non-protein coding) (IGF2-AS1), transcript variant 1, non-coding RNA.																		GCGGATTTCGGGGCGCCCAGC	0.711000														3			20		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13162787	13162787	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:13162787C>T	uc003wwm.2	-	4	1783	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	DLC1_uc003wwn.3_Missense_Mutation_p.E447K|DLC1_uc011kxy.2_Missense_Mutation_p.E447K	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	447					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|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						CCAGCCTTTTCCTTCTCTGAA	0.284000														38			21		0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016845	58016845	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:58016845C>T	uc001spe.3	+	6	1289	c.978C>T	c.(976-978)tcC>tcT	p.S326S	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	326						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCATCTCCTCCCTCTTCTCTT	0.537000														171			56		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84666268	84666268	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:84666268C>T	uc003uic.3	-	9	1168	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	SEMA3D_uc010led.3_Silent_p.K376K|SEMA3D_uc003uib.3_Silent_p.K15K	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	376	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGCACTTTCCTTATGAGCAT	0.398000														47			45		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666392	34666392	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:34666392G>A	uc001bxt.3	+	2	1867	c.1029G>A	c.(1027-1029)aaG>aaA	p.K343K	C1orf94_uc001bxs.4_Silent_p.K153K	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	153							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)				CTGGCACCAAGGAGCCAAAAA	0.562000														6			93		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48629399	48629399	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:48629399G>A	uc003ctz.2	-	9	1290	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	430	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGGAGGATGGATGTGGGGCC	0.657000														93			19		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68992730	68992730	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:68992730G>A	uc003xxv.1	+	15	1722	c.1695G>A	c.(1693-1695)tcG>tcA	p.S565S	PREX2_uc003xxu.1_Silent_p.S565S|PREX2_uc011lez.1_Silent_p.S500S	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	565	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.S565fs*3(2)|p.S565L(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTTTTTTCGGATGAGGAAA	0.323000														25			9		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22170655	22170655	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:22170655G>A	uc009vqd.3	-	64	8645	c.8605C>T	c.(8605-8607)Cct>Tct	p.P2869S	HSPG2_uc001bfj.3_Missense_Mutation_p.P2868S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2868	Ig-like C2-type 14.				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)	TGCCGGGCAGGGAGGTTTCCT	0.632000														10			90		0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24441235	24441235	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:24441235G>A	uc002kwa.3	-	2	535	c.472C>T	c.(472-474)Cat>Tat	p.H158Y	AQP4_uc002kvz.3_Missense_Mutation_p.H136Y	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	158					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AGGAGACCATGACCAGCGGTA	0.368000														46			11		0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39917506	39917506	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:39917506C>T	uc003axz.3	+	1	336	c.56C>T	c.(55-57)cCc>cTc	p.P19L	ATF4_uc011aol.1_5'UTR|ATF4_uc003aya.3_Missense_Mutation_p.P19L|ATF4_uc021wpy.1_5'Flank|ATF4_uc021wpz.1_5'Flank	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	19					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					TTGATGTCCCCCTTCGACCAG	0.537000														29			40		0	0	1	0	0
TM4SF1	4071	broad.mit.edu	37	3	149095217	149095217	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:149095217C>T	uc003exb.1	-	0	352	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	TM4SF1_uc003exc.1_5'Flank	NM_014220	NP_055035	P30408	T4S1_HUMAN	Homo sapiens transmembrane 4 L six family member 1 (TM4SF1), mRNA.	40						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGGTGGTTTTCGGAGGCATAC	0.502000														27			10		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999199	92999199	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:92999199C>T	uc022axs.1	-	8	1356	c.1169_splice	c.e8-1	p.G390_splice	RUNX1T1_uc003yfc.2_Splice_Site_p.G304_splice|RUNX1T1_uc010mam.3_Splice_Site_p.G304_splice|RUNX1T1_uc003yfe.2_Splice_Site_p.G294_splice|RUNX1T1_uc003yfd.3_Splice_Site_p.G331_splice|RUNX1T1_uc022axo.1_Splice_Site_p.G331_splice|RUNX1T1_uc010mao.3_Splice_Site_p.G304_splice|RUNX1T1_uc011lgi.2_Splice_Site_p.G342_splice|RUNX1T1_uc022axp.1_Splice_Site_p.G331_splice|RUNX1T1_uc022axq.1_Splice_Site_p.G331_splice|RUNX1T1_uc022axr.1_Splice_Site_p.G331_splice|RUNX1T1_uc022axt.1_Splice_Site_p.G331_splice|RUNX1T1_uc022axu.1_Splice_Site_p.G311_splice|RUNX1T1_uc022axv.1_Splice_Site_p.G331_splice|RUNX1T1_uc010man.2_Splice_Site|RUNX1T1_uc003yfb.2_Splice_Site_p.G294_splice	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	331					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			TGCCATGCAACCCTACAAAAA	0.413000														133			48		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49666088	49666088	+	Missense_Mutation	SNP	C	T	T	rs141421430		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:49666088C>T	uc003ozn.2	-	6	640	c.404G>A	c.(403-405)gGa>gAa	p.G135E	CRISP2_uc003ozr.2_Missense_Mutation_p.G135E|CRISP2_uc003ozo.2_Missense_Mutation_p.G135E|CRISP2_uc003ozm.2_Missense_Mutation_p.G135E|CRISP2_uc003ozp.2_Missense_Mutation_p.G135E|CRISP2_uc003ozq.2_Missense_Mutation_p.G135E|CRISP2_uc003ozl.2_Missense_Mutation_p.G135E	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	135						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGTATAATGTCCAACAACTGC	0.398000														25			18		0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1936816	1936816	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:1936816C>T	uc010vqs.2	+	0	130	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	DPH1_uc002fts.3_Missense_Mutation_p.R32C|DPH1_uc002ftt.3_Missense_Mutation_p.R27C|DPH1_uc010cjx.3_5'UTR	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	32					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCTCGGGGCCGCGTGGCCAA	0.562000														11			59		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773434	141773434	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:141773434C>T	uc002tvj.1	-	12	2993	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	674					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V673L(1)		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)		CTCAATCCTTCCCACGCTGTC	0.413000										TSP Lung(27;0.18)				25			37		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29551258	29551258	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:29551258G>A	uc002rmy.3	-	5	2324	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	458	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.H458Q(1)	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)	CAGTCCTGGTGGAAGTCACAG	0.607000			"""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					49			31		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34490046	34490046	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:34490046G>A	uc003zum.3	+	5	618	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	142					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCAGAAACAGGAAACCTCGAA	0.493000									Kartagener syndrome					0			25		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004259	75004259	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:75004259C>A	uc004ecj.2	-	0	821	c.628G>T	c.(628-630)Gat>Tat	p.D210Y		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	210	MAGE 1.									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						TGAGGCTTATCCCACATATCA	0.507000														6			28		3.69857e-22	3.73487e-22	1	1	0
MYH6	4624	broad.mit.edu	37	14	23874314	23874314	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:23874314G>A	uc001wjv.3	-	5	596	c.525C>T	c.(523-525)ctC>ctT	p.L175L	MYH6_uc010akp.2_Silent_p.L175L	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	175	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	ATP binding|actin binding|actin-dependent ATPase activity|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)		CTCACGTGATGAGGATGGACT	0.577000														21			6		0	0	1	0	0
TMEM68	137695	broad.mit.edu	37	8	56668963	56668963	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:56668963T>A	uc003xsg.1	-	1	402	c.333A>T	c.(331-333)gaA>gaT	p.E111D	TMEM68_uc003xsh.1_Missense_Mutation_p.E111D	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	Homo sapiens transmembrane protein 68 (TMEM68), mRNA.	111						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TTCCATGAACTTCATAACCTG	0.299000														30			14		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168151452	168151452	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:168151452C>T	uc010jjg.3	-	20	2728	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	SLIT3_uc003mab.3_Missense_Mutation_p.E770K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	770					Roundabout signaling pathway|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	extracellular space|mitochondrion	Roundabout binding|calcium ion 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)			GCGGACAGCTCTCTGGGCACG	0.512000														64			7		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024143	76024143	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:76024143C>T	uc010kbe.3	-	5	1944	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	FILIP1_uc003phy.1_Missense_Mutation_p.E469K|FILIP1_uc003phz.3_Missense_Mutation_p.E370K|FILIP1_uc003pia.3_Missense_Mutation_p.E469K|FILIP1_uc003pib.1_Missense_Mutation_p.E221K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	469										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACCTCCAATTCATTTAGCAGG	0.363000														21			31		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150555993	150555993	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:150555993G>A	uc003why.1	+	3	5931	c.1713G>A	c.(1711-1713)agG>agA	p.R571R	ABP1_uc003whz.1_Silent_p.R571R|ABP1_uc003wia.1_Silent_p.R571R	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	571	Heparin-binding (By similarity).				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GCTTCAAAAGGAAGCTGCCTA	0.632000														11			11		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700673	136700673	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:136700673G>A	uc003vtf.1	+	3	1684	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	CHRM2_uc003vtg.1_Missense_Mutation_p.G354E|CHRM2_uc003vti.1_Missense_Mutation_p.G354E|CHRM2_uc003vtm.1_Missense_Mutation_p.G354E|CHRM2_uc003vtj.1_Missense_Mutation_p.G354E|CHRM2_uc003vtk.1_Missense_Mutation_p.G354E|CHRM2_uc003vtl.1_Missense_Mutation_p.G354E|CHRM2_uc003vtn.1_Missense_Mutation_p.G354E|CHRM2_uc003vto.1_Missense_Mutation_p.G354E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.G354E	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	354					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|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)	GGTCAGAATGGAGATGAAAAG	0.473000														60			25		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61944505	61944506	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:61944505_61944506CC>TT	uc011aau.2	+	16	2213_2214	c.2113_2114CC>TT	c.(2113-2115)cct>TTt	p.P705F	COL20A1_uc011aav.2_Missense_Mutation_p.P526F	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	705	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGCCGTCCTGCCTGGCCTAGGG	0.673000														16			18		0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146067840	146067840	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:146067840T>A	uc010mge.3	+	4	1518	c.1381T>A	c.(1381-1383)Ttt>Att	p.F461I	ZNF7_uc003zeg.4_Missense_Mutation_p.F450I|ZNF7_uc011lln.2_Missense_Mutation_p.F354I|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Missense_Mutation_p.F354I|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	450					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TACAAAAGCCTTTGGTTGTAG	0.448000														131			26		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1649497	1649497	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:1649497C>T	uc003wpl.3	+	11	2950	c.2853C>T	c.(2851-2853)tcC>tcT	p.S951S	DLGAP2_uc003wpm.3_Silent_p.S937S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	1030					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)		GAGCGGCGTCCTTCCGGCAGA	0.667000														2			3		0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66603284	66603284	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:66603284C>T	uc001sth.3	+	2	467	c.365C>T	c.(364-366)cCa>cTa	p.P122L	IRAK3_uc010ssy.2_Missense_Mutation_p.P61L	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	122					MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GGTGGATTTCCAAATATATTA	0.353000														18			19		0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473139	105473141	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:105473139_105473141AC>TT	uc010ywg.2	+	0	1171_1173	c.1171_1173AC>TT	c.(1171-1173)acc>TT	p.T391del		NM_006236	NP_006227	P20264	PO3F3_HUMAN	Homo sapiens POU class 3 homeobox 3 (POU3F3), mRNA.	391					metanephric DCT cell differentiation|metanephric ascending thin limb development|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGACTCAAGCACCGGCAGCCCCA	0.631000														17			11		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656627	12656627	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:12656627C>T	uc002gno.2	+	9	2321	c.2022C>T	c.(2020-2022)gtC>gtT	p.V674V	MYOCD_uc002gnn.2_Silent_p.V674V|MYOCD_uc002gnp.1_Silent_p.V578V|MYOCD_uc002gnq.2_Silent_p.V393V	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	647					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	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|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)		GGCACAGGGTCTCCTCGCCCA	0.572000														6			31		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88912642	88912642	+	Silent	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:88912642T>C	uc001tav.3	-	3	390	c.195A>G	c.(193-195)ccA>ccG	p.P65P	KITLG_uc009zsn.3_5'UTR|KITLG_uc001taw.3_Silent_p.P65P|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	65					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						AACAATGACTTGGCTGCAAGA	0.348000									Testicular Cancer, Familial Clustering of					20			8		0	0	1	0	0
C5orf44	80006	broad.mit.edu	37	5	64954239	64954239	+	Silent	SNP	C	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:64954239C>G	uc003jua.4	+	8	939	c.609C>G	c.(607-609)acC>acG	p.T203T	C5orf44_uc003jtz.4_Silent_p.T203T|C5orf44_uc010iwv.3_Silent_p.T197T|C5orf44_uc003juc.4_Silent_p.T197T	NM_001093755	NP_001087224	A5PLN9	CE044_HUMAN	Homo sapiens chromosome 5 open reading frame 44 (C5orf44), transcript variant 1, mRNA.	203										kidney(4)|large_intestine(2)|lung(1)|ovary(1)	8						ATATGACAACCTCACCTATGT	0.353000														22			7		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479734	4479734	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:4479734G>A	uc001qmq.1	-	2	677	c.531C>T	c.(529-531)caC>caT	p.H177H		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	177					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	p.R176Q(1)|p.R176R(1)		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)			CGCTCCGGGTGTGCCGCCGTG	0.677000														19			24		0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	36950061	36950061	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:36950061C>T	uc001zje.4	+	4	551	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	C15orf41_uc010bbb.1_Missense_Mutation_p.R3W|C15orf41_uc001zjf.3_Missense_Mutation_p.R3W|C15orf41_uc010uci.2_Missense_Mutation_p.R3W	NM_001130010	NP_115888	Q9Y2V0	CO041_HUMAN	Homo sapiens chromosome 15 open reading frame 41 (C15orf41), transcript variant 1, mRNA.	101							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		ATTAATGGCTCGGCTTATACT	0.403000														12			13		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136212	74136212	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:74136212C>T	uc002jqx.3	-	1	620	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	89					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGGGCTTGCCCGGCGTGTGT	0.766000														1			13		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757009	56757009	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:56757009G>A	uc010rjp.2	+	0	621	c.621G>A	c.(619-621)ttG>ttA	p.L207L		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	207					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						GATCTAACTTGATATTCACTG	0.403000														90			26		0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119674001	119674001	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:119674001G>A	uc003ici.4	-	11	1736	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Silent_p.I489I|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	488					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum 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						TGTTATATGTGATAAAACCCA	0.378000														20			20		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15607794	15607794	+	Missense_Mutation	SNP	A	T	T	rs143212851		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:15607794A>T	uc002rcc.1	-	17	2038	c.2012T>A	c.(2011-2013)tTt>tAt	p.F671Y	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	671										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTACTTGGAAAAGTTCACTAA	0.323000														13			7		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115580985	115580985	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:115580985C>T	uc003vhj.2	-	8	917	c.664_splice	c.e8-1	p.E222_splice	TFEC_uc003vhm.2_Splice_Site_p.E155_splice|TFEC_uc003vhk.2_Splice_Site_p.E193_splice|TFEC_uc003vhl.4_3'UTR|TFEC_uc011kmw.2_3'UTR	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	222						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.E222K(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ATTTCTAGTTCCTGTAATTTC	0.378000														54			17		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339381	19339381	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:19339381G>A	uc002nlz.3	+	7	3051	c.2952G>A	c.(2950-2952)tgG>tgA	p.W984*	NCAN_uc010ecc.1_Nonsense_Mutation_p.W548*	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	984					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAGCTTCTGGGAGGAGGTGG	0.642000														71			43		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149255	73149255	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:73149255G>A	uc003hgk.2	-	21	3253	c.3216C>T	c.(3214-3216)gtC>gtT	p.V1072V		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	1072					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTTAGAGATGACATCATCAT	0.458000														75			37		0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52561857	52561857	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:52561857G>A	uc003den.3	-	7	963	c.923C>T	c.(922-924)cCt>cTt	p.P308L	NT5DC2_uc003dem.3_Missense_Mutation_p.P141L|NT5DC2_uc010hmi.3_Missense_Mutation_p.P283L|NT5DC2_uc010hmj.3_Missense_Mutation_p.P87L|NT5DC2_uc003deo.3_Missense_Mutation_p.P271L	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	271							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGCTGAAAGGACTGTTGGT	0.612000														46			6		0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150322712	150322712	+	RNA	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:150322712G>A	uc003qnq.3	-	1		c.165C>T								Homo sapiens retinoic acid early transcript 1K pseudogene (RAET1K), non-coding RNA.																		TGAAGAAAAGGCCTTTCATCC	0.443000														49			22		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95552643	95552643	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:95552643C>T	uc001kjc.4	+	5	983	c.647C>T	c.(646-648)tCg>tTg	p.S216L	LGI1_uc021pwk.1_Missense_Mutation_p.S216L|LGI1_uc010qnv.2_Missense_Mutation_p.S168L|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	216	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGTCTCTCCTCGAAGGATTTT	0.418000														11			48		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55446002	55446002	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:55446002C>T	uc002qih.4	-	6	2402	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K	NLRP7_uc010esk.3_Missense_Mutation_p.E776K|NLRP7_uc002qig.4_Missense_Mutation_p.E748K|NLRP7_uc002qii.4_Missense_Mutation_p.E776K|NLRP7_uc010esl.3_Missense_Mutation_p.E804K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	776							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)		GCCCACTGCTCCGGGGTGGCA	0.507000														16			16		0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124228357	124228357	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:124228357C>T	uc001ufr.3	+	9	1312	c.1064C>T	c.(1063-1065)tCa>tTa	p.S355L		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	355					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ACAATCCCCTCATTCATGAAT	0.413000														37			48		0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111229570	111229570	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:111229570T>A	uc001plg.4	-	1	345	c.90A>T	c.(88-90)gaA>gaT	p.E30D		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	30					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TCCTCAGCAGTTCCTTCACTG	0.627000			T	BCL6	NHL									10			15		0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729656	62729656	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:62729656C>T	uc002yic.3	+	4	1036	c.617C>T	c.(616-618)aCc>aTc	p.T206I	OPRL1_uc002yid.3_Missense_Mutation_p.T206I|OPRL1_uc021wgs.1_Missense_Mutation_p.T206I|OPRL1_uc002yif.4_Missense_Mutation_p.T201I	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	206					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding	p.P205L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GAGATCCCTACCCCTCAGGAT	0.612000														50			35		0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14273446	14273446	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:14273446C>T	uc010xnn.2	-	5	1478	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	LPHN1_uc010xno.2_Silent_p.L389L|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	394	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCCGAACTCCAGGCTGTAGC	0.617000														54			45		0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143344	61143344	+	RNA	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:61143344C>T	uc002ycy.3	-	4		c.1337G>A			C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens C20orf166 antisense RNA 1 (non-protein coding) (C20orf166-AS1), non-coding RNA.																		TGGCAGGGCCCTCCCCTGGAC	0.687000														29			21		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717576	13717576	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:13717576G>A	uc003jfd.2	-	72	12595	c.12553C>T	c.(12553-12555)Ctg>Ttg	p.L4185L	DNAH5_uc003jfc.2_Silent_p.L353L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4185	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)					ACTGCGTACAGCATGGGCTTC	0.527000									Kartagener syndrome					11			24		0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133372319	133372319	+	Silent	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:133372319T>A	uc003eps.3	-	6	924	c.792A>T	c.(790-792)acA>acT	p.T264T		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	264	BRCT 2.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAAACCACTGTGTGGTCACAC	0.388000								Other conserved DNA damage response genes						15			25		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17919150	17919150	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:17919150C>T	uc002nhl.1	+	1	681	c.534C>T	c.(532-534)ttC>ttT	p.F178F	B3GNT3_uc010ebd.1_Silent_p.F178F|B3GNT3_uc010ebe.1_Silent_p.F178F	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	178					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						AGTGGGACTTCCACGACTCCT	0.617000														27			18		0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109309808	109309808	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:109309808G>A	uc003psu.3	-	8	1939	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	SESN1_uc021zdp.1_Missense_Mutation_p.P378S|SESN1_uc003pst.4_Missense_Mutation_p.P444S	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	444					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ACCTTTTCAGGAGTGCAAACA	0.353000														15			10		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	G	G	rs143004725	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:12885059C>G	uc001auk.2	-	3	1248	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	351								p.C351S(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532000														241			4		0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554838	40554838	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:40554838G>A	uc003xnr.3	-	3	421	c.275C>T	c.(274-276)tCc>tTc	p.S92F	ZMAT4_uc003xns.3_Missense_Mutation_p.S92F	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	92						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TTGATAATGGGAATCGGCCAC	0.502000														9			49		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7439335	7439335	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:7439335C>T	uc001mfe.3	+	4	1550	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	438	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATCCACTTGTCCATAGCAGTC	0.502000														58			20		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8230222	8230222	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:8230222C>T	uc003gkv.4	+	11	2902	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L	SH3TC1_uc003gkw.4_Missense_Mutation_p.S858L|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	934							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						CGGCTGTTCTCGAGGCTGCCC	0.711000														35			25		0	0	1	0	0
ZFP106	64397	broad.mit.edu	37	15	42742291	42742291	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:42742291G>A	uc001zpw.3	-	1	2437	c.2110C>T	c.(2110-2112)Caa>Taa	p.Q704*	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Nonsense_Mutation_p.Q487*|ZFP106_uc001zpy.1_Nonsense_Mutation_p.Q727*	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	704						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TCACTTTTTTGAAGCTCTGCA	0.463000														77			49		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41065497	41065497	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:41065497G>A	uc003jmj.4	-	3	787	c.297C>T	c.(295-297)ttC>ttT	p.F99F	HEATR7B2_uc021xxt.1_Silent_p.F99F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	99							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTAAGATCCTGAAGTTACTTT	0.438000														46			25		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	30993500	30993500	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:30993500C>T	uc010qdx.1	+	6	1196	c.654C>T	c.(652-654)tcC>tcT	p.S218S						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		CCAGTGTCTCCGTGGATGTCT	0.552000														20			11		0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7160794	7160794	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:7160794C>T	uc002qys.3	+	5	934	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	164						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	p.F164F(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CGATCACCTTCCTCCCCGGGG	0.592000														68			48		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51510800	51510800	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:51510800G>A	uc001zyz.4	-	6	932	c.681C>T	c.(679-681)ctC>ctT	p.L227L	CYP19A1_uc001zza.4_Silent_p.L227L|CYP19A1_uc001zzb.2_Silent_p.L227L|CYP19A1_uc001zzc.1_5'Flank	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	227					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTTTGATGAGGAGAGCTTGCC	0.343000														17			14		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33532873	33532873	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:33532873C>T	uc001rll.1	-	5	1691	c.1394G>A	c.(1393-1395)gGa>gAa	p.G465E	SYT10_uc009zju.1_Missense_Mutation_p.G275E	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	465	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTGCACACTCCTATGACCTC	0.433000														48			18		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33592331	33592331	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:33592331C>T	uc001rll.1	-	0	424	c.127G>A	c.(127-129)Ggc>Agc	p.G43S	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	43						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCCTGGCTGCCCCTGTCCCGA	0.682000														38			38		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38412643	38412643	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:38412643G>A	uc003jlc.2	+	10	1733	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	EGFLAM_uc003jlb.2_Missense_Mutation_p.E463K|EGFLAM_uc003jle.2_Missense_Mutation_p.E229K|EGFLAM_uc003jlf.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	463	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATCGTAAGTGAGACCAAAAT	0.488000														53			62		0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642549	129642549	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:129642549C>T	uc022bnn.1	+	0	859	c.859C>T	c.(859-861)Caa>Taa	p.Q287*	ZBTB34_uc004bqm.4_Nonsense_Mutation_p.Q287*	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CTCCTATTCCCAAGCAGCCTC	0.527000														1			29		0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45877282	45877282	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:45877282C>T	uc021wjs.1	+	0	755	c.755C>T	c.(754-756)cCc>cTc	p.P252L	LRRC3_uc002zfa.3_Missense_Mutation_p.P252L	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	252						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCCAAGGACCCCATCGGCCCG	0.637000														39			26		0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101315335	101315335	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:101315335G>A	uc001vot.3	-	4	748	c.435C>T	c.(433-435)ttC>ttT	p.F145F	TMTC4_uc001vou.3_Silent_p.F126F|TMTC4_uc010tja.2_Intron	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	126						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACAGAACCGAGAAGACGTCCA	0.612000														195			49		0	0	1	0	0
WBP1L	54838	broad.mit.edu	37	10	104572878	104572878	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:104572878C>T	uc001kwf.4	+	3	966	c.882C>T	c.(880-882)atC>atT	p.I294I	WBP1L_uc009xxg.1_Intron|WBP1L_uc001kwe.4_Silent_p.I273I	NM_001083913	NP_001077382	Q9NX94	OPA1L_HUMAN	Homo sapiens chromosome 10 open reading frame 26 (C10orf26), transcript variant 1, mRNA.	273						integral to membrane											ACACACTCATCGATGATGCTC	0.592000														11			45		0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124632017	124632017	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:124632017C>T	uc003ehq.2	-	7	1191	c.1152G>A	c.(1150-1152)ggG>ggA	p.G384G		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	384	EGF-like 3.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						ACTCAGGGGCCCCACCACTCT	0.468000														24			39		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141283880	141283880	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:141283880C>T	uc002tvj.1	-	47	8774	c.7802G>A	c.(7801-7803)gGg>gAg	p.G2601E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2601	LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2600Y(1)		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)		AATACAAGTCCCATCTGCACA	0.418000										TSP Lung(27;0.18)				16			12		0	0	1	0	0
PRSS33	260429	broad.mit.edu	37	16	2836100	2836100	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:2836100C>T	uc002cro.1	-	1	229	c.69G>A	c.(67-69)agG>agA	p.R23R	PRSS33_uc002crp.1_Silent_p.R23R	NM_152891	NP_690851	Q8NF86	PRS33_HUMAN	Homo sapiens protease, serine, 33 (PRSS33), mRNA.	23					proteolysis		serine-type endopeptidase activity			prostate(1)	1						CTGCAGACTTCCTTCCCTGAG	0.612000														29			22		0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120774830	120774830	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:120774830G>A	uc003you.3	-	18	2653	c.2383C>T	c.(2383-2385)Cgt>Tgt	p.R795C		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	795					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTCTGCACGATAATAGTTA	0.318000														56			24		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428585	10428585	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:10428585C>T	uc010coi.3	-	32	4746	c.4618G>A	c.(4618-4620)Gaa>Aaa	p.E1540K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1540K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1540					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						TTTTCTTGTTCCACTTGTTTC	0.373000														7			26		0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26628171	26628171	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:26628171G>A	uc003xfc.1	-	1	1332	c.896C>T	c.(895-897)cCt>cTt	p.P299L	ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.P299L|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.P299L|ADRA1A_uc003xfh.1_Missense_Mutation_p.P299L	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	299					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGAAATCAGGGAAGAAAGA	0.393000														51			28		0	0	1	0	0
LOC100131347	100131347	broad.mit.edu	37	17	37263806	37263806	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:37263806G>A	uc002hrf.1	+	2	361	c.330G>A	c.(328-330)tgG>tgA	p.W110*	PLXDC1_uc002hrg.2_Intron|PLXDC1_uc002hrh.2_Intron|PLXDC1_uc002hri.2_Intron|PLXDC1_uc002hrj.1_Intron|PLXDC1_uc002hrk.1_Intron					Homo sapiens RAD52 motif 1 pseudogene (LOC100131347), non-coding RNA.																		GACCCGGCTGGACGGGAGATC	0.577000														4			20		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148068950	148068950	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:148068950G>A	uc004fcp.3	+	19	4156	c.3677G>A	c.(3676-3678)gGg>gAg	p.G1226E	AFF2_uc004fcq.3_Missense_Mutation_p.G1216E|AFF2_uc004fcr.3_Missense_Mutation_p.G1187E|AFF2_uc011mxb.2_Missense_Mutation_p.G1191E|AFF2_uc004fcs.3_Missense_Mutation_p.G1191E|AFF2_uc011mxc.2_Missense_Mutation_p.G867E	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1226					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACGCAATGGGGAACTGTAAC	0.522000														1			48		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162459388	162459388	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:162459388G>A	uc003iqh.3	-	9	1678	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	FSTL5_uc003iqi.3_Silent_p.I413I|FSTL5_uc010iqv.3_Silent_p.I413I	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	414	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CATTCTTTGCGATACAAGTGT	0.423000														54			70		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398252	89398253	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:89398252_89398253CC>TT	uc010upo.1	+	11	2810_2811	c.2436_2437CC>TT	c.(2434-2439)ttcccc>ttTTcc	p.P813S	ACAN_uc010upp.1_Missense_Mutation_p.P813S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	813					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAGGCCATTCCCCTCAGTGGA	0.604000														12			4		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156047	155156047	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:155156047C>T	uc003inw.2	-	24	8392	c.8392G>A	c.(8392-8394)Gat>Aat	p.D2798N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2798					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)		TTTGCAATATCATTAAATACT	0.393000														66			67		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170042066	170042066	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:170042066G>A	uc002ues.3	-	49	10005	c.9792C>T	c.(9790-9792)atC>atT	p.I3264I		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3264					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			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)	TGTGGTTTATGATTGTCTCCT	0.358000														20			30		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417353	70417353	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:70417353G>A	uc002lkw.3	-	8	1769	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	NETO1_uc002lky.2_Silent_p.I495I	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	495					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.I495I(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCACCTCTTCGATTTCATCTA	0.468000														7			34		0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61914862	61914862	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:61914862G>A	uc010deb.1	-	1	657	c.340C>T	c.(340-342)Cca>Tca	p.P114S	SMARCD2_uc010wpt.1_Missense_Mutation_p.P66S|SMARCD2_uc010dea.1_Missense_Mutation_p.P39S	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	114	Pro-rich.				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						TTTCGGAATGGATCCATCATG	0.642000														12			56		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080990	54080990	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:54080990C>T	uc002qbx.1	+	6	2610	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	ZNF331_uc002qby.1_Silent_p.F392F|ZNF331_uc002qbz.1_Silent_p.F392F|ZNF331_uc010eqr.1_Silent_p.F392F|ZNF331_uc002qca.1_Silent_p.F392F|ZNF331_uc021uzg.1_Silent_p.F392F|ZNF331_uc021uzh.1_Silent_p.F392F|ZNF331_uc002qcb.1_Silent_p.F392F|ZNF331_uc002qcc.1_Silent_p.F392F|ZNF331_uc002qcd.1_Silent_p.F392F	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GGAAGGCTTTCATTTATGGAT	0.488000			T	?	follicular thyroid adenoma									21			14		0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798180	38798180	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:38798180C>T	uc003gtl.3	-	3	2547	c.2273G>A	c.(2272-2274)tGg>tAg	p.W758*	TLR1_uc021xnn.1_Nonsense_Mutation_p.W758*	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	758	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTCCTTGGGCCATTCCAAATA	0.433000														37			30		0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103663574	103663574	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:103663574G>A	uc011lhk.1	-	2	1140	c.986C>T	c.(985-987)tCa>tTa	p.S329L	KLF10_uc011lhj.1_Missense_Mutation_p.S318L	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	329					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CGGAGGCTTTGAACTCTGCAC	0.577000														111			79		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308409	140308409	+	Silent	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140308409A>G	uc003lih.2	+	0	2108	c.1932A>G	c.(1930-1932)ccA>ccG	p.P644P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.P644P	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	668	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGAGACCCACCACTTTCCT	0.522000														37			139		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58563962	58563962	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:58563962G>A	uc002qrc.1	+	4	817	c.570G>A	c.(568-570)gcG>gcA	p.A190A		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	190					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A190V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACACCAGGGCGGAGGCCGAAG	0.612000														24			33		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78320598	78320598	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:78320598C>T	uc002jyh.2	+	29	8753	c.8610C>T	c.(8608-8610)acC>acT	p.T2870T	RNF213_uc021uen.1_Silent_p.T2821T	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	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)			TCATCAGCACCTTCCGGCAGT	0.622000														7			23		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817110	69817110	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:69817110C>T	uc003hef.2	-	0	400	c.369G>A	c.(367-369)atG>atA	p.M123I	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	123						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCACACATCATTTTTAAAG	0.373000														43			22		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985487	140985487	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:140985487C>T	uc011mwp.2	+	7	1801	c.1801C>T	c.(1801-1803)Cca>Tca	p.P601S	MAGEC3_uc004fbs.3_3'UTR|MAGEC3_uc010nsj.3_3'UTR	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	601	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTGCCTTTCCATCCTGGTA	0.478000														9			50		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730496	141730496	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:141730496G>A	uc003vwy.3	+	11	1463	c.1409G>A	c.(1408-1410)aGg>aAg	p.R470K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	470	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)	CCATATGACAGGGGTTCAGAT	0.468000														43			59		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839838	62839838	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:62839838A>G	uc002yii.3	+	6	1653	c.1289A>G	c.(1288-1290)aAa>aGa	p.K430R	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_Missense_Mutation_p.K62R	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	430					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TACTACAGTAAAGGTAGGGCT	0.652000														27			12		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75843694	75843694	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:75843694C>T	uc021zbv.1	-	31	5579	c.5544G>A	c.(5542-5544)agG>agA	p.R1848R	COL12A1_uc021zbw.1_Silent_p.R684R|COL12A1_uc003phs.3_Silent_p.R1848R|COL12A1_uc003pht.3_Silent_p.R684R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1848	Fibronectin type-III 14.				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						CTCTCAGGTTCCTTACAGTGT	0.458000														11			3		0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73044523	73044523	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:73044523G>A	uc001jro.3	+	2	802	c.351G>A	c.(349-351)gtG>gtA	p.V117V	UNC5B_uc001jrp.3_Silent_p.V117V	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	117	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGCAGCAGGTGGAGGAGCTCT	0.662000														10			34		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25924106	25924106	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:25924106C>T	uc011dkb.2	-	1	140	c.57G>A	c.(55-57)ggG>ggA	p.G19G	SLC17A2_uc011dkc.2_Silent_p.G19G|SLC17A2_uc003nfl.3_Silent_p.G19G			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	19					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						TAAGAGCCAGCCCATAGCGTA	0.473000														26			8		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256409	63256409	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:63256409G>A	uc011cqt.2	-	0	1138	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	380					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)	GCGCCCAACAGGGTGGGCATG	0.527000														74			170		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789239	111789239	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:111789239G>A	uc010yxk.1	+	14	1541	c.1317G>A	c.(1315-1317)tgG>tgA	p.W439*	ACOXL_uc021vmm.1_Nonsense_Mutation_p.W292*|ACOXL_uc021vmn.1_Nonsense_Mutation_p.W262*	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	469					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TCCATGCCTGGAACTCGTGTC	0.458000														34			29		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130380672	130380672	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:130380672G>A	uc010htl.3	+	33	6053	c.6022G>A	c.(6022-6024)Gac>Aac	p.D2008N	COL6A6_uc003eni.4_Missense_Mutation_p.D107N	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	2008	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTCACTGGAGACCGGGTGGC	0.493000														9			23		0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144800414	144800414	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:144800414C>T	uc003yzj.3	+	3	269	c.228C>T	c.(226-228)ctC>ctT	p.L76L		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	76	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			TCATCAGCCTCCTTGACGTGA	0.622000														83			52		0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25364203	25364203	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:25364203C>T	uc003xep.1	+	14	2498	c.2021C>T	c.(2020-2022)tCt>tTt	p.S674F	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.S659F|CDCA2_uc003xer.1_Missense_Mutation_p.S337F	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	674					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AATGCTACTTCTGATGAAGAT	0.313000														32			38		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55145132	55145132	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:55145132C>T	uc002qgj.3	+	8	1645	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	LILRB1_uc010erp.1_Silent_p.S50S|LILRB1_uc002qgl.3_Silent_p.S435S|LILRB1_uc002qgk.3_Silent_p.S435S|LILRB1_uc002qgm.3_Silent_p.S435S|LILRB1_uc010erq.3_Intron|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	435					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)		GCCCCACCTCCACATCTGGTG	0.622000										HNSCC(37;0.09)				15			10		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148601541	148601541	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:148601541C>T	uc003ewm.3	+	8	972	c.920C>T	c.(919-921)tCc>tTc	p.S307F		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	307					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)			CATTCCTACTCCCAGATGCTA	0.428000														63			12		0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65298833	65298833	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:65298833C>T	uc002sdl.4	+	2	817	c.603C>T	c.(601-603)tcC>tcT	p.S201S	CEP68_uc002sdj.2_Silent_p.S201S|CEP68_uc010yqb.1_Silent_p.S201S|CEP68_uc002sdk.4_Silent_p.S201S|CEP68_uc010yqc.2_Silent_p.S201S|CEP68_uc010yqd.1_Silent_p.S201S	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	201					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCTCTGCTTCCTCCACAGGCA	0.642000														36			27		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086562	39086562	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:39086562C>T	uc011aej.1	-	2	951	c.898G>A	c.(898-900)Gag>Aag	p.E300K	KCNJ6_uc002ywo.2_Missense_Mutation_p.E300K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	300					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCCAGTTCCTCTTTGGGCAGC	0.483000														56			43		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126142424	126142424	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:126142424G>A	uc010hsg.1	+	11	1285	c.1226G>A	c.(1225-1227)aGc>aAc	p.S409N	CCDC37_uc003eiu.1_Missense_Mutation_p.S408N	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	408										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ATCCAGAACAGCCAGGAGACG	0.612000														52			11		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026779	61026779	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:61026779G>A	uc001nra.3	-	19	2515	c.2236C>T	c.(2236-2238)Ctg>Ttg	p.L746L	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	746						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGAGGAGACAGGGAATCTAGA	0.562000														42			9		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69040489	69040489	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:69040489C>T	uc010fdg.3	+	5	1164	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	ARHGAP25_uc010yqk.2_Missense_Mutation_p.P223S|ARHGAP25_uc010yql.2_Missense_Mutation_p.P209S|ARHGAP25_uc002sev.3_Missense_Mutation_p.P242S|ARHGAP25_uc002sew.3_Missense_Mutation_p.P241S|ARHGAP25_uc002sex.3_Missense_Mutation_p.P242S|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	248	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCCCGTGGTTCCCTGGAGCCA	0.517000														46			29		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52899811	52899811	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:52899811C>T	uc002lga.3	-	17	1944	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	TCF4_uc021ukg.1_Silent_p.T366T|TCF4_uc021ukh.1_Silent_p.T366T|TCF4_uc002lfw.4_Silent_p.T366T|TCF4_uc010xdu.1_Silent_p.T396T|TCF4_uc010xdv.1_Silent_p.T396T|TCF4_uc021uki.1_Silent_p.T455T|TCF4_uc002lfx.2_Silent_p.T455T|TCF4_uc010xdw.1_Silent_p.T396T|TCF4_uc002lfy.2_Silent_p.T484T|TCF4_uc010xdx.1_Silent_p.T502T|TCF4_uc021ukj.1_Silent_p.T466T|TCF4_uc021ukk.1_Silent_p.T466T|TCF4_uc021ukl.1_Silent_p.T523T|TCF4_uc002lfz.2_Silent_p.T526T|TCF4_uc010dph.1_Silent_p.T526T|TCF4_uc010dpi.3_Silent_p.T532T|TCF4_uc010xdy.1_Silent_p.T502T	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	526	Class A specific domain.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCGAAGATTTCGTGTCTTGCA	0.453000														46			4		0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138178089	138178089	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:138178089G>A	uc003esk.3	+	4	868	c.642G>A	c.(640-642)ggG>ggA	p.G214G	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	214						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGTGAACGGGATCCAGGTGG	0.622000														28			72		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606504	21606504	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:21606504C>T	uc002npw.3	+	3	1162	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	ZNF493_uc002npx.3_Missense_Mutation_p.S220F|ZNF493_uc002npy.3_Missense_Mutation_p.S220F|ZNF493_uc021urq.1_Missense_Mutation_p.S220F	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAAGAGAAATCCCACAGATGT	0.353000														29			18		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168586	50168586	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:50168586G>A	uc001zxu.3	-	24	3058	c.2916C>T	c.(2914-2916)atC>atT	p.I972I	ATP8B4_uc010ber.3_Silent_p.I845I|ATP8B4_uc010ufd.2_Silent_p.I782I|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_5'UTR	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	972					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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCCCATAGGGGATGAAGAAAA	0.443000														38			37		0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959685	45959685	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:45959685C>T	uc002zfh.1	-	0	394	c.349G>A	c.(349-351)Gat>Aat	p.D117N	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	117	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GAAGAGGAATCCTTAGAgcag	0.627000														61			47		0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100169470	100169471	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:100169470_100169471GG>AA	uc004egn.2	-	2	1811_1812	c.1206_1207CC>TT	c.(1204-1209)ttccag>ttTTag	p.Q403*	XKRX_uc011mre.1_Nonsense_Mutation_p.Q199*	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	403						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TGCAAGTACTGGAAGAAAAGGA	0.450000														4			50		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103179671	103179671	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:103179671G>A	uc022ajr.1	-	44	7194	c.7034C>T	c.(7033-7035)cCc>cTc	p.P2345L	RELN_uc022ajq.1_Missense_Mutation_p.P2345L|RELN_uc010liz.3_Missense_Mutation_p.P2345L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2345					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCACACACGGGCATCTTGGT	0.493000														29			28		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890774	22890774	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:22890774C>T	uc002zwf.3	-	4	1401	c.1245G>A	c.(1243-1245)ggG>ggA	p.G415G	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.G399G|PRAME_uc010gtr.3_Silent_p.G415G|PRAME_uc002zwg.3_Silent_p.G415G|PRAME_uc002zwh.3_Silent_p.G415G|PRAME_uc002zwi.3_Silent_p.G415G|PRAME_uc002zwj.3_Silent_p.G415G|PRAME_uc002zwk.3_Silent_p.G415G	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	415					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGATGGAATTCCCGTAGAAGC	0.547000														43			15		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535244	169535244	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:169535244T>A	uc003mai.4	+	1	811	c.766T>A	c.(766-768)Tca>Aca	p.S256T	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	256					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)			GGATGGAGCCTCACCAGGGGG	0.607000									Pendred syndrome					71			52		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170596	53170596	+	Silent	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:53170596T>C	uc001sax.3	-	0	534	c.480A>G	c.(478-480)gtA>gtG	p.V160V		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	160	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GACTCTGGTTTACAATCACTT	0.562000														17			19		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	301808	301808	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:301808A>T	uc001qhz.3	-	15	2201	c.1537T>A	c.(1537-1539)Ttc>Atc	p.F513I	SLC6A12_uc001qhy.3_Missense_Mutation_p.F69I|SLC6A12_uc001qia.3_Missense_Mutation_p.F513I|SLC6A12_uc001qib.3_Missense_Mutation_p.F513I|SLC6A12_uc009zdh.2_Missense_Mutation_p.F513I	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	513					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.T512T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GAGAAGAGGAAAGTGGCCTGG	0.567000														24			16		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593689	11593689	+	Missense_Mutation	SNP	G	A	A	rs139715944		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:11593689G>A	uc002gne.3	+	19	4618	c.4550G>A	c.(4549-4551)cGa>cAa	p.R1517Q	DNAH9_uc010coo.3_Missense_Mutation_p.R811Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1517	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	p.R1517*(1)		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)		GAAGTGCAGCGAACATGGACT	0.483000														5			46		0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54161361	54161361	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:54161361G>A	uc004dsz.4	-	6	1602	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S	FAM120C_uc011moh.2_Missense_Mutation_p.P507S	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	507										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGGTAATTGGGAAACTGGGAT	0.512000														1			15		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957440	121957440	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:121957440C>T	uc003idq.1	-	3	2213	c.1686G>A	c.(1684-1686)gtG>gtA	p.V562V		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	562	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTCTAGTTTTCACAACCTTAC	0.378000														53			59		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20557780	20557780	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:20557780A>T	uc002dhj.4	-	9	1325	c.1115T>A	c.(1114-1116)gTt>gAt	p.V372D	ACSM2B_uc002dhk.4_Missense_Mutation_p.V372D|ACSM2B_uc010bwf.1_Missense_Mutation_p.V372D	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	372					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-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						TGTCTTGGAAACCATGCAAGT	0.468000														76			31		0	0	1	0	0
CPLX4	339302	broad.mit.edu	37	18	56963995	56963995	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:56963995C>T	uc002lhy.3	-	2	605	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	Homo sapiens complexin 4 (CPLX4), mRNA.	140					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TGGGCTTTTTCTTTTATGGTA	0.483000														40			5		0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91420205	91420205	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:91420205T>A	uc002bpu.1	+	4	668	c.452T>A	c.(451-453)aTt>aAt	p.I151N		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	151					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTGGTCTCCATTCTGGACGAT	0.602000														67			104		0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580552	580552	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:580552C>T	uc002kko.1	+	0	184	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	48	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.I48I(2)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GTGGGACCATCGACGCGAAGG	0.552000														14			27		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20970595	20970595	+	Silent	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:20970595A>G	uc010vbe.2	-	53	10732	c.10732T>C	c.(10732-10734)Tta>Cta	p.L3578L	DNAH3_uc010vbd.2_Silent_p.L1013L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3578	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)		CAGTTCTGTAAGACCACCCAG	0.537000														79			63		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42119601	42119601	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:42119601C>T	uc003gwn.3	-	5	2119	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G	BEND4_uc003gwm.3_3'UTR	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	513										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GGTGATCGATCCCTTCATAAA	0.522000														16			7		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201356158	201356158	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:201356158C>T	uc001gwm.3	-	2	566	c.331G>A	c.(331-333)Gag>Aag	p.E111K	LAD1_uc009wzu.1_Missense_Mutation_p.E133K	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	111						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCCAGCCTCTCCTGGATGGGG	0.622000														3			42		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161128794	161128794	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:161128794C>T	uc003qtm.4	+	2	360	c.248C>T	c.(247-249)tCc>tTc	p.S83F	PLG_uc021zhr.1_Missense_Mutation_p.S83F	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	83	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGGAAGTCCTCCATAATCATT	0.408000														89			44		0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64564326	64564326	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:64564326G>A	uc001obh.3	-	20	1539	c.1447C>T	c.(1447-1449)Ctg>Ttg	p.L483L	MAP4K2_uc001obi.3_Silent_p.L475L	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	483	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TGGATCCGCAGGGGGCAGCCA	0.657000														44			11		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802505	233802505	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:233802505T>C	uc010pxo.1	+	1	688	c.520T>C	c.(520-522)Ttc>Ctc	p.F174L		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	174						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CCGCTGGGGCTTCTCCAAGCA	0.612000														9			83		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257627	158257627	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:158257627G>A	uc003ipm.4	+	10	2031	c.1572G>A	c.(1570-1572)atG>atA	p.M524I	GRIA2_uc011cit.2_Missense_Mutation_p.M477I|GRIA2_uc003ipl.4_Missense_Mutation_p.M524I|GRIA2_uc003ipk.4_Missense_Mutation_p.M477I|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	524					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	p.I523I(1)		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)	TATCTATCATGATCAAGAAGC	0.423000														63			137		0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31664743	31664743	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:31664743G>T	uc003nvy.2	-	4	490	c.411C>A	c.(409-411)aaC>aaA	p.N137K	ABHD16A_uc003nvx.2_5'UTR|ABHD16A_uc011dny.2_Missense_Mutation_p.N104K|ABHD16A_uc010jtc.2_5'UTR|ABHD16A_uc011dnz.2_5'UTR|ABHD16A_uc011doa.2_Missense_Mutation_p.T39N	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	137						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTGAAGACTGGTTCCGATGTG	0.527000														45			38		1.07637e-12	1.08104e-12	1	1	0
NFATC4	4776	broad.mit.edu	37	14	24842975	24842975	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:24842975G>A	uc001wpc.3	+	4	1955	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	NFATC4_uc010alr.3_Missense_Mutation_p.R608H|NFATC4_uc010tok.2_Missense_Mutation_p.R608H|NFATC4_uc010tol.2_Missense_Mutation_p.R608H|NFATC4_uc010als.2_Missense_Mutation_p.R558H|NFATC4_uc010too.2_Missense_Mutation_p.R558H|NFATC4_uc010tom.2_Missense_Mutation_p.R558H|NFATC4_uc010ton.2_Missense_Mutation_p.R558H|NFATC4_uc010toq.2_Missense_Mutation_p.R577H|NFATC4_uc010alt.3_Missense_Mutation_p.R577H|NFATC4_uc010top.2_Missense_Mutation_p.R577H|NFATC4_uc010alu.3_Missense_Mutation_p.R237H|NFATC4_uc010tor.2_Missense_Mutation_p.R545H|NFATC4_uc010tos.2_Missense_Mutation_p.R475H|NFATC4_uc010tot.2_Missense_Mutation_p.R533H|NFATC4_uc010tou.2_Missense_Mutation_p.R475H|NFATC4_uc010tov.2_Missense_Mutation_p.R533H|NFATC4_uc010tow.2_Missense_Mutation_p.R475H|NFATC4_uc010alv.3_Missense_Mutation_p.R533H|NFATC4_uc010tox.2_Missense_Mutation_p.R475H|NFATC4_uc001wpd.3_Missense_Mutation_p.R80H|NFATC4_uc010toy.2_Missense_Mutation_p.R80H|NFATC4_uc010toz.2_Missense_Mutation_p.R80H|NFATC4_uc010tpa.2_5'UTR|NFATC4_uc010tpb.2_5'UTR	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	545	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R545H(2)|p.R608H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GACATCGGGCGCAAAAACACA	0.592000														51			3		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107431884	107431884	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:107431884C>T	uc004enw.4	-	20	1556	c.1453G>A	c.(1453-1455)Gac>Aac	p.D485N	COL4A6_uc004env.4_Missense_Mutation_p.D484N|COL4A6_uc011msn.2_Missense_Mutation_p.D484N|COL4A6_uc010npk.3_Missense_Mutation_p.D484N	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	485	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.D484E(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACACCACCGTCACAAGCACAG	0.498000									Alport syndrome with Diffuse Leiomyomatosis					4			20		0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26430439	26430439	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:26430439G>A	uc003grx.2	+	8	1120	c.884G>A	c.(883-885)aGa>aAa	p.R295K	RBPJ_uc003gry.2_Missense_Mutation_p.R280K|RBPJ_uc003grz.2_Missense_Mutation_p.R295K|RBPJ_uc011bxt.2_Missense_Mutation_p.R295K|RBPJ_uc003gsa.2_Missense_Mutation_p.R281K|RBPJ_uc003gsb.2_Missense_Mutation_p.R282K	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	295					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GATACAGAAAGAATGTATTTG	0.333000														31			4		0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2129146	2129146	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:2129146G>A	uc002lva.3	-	7	972	c.749C>T	c.(748-750)cCt>cTt	p.P250L	AP3D1_uc002luy.3_Intron|AP3D1_uc002luz.3_Missense_Mutation_p.P250L	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	250					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CGGTTCCAAAGGAGTAAGAGC	0.687000														3			5		0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561299	69561299	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:69561299G>A	uc002ary.1	+	4	1798	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	524					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TGACTTAAAAGAAACTGCAGG	0.403000														68			33		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179736897	179736897	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179736897T>A	uc002une.2	-	12	2160	c.2042A>T	c.(2041-2043)aAa>aTa	p.K681I	CCDC141_uc002unf.1_Missense_Mutation_p.K160I	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	106							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)			CCACTGCTGTTTTCCAGGCTT	0.483000														14			13		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138587	126138587	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:126138587G>A	uc001uhe.1	+	8	2576	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G	TMEM132B_uc001uhf.1_Silent_p.G368G	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	856						integral to membrane				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)		CCATGGAAGGGAAGAATAAGT	0.517000														12			18		0	0	1	0	0
RAB11B	9230	broad.mit.edu	37	19	8468310	8468310	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:8468310C>T	uc002mju.4	+	4	621	c.525C>T	c.(523-525)atC>atT	p.I175I	RAB11B_uc021uof.1_Non-coding_Transcript	NM_004218	NP_004209	Q15907	RB11B_HUMAN	Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA.	175					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						TCTACCGCATCGTGTCACAGA	0.662000														50			35		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354699	45354699	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:45354699C>T	uc002xsl.3	+	1	1121	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	342						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GACAGGCCTCCCTGGAGACTC	0.592000														55			40		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3141767	3141767	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:3141767G>C	uc022aqr.1	-	25	4442	c.4052C>G	c.(4051-4053)tCc>tGc	p.S1351C	CSMD1_uc011kwj.2_Missense_Mutation_p.S744C|CSMD1_uc003wqe.3_Missense_Mutation_p.S508C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1352	CUB 8.					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)		CGGAAGGGCGGAGCCACTCCA	0.562000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			15		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469612	98469612	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:98469612C>T	uc001kmq.3	-	1	270	c.142G>A	c.(142-144)Ggc>Agc	p.G48S		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	48						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GCCTCGGGGCCCAGCCTGTGA	0.627000														6			25		0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274658	51274658	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:51274658C>T	uc010ycf.2	+	0	801	c.801C>T	c.(799-801)atC>atT	p.I267I		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	267						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTTTCTTTATCTTCTGGTCCC	0.612000														45			37		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95941847	95941847	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:95941847T>C	uc002suk.3	+	2	597	c.464T>C	c.(463-465)aTg>aCg	p.M155T	PROM2_uc002suh.2_Missense_Mutation_p.M155T|PROM2_uc002sui.3_Missense_Mutation_p.M155T|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	155						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						GCGGCCCTCATGGTCTTCCTG	0.692000														26			21		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672166	45672166	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:45672166C>T	uc021qgn.1	-	0	308	c.308G>A	c.(307-309)cGc>cAc	p.R103H	CHST1_uc001mys.2_Missense_Mutation_p.R103H	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	103					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTGGGTGAAGCGGGGGATGAG	0.652000														62			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179426452	179426452	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179426452C>T	uc021vsy.1	-	274	76928	c.76703G>A	c.(76702-76704)gGa>gAa	p.G25568E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G19263E|TTN_uc021vta.1_Missense_Mutation_p.G19196E|TTN_uc021vtb.1_Missense_Mutation_p.G19071E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26495	Fibronectin type-III 86.						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)			GGAGCTCTTTCCATAGCGGTT	0.448000														14			16		0	0	1	0	0
RBM7	10179	broad.mit.edu	37	11	114273623	114273623	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:114273623C>T	uc001pow.3	+	2	343	c.333C>T	c.(331-333)tcC>tcT	p.S111S	C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.4_5'Flank|RBM7_uc001pov.3_Silent_p.S111S|RBM7_uc001pox.3_5'UTR	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.	111					meiosis		RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GCCCTACCTCCACATCTCCTA	0.353000														71			12		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607532	31607532	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:31607532C>T	uc002wyj.3	+	10	1250	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	352						extracellular region	lipid binding										ACTCGGCTTTCCAGTCCCTCT	0.637000														27			18		0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80203405	80203405	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:80203405C>T	uc003piy.3	-	4	1395	c.783G>A	c.(781-783)agG>agA	p.R261R	LCA5_uc003pix.3_Silent_p.R261R	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	261					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ATGCCCTTTTCCTTTCAGCAA	0.328000														18			5		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101944378	101944378	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:101944378C>T	uc001vox.1	-	8	1199	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E	NALCN_uc001voy.3_Missense_Mutation_p.G52E|NALCN_uc001voz.2_Missense_Mutation_p.G337E|NALCN_uc001vpa.2_Missense_Mutation_p.G337E	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	337						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTTCTCGATCCCCACATTTG	0.423000														47			12		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69758194	69758194	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:69758194C>T	uc010kak.3	+	12	2501	c.2225C>T	c.(2224-2226)cCa>cTa	p.P742L	BAI3_uc003pev.4_Missense_Mutation_p.P742L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	742					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTAGTAATTCCAAAAAGCATT	0.373000														11			21		0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3760055	3760055	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:3760055C>T	uc002lyp.1	-	1	385	c.208G>A	c.(208-210)Gat>Aat	p.D70N	MRPL54_uc002lyq.4_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.	70					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACCAGATCGCCTGGCAGA	0.637000														29			26		0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027925	92027925	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:92027925C>T	uc003ulw.2	+	19	3308	c.2932C>T	c.(2932-2934)Cat>Tat	p.H978Y	ANKIB1_uc010lew.1_Missense_Mutation_p.H247Y	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	978							protein binding|zinc ion binding	p.H978N(2)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGCTTGGTTTCATGACATGAA	0.488000														78			98		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080059	152080059	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:152080059C>T	uc009wne.1	-	2	5906	c.5634G>A	c.(5632-5634)agG>agA	p.R1878R	TCHH_uc001ezp.2_Silent_p.R1878R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1878	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGTAATTTCCTTTCCCGTT	0.577000														10			144		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156815192	156815192	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:156815192C>T	uc010pht.2	-	10	2487	c.2188G>A	c.(2188-2190)Gtg>Atg	p.V730M	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	730					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGGACGTCACCTTCCAAGGG	0.647000														3			53		0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176332394	176332394	+	Silent	SNP	A	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:176332394A>C	uc021yil.1	-	14	2216	c.2049T>G	c.(2047-2049)gtT>gtG	p.V683V	UIMC1_uc021yim.1_Silent_p.V683V|UIMC1_uc021yin.1_Silent_p.V683V|UIMC1_uc003mfd.2_Silent_p.V313V	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	683					G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGAAATGGAAACAAAAGACT	0.493000														67			41		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566790	4566790	+	Missense_Mutation	SNP	C	T	T	rs61751908	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:4566790C>T	uc010qyf.2	+	0	370	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTTTGATCGCTACGTGGC	0.527000														53			15		0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125748	58125748	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:58125748G>A	uc010rke.2	-	0	795	c.795C>T	c.(793-795)tcC>tcT	p.S265S		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTGTCCATGGAATGACTGG	0.403000														30			35		0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4310507	4310507	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:4310507A>G	uc002lzy.2	+	5	557	c.404A>G	c.(403-405)aAa>aGa	p.K135R	FSD1_uc010xie.2_Missense_Mutation_p.K122R|FSD1_uc010xif.2_Silent_p.E118E|FSD1_uc002maa.2_5'Flank	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	135	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		p.L134F(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATCATTGAAAGCGAAGGTC	0.622000														72			38		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390604	48390604	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:48390604C>T	uc001jez.3	-	0	388	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	92	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)	GTGCTGGGCTCATAGGAGATG	0.627000														11			49		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63727047	63727047	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:63727047C>T	uc003tsx.3	+	4	1305	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	346					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						TAAGATAATTCATACTGGAGA	0.398000														22			8		0	0	1	0	0
ELAC1	55520	broad.mit.edu	37	18	48500853	48500853	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:48500853C>T	uc002lez.3	+	1	185	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	ELAC1_uc010dpe.3_Missense_Mutation_p.R27W|SMAD4_uc010xdo.1_Non-coding_Transcript	NM_018696	NP_061166	Q9H777	RNZ1_HUMAN	Homo sapiens elaC homolog 1 (E. coli) (ELAC1), mRNA.	27					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TGTGGTCCTTCGGTGTGAAGG	0.532000														66			11		0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94231318	94231318	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:94231318C>T	uc001pew.3	+	2	479	c.340C>T	c.(340-342)Cga>Tga	p.R114*	ANKRD49_uc001pex.3_3'UTR|ANKRD49_uc001pey.3_Non-coding_Transcript	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	Homo sapiens ankyrin repeat domain 49 (ANKRD49), mRNA.	114					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCCTCTTCATCGAGCAGCCTA	0.502000														15			47		0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97263174	97263174	+	Missense_Mutation	SNP	G	A	A	rs148129681	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:97263174G>A	uc003yhs.1	-	3	715	c.637C>T	c.(637-639)Cat>Tat	p.H213Y	MTERFD1_uc003yhr.1_Missense_Mutation_p.H92Y|MTERFD1_uc010mbd.1_Missense_Mutation_p.H213Y	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	213					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	p.H213Y(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAAATTGCATGATTTTTTGTC	0.348000														136			24		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44193026	44193026	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:44193026C>T	uc003tkl.2	-	1	552	c.82G>A	c.(82-84)Gag>Aag	p.E28K	GCK_uc003tkj.1_Missense_Mutation_p.E27K|GCK_uc003tkk.1_Missense_Mutation_p.E29K	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	28					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TTCAGGTCCTCCTCCTGCAGC	0.627000														141			179		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282066	152282066	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:152282066G>A	uc001ezu.1	-	2	5332	c.5296C>T	c.(5296-5298)Ctc>Ttc	p.L1766F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1766	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.F1765F(1)		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)			ACCTGGTAGAGGAAAGACCCT	0.612000									Ichthyosis					29			409		0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9719703	9719703	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:9719703C>T	uc003brz.3	+	8	1009	c.858C>T	c.(856-858)ttC>ttT	p.F286F	MTMR14_uc003bsa.3_Silent_p.F286F|MTMR14_uc003bsb.3_Silent_p.F286F|MTMR14_uc011ath.2_Intron|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Non-coding_Transcript	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	286						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCCCCGACTTCCTGACTCACT	0.547000														26			53		0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623858	21623858	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:21623858G>A	uc010tlp.2	-	0	327	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	109					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)		GGGAGTACATGGGTGTGTGCA	0.562000														25			8		0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108568024	108568024	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:108568024G>A	uc003dxi.1	+	4	370	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	TRAT1_uc010hpx.1_Missense_Mutation_p.E39K	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	76					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACCAATGGATGAAAATTGCTA	0.343000														35			7		0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157178021	157178022	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:157178021_157178022CC>TT	uc003fbj.2	-	3	896_897	c.477_478GG>AA	c.(475-480)aaggca>aaAAca	p.A160T	VEPH1_uc003fbk.2_Missense_Mutation_p.A160T|VEPH1_uc010hvu.2_Missense_Mutation_p.A160T|VEPH1_uc021xgk.1_Missense_Mutation_p.A160T|VEPH1_uc003fbn.3_Missense_Mutation_p.A160T|VEPH1_uc003fbm.3_Missense_Mutation_p.A160T	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	160						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGAGATCTGCCTTGGTAATTG	0.455000														48			71		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47480712	47480712	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:47480712C>T	uc002leb.2	-	12	1927	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T	MYO5B_uc021ukb.1_Missense_Mutation_p.A546T	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	547	Myosin head-like.				protein transport	myosin complex	ATP binding|actin 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)		ATGATGAAGGCCGTGTTGGAC	0.567000														27			41		0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51818283	51818283	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:51818283C>T	uc002lfj.4	+	8	1347	c.1279C>T	c.(1279-1281)Cac>Tac	p.H427Y	POLI_uc010xds.2_Missense_Mutation_p.H348Y|POLI_uc002lfk.4_Missense_Mutation_p.H324Y|POLI_uc010dpg.3_Missense_Mutation_p.H23Y	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	427					DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GATGCCATTTCACCTTACCCT	0.323000								DNA polymerases (catalytic subunits)						24			31		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16975689	16975689	+	RNA	SNP	G	C	C	rs138200686	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:16975689G>C	uc010och.2	+	9		c.1838G>C			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CATTTCTGCGGGGGGTCTCTA	0.582000														26			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256596	140256596	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140256596G>A	uc003lic.2	+	0	1666	c.1539G>A	c.(1537-1539)gaG>gaA	p.E513E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.E513E	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	527	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACGCGGAGAGCGGCAAGG	0.706000														47			255		0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220423149	220423149	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:220423149G>A	uc010fwk.3	-	9	3573	c.3259C>T	c.(3259-3261)Cgc>Tgc	p.R1087C	OBSL1_uc002vmh.1_Missense_Mutation_p.R78C|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.2_Missense_Mutation_p.R1087C	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1087	Ig-like 9.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCCAGGGAGCGGGCTGCCGGG	0.677000														5			6		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42796515	42796515	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:42796515C>T	uc003osn.1	+	5	595	c.444C>T	c.(442-444)tcC>tcT	p.S148S	KIAA0240_uc003osm.1_Silent_p.S148S|KIAA0240_uc011duw.1_Silent_p.S148S|KIAA0240_uc003oso.1_Silent_p.S148S|KIAA0240_uc003osp.1_Silent_p.S148S	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	148										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CATCAGCATCCTTTACTCAGG	0.463000														84			68		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189785	124189785	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:124189785G>A	uc010sah.2	-	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	103					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)		AAATAAGGAAGAAATAAAGTT	0.403000														39			10		0	0	1	0	0
F3	2152	broad.mit.edu	37	1	94996126	94996126	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:94996126C>T	uc001dqr.3	-	5	999	c.778G>A	c.(778-780)Gta>Ata	p.V260I	F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Non-coding_Transcript|F3_uc001dqs.3_Nonsense_Mutation_p.W206*	NM_001993	NP_001984	P13726	TF_HUMAN	Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA.	260				V -> A (in Ref. 1; AAA61151).	activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	ACCACAAATACCACAGCTCCA	0.433000														3			74		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87018239	87018239	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:87018239G>A	uc003dqn.3	-	2	802	c.438C>T	c.(436-438)ttC>ttT	p.F146F		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AGGAAGTTGGGAAACTATTCC	0.478000														74			19		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43606952	43606952	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:43606952A>T	uc003bdt.2	-	17	2486	c.2359T>A	c.(2359-2361)Tcc>Acc	p.S787T		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	787					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ACGTTGGTGGAGCCATCGAAG	0.652000														34			34		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716344	18716344	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:18716344G>A	uc001rdt.3	+	26	3807	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1272K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E1050K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1231	PX.				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)				CAGCAACAACGAAACAAGCCT	0.418000														13			5		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5848488	5848488	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:5848488C>T	uc001qnm.2	-	12	1489	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	478						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.E473G(1)		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						CTCACTTCTTCCTCTTCTATG	0.433000														5			6		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600878	141600878	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:141600878G>A	uc010ioj.3	-	3	752	c.480C>T	c.(478-480)ctC>ctT	p.L160L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	160	GRAM 1.					intracellular	Rab GTPase activator activity|calcium ion binding	p.L160L(3)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AATAGTTGACGAGTTTCTCTT	0.418000														13			25		0	0	1	0	0
TAX1BP3	30851	broad.mit.edu	37	17	3567173	3567173	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:3567173C>T	uc002fwc.3	-	3	397	c.244G>A	c.(244-246)Ggc>Agc	p.G82S	TAX1BP3_uc021tnt.1_Missense_Mutation_p.G56S|P2RX5_uc002fwd.3_Non-coding_Transcript|TAX1BP3_uc002fwe.1_3'UTR	NM_014604	NP_055419	O14907	TX1B3_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 3 (TAX1BP3), transcript variant 1, mRNA.	82	PDZ.				Rho protein signal transduction|Wnt receptor signaling pathway|activation of Cdc42 GTPase activity|negative regulation of Wnt receptor signaling pathway|negative regulation of protein localization at cell surface	cytoplasm|nucleus	protein C-terminus binding			endometrium(1)	1				COAD - Colon adenocarcinoma(5;0.0761)		ATGTCCCAGCCGTTCACCTGG	0.652000														2			16		0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017539	101017539	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:101017539C>T	uc001thu.3	+	9	1182	c.956C>T	c.(955-957)cCt>cTt	p.P319L	GAS2L3_uc009zty.3_Missense_Mutation_p.P319L|GAS2L3_uc001thv.3_Missense_Mutation_p.P215L	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	319					cell cycle arrest			p.P319L(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GAAATGAATCCTTTGTCAGCA	0.403000														34			15		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577721	9577721	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9577721C>T	uc002mlp.1	-	9	2112	c.1902G>A	c.(1900-1902)ggG>ggA	p.G634G	ZNF560_uc010dwr.1_Silent_p.G528G	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G634G(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CAAAGGCTTTCCCACAGTCCT	0.378000														47			51		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210570368	210570368	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:210570368C>T	uc002vde.1	+	10	4897	c.4649C>T	c.(4648-4650)cCt>cTt	p.P1550L	MAP2_uc002vdd.1_Missense_Mutation_p.P251L|MAP2_uc002vdf.1_Missense_Mutation_p.P194L|MAP2_uc002vdg.1_Missense_Mutation_p.P194L|MAP2_uc002vdh.1_Missense_Mutation_p.P251L|MAP2_uc002vdi.1_Missense_Mutation_p.P1546L	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1550					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATTCTCCCTCCTCGGCGAGGT	0.478000														51			36		0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289185	46289185	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:46289185G>A	uc002pdj.1	-	2	1615	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	DMWD_uc021uwc.1_Missense_Mutation_p.S177L|DMWD_uc010eko.1_Silent_p.F208F	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	523					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGAGCGTGGCGAAGCGGCCAA	0.706000														31			23		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333016	70333016	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:70333016C>T	uc001oqc.3	-	20	3296	c.3184G>A	c.(3184-3186)Gag>Aag	p.E1062K	SHANK2_uc010rqn.2_Missense_Mutation_p.E538K|SHANK2_uc001opz.3_Missense_Mutation_p.E533K|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	749					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCCCCCTCCTCGGGGAACATG	0.677000														45			10		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63099229	63099229	+	Silent	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:63099229T>C	uc001daq.3	-	9	1090	c.1056A>G	c.(1054-1056)caA>caG	p.Q352Q	DOCK7_uc001dan.3_Silent_p.Q244Q|DOCK7_uc001dao.3_Silent_p.Q244Q|DOCK7_uc001dap.3_Silent_p.Q352Q|DOCK7_uc009wah.1_Silent_p.Q352Q	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	352					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAATGTCTCCTTGCTGTAGGA	0.353000														11			210		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	109002825	109002825	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:109002825A>C	uc002tea.1	+	5	1166	c.793A>C	c.(793-795)Aaa>Caa	p.K265Q	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.K190Q	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	265					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						ATTCATGAGAAAAGGTTTTTA	0.313000														21			9		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55984565	55984565	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:55984565T>G	uc021wzo.1	-	11	2431	c.2291A>C	c.(2290-2292)aAg>aCg	p.K764T	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.K760T|ERC2_uc003dht.1_Missense_Mutation_p.K243T	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	764						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)		GTTGGCCACCTTCTTATTCTG	0.408000														22			30		0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107871528	107871528	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:107871528G>A	uc022aka.1	-	4	603	c.497C>T	c.(496-498)cCc>cTc	p.P166L	NRCAM_uc011kmk.2_Missense_Mutation_p.P166L|NRCAM_uc003vfd.3_Missense_Mutation_p.P166L|NRCAM_uc003vfe.3_Missense_Mutation_p.P166L|NRCAM_uc003vfc.3_Missense_Mutation_p.P160L	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	166	Ig-like 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGGTCTGCAGGGAAGTACTAA	0.323000														27			19		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132051895	132051895	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:132051895G>A	uc003ytd.4	-	0	941	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	ADCY8_uc010mds.3_Silent_p.L229L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	229					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	p.A228V(1)		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)			ACCACCACCAGGGCGCAGATC	0.632000										HNSCC(32;0.087)				23			50		0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42854278	42854278	+	Nonsense_Mutation	SNP	C	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:42854278C>G	uc002ihh.3	+	19	1629	c.1629C>G	c.(1627-1629)taC>taG	p.Y543*	ADAM11_uc010wjd.2_Nonsense_Mutation_p.Y343*|ADAM11_uc002ihi.3_5'Flank	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	543	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCGCTGCTACGGAGGTCGCT	0.612000														28			111		0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151114356	151114356	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:151114356C>T	uc003ilo.4	+	2	1577	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.R275C|DCLK2_uc003iln.4_Missense_Mutation_p.R275C	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	275	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AGAAAAATTTCGTTATGCCCA	0.368000														63			76		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94953763	94953763	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:94953763G>A	uc003uns.3	-	0	122	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	PON1_uc011kih.2_Intron	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	9					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ATCCCCAAGAGGGTGAGCGCA	0.612000														10			23		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7475048	7475049	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:7475048_7475049GG>AT	uc001qsx.1	+	6	1036_1037	c.1036_1037GG>AT	c.(1036-1038)gga>ATa	p.G346I		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	346					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.T345T(1)		endometrium(6)|kidney(1)|lung(14)	21						CTGCTTGACCGGAGGGGAGCCA	0.500000														11			13		0	0	1	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47972658	47972658	+	Silent	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:47972658A>G	uc011mlv.2	+	4	435	c.363A>G	c.(361-363)gaA>gaG	p.E121E	LOC100509575_uc022bvt.1_Intron	NM_001205103	NP_001192032	B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.	121					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										GGACCAGAGAACCTTTGTCCC	0.458000														2			38		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36322248	36322248	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:36322248C>T	uc002oby.3	-	25	3493	c.3337G>A	c.(3337-3339)Gaa>Aaa	p.E1113K	NPHS1_uc010eem.1_Non-coding_Transcript	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1113					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.E1113K(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTCATATTCGTTCCTGACT	0.632000														53			39		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24870477	24870477	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:24870477G>A	uc003sxf.3	-	15	2199	c.1794C>T	c.(1792-1794)taC>taT	p.Y598Y	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Silent_p.Y562Y|OSBPL3_uc003sxh.3_Silent_p.Y567Y|OSBPL3_uc003sxi.3_Silent_p.Y531Y	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	598					lipid transport		lipid binding|protein binding	p.Y598Y(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTCCAGCTCGGTAGTAGCTAG	0.428000														118			73		0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101320943	101320943	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:101320943G>C	uc001vot.3	-	2	422	c.109C>G	c.(109-111)Cct>Gct	p.P37A	TMTC4_uc001vou.3_Missense_Mutation_p.P18A|TMTC4_uc010tja.2_Missense_Mutation_p.P18A	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	18						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGAATGGAGGAAGAACAGAA	0.468000														112			28		0	0	1	0	0
TRAV38-2DV8	28643	broad.mit.edu	37	14	22749563	22749563	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:22749563C>T	uc010tmr.2	+	1	327	c.281C>T	c.(280-282)tCc>tTc	p.S94F	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron					SubName: Full=HADV38S2; Flags: Fragment;																		GCAGCCAAATCCTTCAGTCTC	0.483000														32			12		0	0	1	0	0
LXN	56925	broad.mit.edu	37	3	158387396	158387396	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:158387396C>T	uc003fch.3	-	2	411	c.196G>A	c.(196-198)Gtt>Att	p.V66I	GFM1_uc003fcd.3_Intron|GFM1_uc003fce.3_Intron|GFM1_uc003fcg.3_Intron|LXN_uc011bov.1_Missense_Mutation_p.V66I	NM_020169	NP_064554	Q9BS40	LXN_HUMAN	Homo sapiens latexin (LXN), mRNA.	66						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTCACCTTAACTTGCTGTTTG	0.358000														8			23		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111638045	111638045	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:111638045G>A	uc010hqa.3	+	3	2257	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	PHLDB2_uc003dyc.3_Missense_Mutation_p.D643N|PHLDB2_uc003dyd.3_Missense_Mutation_p.D616N|PHLDB2_uc003dyg.3_Missense_Mutation_p.D616N|PHLDB2_uc003dyh.3_Missense_Mutation_p.D616N|PHLDB2_uc003dyi.3_Missense_Mutation_p.D202N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	616						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGATCAGATGGATGAGTCTTT	0.383000														31			41		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74971538	74971538	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:74971538C>T	uc001xqa.3	-	29	4783	c.4396G>A	c.(4396-4398)Gga>Aga	p.G1466R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1466					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)		TAGCCTTTTCCACTAGGGCAG	0.542000														16			12		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415648	88415648	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:88415648C>T	uc010ikm.3	-	4	876	c.304G>A	c.(304-306)Gac>Aac	p.D102N	SPARCL1_uc011cdc.2_5'UTR|SPARCL1_uc003hqs.4_Missense_Mutation_p.D102N|SPARCL1_uc011cdd.2_5'UTR	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	102					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.E101D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CCATCACTGTCCTCTTGATCC	0.418000														34			43		0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707490	50707490	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:50707490G>A	uc002egk.2	-	3	951	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	260					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TGGCCCTCCCGGGCCTGCAGG	0.726000														37			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466747	179466747	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179466747C>T	uc021vsy.1	-	232	47772	c.47547G>A	c.(47545-47547)aaG>aaA	p.K15849K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K9544K|TTN_uc021vta.1_Silent_p.K9477K|TTN_uc021vtb.1_Silent_p.K9352K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16776	Fibronectin type-III 15.						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)			CTTTCTTTGCCTTTCCATCAA	0.408000														45			32		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155198941	155198941	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:155198941G>A	uc021xge.1	-	22	5175	c.4898C>T	c.(4897-4899)tCc>tTc	p.S1633F	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.S1595F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1633					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)			TGCGATGTAGGAGCCGGTGGA	0.582000														37			9		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465882	10465882	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:10465882G>A	uc003wtc.3	-	3	5955	c.5726C>T	c.(5725-5727)cCg>cTg	p.P1909L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1909					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)		TTCTGCCTCCGGGGCTTCTGC	0.607000														174			182		0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	465366	465366	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:465366C>T	uc003jba.3	+	10	2045	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	650					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGCTGCGCTTCCTGTTCCGGA	0.682000														10			6		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229835	39229835	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:39229835G>A	uc003cjk.2	-	1	1331	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S	XIRP1_uc003cji.3_Missense_Mutation_p.P368S|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.P368S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	368							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)		TCCTTGGGTGGGGCCTCTGCT	0.577000														55			111		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883717	228883717	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:228883717C>T	uc002vpq.2	-	6	1900	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G618E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G618E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	618						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)		CTTGAGCAATCCCTTGGCAAT	0.522000														7			9		0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232209755	232209755	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:232209755C>T	uc002vrq.4	+	20	2059	c.1947C>T	c.(1945-1947)ccC>ccT	p.P649P	ARMC9_uc002vrp.4_Silent_p.P649P|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	649							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGGATGAGCCCCTGCAAAGGC	0.552000														30			32		0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120178263	120178263	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:120178263G>A	uc021qrk.1	+	8	885	c.851G>A	c.(850-852)aGa>aAa	p.R284K	POU2F3_uc001pxc.3_Missense_Mutation_p.R282K|POU2F3_uc010rzk.2_Missense_Mutation_p.R236K|POU2F3_uc010rzl.2_Missense_Mutation_p.R212K|POU2F3_uc001pxe.1_Missense_Mutation_p.R67K	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	282					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGTAGGAAGAGAAAGAAACGG	0.582000														50			108		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847718	123847718	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:123847718G>A	uc001pzm.1	-	0	681	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAATAACGATGAGGATGAGGC	0.582000														22			37		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179201279	179201279	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:179201279C>T	uc003mkm.3	+	4	2715	c.2452C>T	c.(2452-2454)Cct>Tct	p.P818S	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	818					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)			GACCCTGAACCCTGGTTTAAC	0.597000														23			7		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1081659	1081659	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:1081659G>A	uc001lsx.1	+	12	1614	c.1587G>A	c.(1585-1587)ggG>ggA	p.G529G		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	529	VWFD 2.					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)	GCCTCTGCGGGAACTTCAACG	0.662000														3			15		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100658	184100658	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:184100658C>T	uc003fov.3	+	8	1243	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	CHRD_uc003fow.3_Intron|CHRD_uc003fox.3_Missense_Mutation_p.P333S|CHRD_uc003foy.3_Intron|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'UTR	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	333	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AACCCAGGTTCCCTTGAGGCT	0.587000														26			9		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894813	47894813	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:47894813G>A	uc003tny.2	-	28	4675	c.4641C>T	c.(4639-4641)ccC>ccT	p.P1547P		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1547	REJ.				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						GCCTGTTGATGGGTCTTCTGC	0.502000														37			40		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720043	140720043	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140720043C>T	uc003ljk.2	+	0	1690	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S502F	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	504	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCCTTATCCTCTTACATC	0.527000														37			158		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027332	55027332	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:55027332C>T	uc002lgn.3	+	3	1324	c.967C>T	c.(967-969)Ccg>Tcg	p.P323S		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	323					N-glycan processing|glycosphingolipid biosynthetic process|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)		TGGATTTTGGCCGTTTGGATT	0.428000														15			27		0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97587155	97587155	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:97587155C>T	uc010kcm.1	+	10	2332	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	KLHL32_uc003poz.2_Silent_p.I176I|KLHL32_uc011ead.1_Silent_p.I584I|KLHL32_uc011eae.1_Silent_p.I551I|KLHL32_uc003ppa.2_Non-coding_Transcript|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	620										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TTGGCACCATCTGAAAAGCCA	0.453000														37			13		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75203129	75203130	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:75203129_75203130CC>TT	uc003uds.2	-	7	726_727	c.681_682GG>AA	c.(679-684)caggtc>caAAtc	p.V228I	HIP1_uc011kfz.2_Missense_Mutation_p.V228I	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	228					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	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|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						TCCAAGATGACCTGGATCAGCG	0.535000			T	PDGFRB	CMML									49			42		0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003822	228003822	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:228003822C>T	uc001hrh.3	+	1	180	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGGGGAAAATCCTGGGCGGCG	0.677000														11			149		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103385889	103385889	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:103385889G>A	uc001dum.3	-	48	4094	c.3776C>T	c.(3775-3777)tCa>tTa	p.S1259L	COL11A1_uc001duk.3_Missense_Mutation_p.S443L|COL11A1_uc001dul.3_Missense_Mutation_p.S1247L|COL11A1_uc001dun.3_Missense_Mutation_p.S1208L|COL11A1_uc009weh.3_Missense_Mutation_p.S1131L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1247	Triple-helical region.				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)		ACCACCAACTGAACCAACAGA	0.363000														7			167		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94376855	94376855	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:94376855C>T	uc011cdt.2	+	10	1846	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	GRID2_uc011cdu.2_Missense_Mutation_p.R435C	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	530					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)	CACTCCAGATCGTGAAAATGT	0.418000														59			16		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280496	105280496	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:105280496A>T	uc010npd.3	-	0	789	c.554T>A	c.(553-555)gTt>gAt	p.V185D	SERPINA7_uc004eme.2_Missense_Mutation_p.V185D|SERPINA7_uc010npe.2_Missense_Mutation_p.V185D	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	185					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TAGACCCACAACTTTCCCTTT	0.408000														12			69		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556515	52556516	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:52556515_52556516CC>TT	uc002lfr.3	+	5	771_772	c.528_529CC>TT	c.(526-531)accctt>acTTtt	p.L177F		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	177					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CTGTAGAAACCCTTTTGGACTT	0.401000														75			8		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294122	219294122	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:219294122C>T	uc002vib.3	+	5	704	c.682C>T	c.(682-684)Cac>Tac	p.H228Y	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.H228Y|VIL1_uc002vic.1_Missense_Mutation_p.H228Y	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	228	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGATGAACCACGTGCTGGG	0.632000														56			27		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311856	48311856	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:48311856G>A	uc003toq.2	+	16	2617	c.2593G>A	c.(2593-2595)Gag>Aag	p.E865K	ABCA13_uc010kyr.2_Missense_Mutation_p.E368K|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	865					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						TCCAGAAAATGAGATTCTGAG	0.333000														50			51		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158074127	158074127	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:158074127G>A	uc003ipj.2	+	8	1364	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	GLRB_uc021xtp.1_Intron|GLRB_uc021xtq.1_Missense_Mutation_p.G388R	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	388					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)	TACTGTGAATGGAACAGGGAC	0.418000														28			16		0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666294	30666294	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:30666294C>T	uc002dyy.3	+	7	1261	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S	PRR14_uc002dyz.3_Missense_Mutation_p.P180S|PRR14_uc002dza.3_Missense_Mutation_p.P335S|PRR14_uc002dzb.1_Missense_Mutation_p.P149S	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	335	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CTACTCCTGCCCTGATCTGGG	0.682000														45			30		0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39750787	39750787	+	Silent	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:39750787A>G	uc002xjl.3	+	19	2433	c.2187A>G	c.(2185-2187)acA>acG	p.T729T	BC035080_uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	729			T -> A (in CPT-resistant lung cancer).		DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CTAGGATCACAGTGGCTTGGT	0.507000			T	NUP98	AML*									74			81		0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73686155	73686155	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:73686155G>A	uc001oup.1	-	7	1207	c.827C>T	c.(826-828)tCc>tTc	p.S276F		NM_003355	NP_003346	P55851	UCP2_HUMAN	Homo sapiens uncoupling protein 2 (mitochondrial, proton carrier) (UCP2), nuclear gene encoding mitochondrial protein, mRNA.	276	Purine nucleotide binding (By similarity).				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GCGGAGAAAGGAGGGCATGAA	0.567000														8			5		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183675628	183675628	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:183675628G>A	uc003ivd.1	+	20	4183	c.4108G>A	c.(4108-4110)Gaa>Aaa	p.E1370K	ODZ3_uc003ive.1_Missense_Mutation_p.E783K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1370					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACAGATCACTGAAAATCGTCA	0.473000														13			12		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231155212	231155212	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:231155212G>A	uc002vql.3	+	18	1873	c.1758G>A	c.(1756-1758)aaG>aaA	p.K586K	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Silent_p.K472K|SP140_uc002vqm.3_Silent_p.K526K|SP140_uc010fxl.3_Silent_p.K559K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	586	SAND.				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)		TGGATTTTAAGGCTCCTTTGC	0.433000														46			38		0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99608308	99608308	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:99608308A>T	uc003yio.3	-	8	1332	c.858T>A	c.(856-858)tgT>tgA	p.C286*	STK3_uc003yip.3_Nonsense_Mutation_p.C258*|STK3_uc010mbm.1_Nonsense_Mutation_p.C147*	NM_006281	NP_006272	Q13188	STK3_HUMAN	Homo sapiens serine/threonine kinase 3 (STK3), transcript variant 1, mRNA.	258					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCTTCACCAAACACTTTTTAA	0.403000														40			27		0	0	1	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9159803	9159803	+	RNA	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrY:9159803C>T	uc004frl.1	-	1		c.209G>A								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		CCTTTCCATTCATATCTTTGG	0.318000														8			30		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9364934	9364934	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:9364934G>A	uc021wam.1	+	10	955	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	PLCB4_uc010gbw.1_Missense_Mutation_p.E314K|PLCB4_uc010gbx.3_Missense_Mutation_p.E314K|PLCB4_uc021wal.1_Missense_Mutation_p.E314K|PLCB4_uc002wnh.3_Missense_Mutation_p.E161K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	314	PI-PLC X-box.				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						ACTTTACCAAGAAATGGACCA	0.443000														138			30		0	0	1	0	0
IMMP2L	83943	broad.mit.edu	37	7	111161452	111161452	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:111161452C>T	uc003vfq.2	-	1	495	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	IMMP2L_uc010ljr.2_Missense_Mutation_p.G18S|IMMP2L_uc003vfr.3_Missense_Mutation_p.G18S	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	Homo sapiens IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) (IMMP2L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	18					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		ACAAAGAAGCCTTTACAAAAG	0.438000														34			54		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86493599	86493599	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:86493599C>T	uc003uid.3	+	6	3666	c.2567_splice	c.e6-1	p.S856_splice	GRM3_uc010lef.3_Splice_Site_p.V498_splice|GRM3_uc010leg.3_Splice_Site_p.S728_splice|GRM3_uc010leh.3_Splice_Site_p.S448_splice	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	856				S -> Y (in Ref. 3; AAH22496).	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)	GTTTTCCAGCCTCTGCAAGCA	0.488000														34			38		0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77320971	77320971	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:77320971G>A	uc002bcf.2	+	6	944	c.494G>A	c.(493-495)gGc>gAc	p.G165D	PSTPIP1_uc010bkt.1_Non-coding_Transcript|PSTPIP1_uc010umo.1_Missense_Mutation_p.G43D|PSTPIP1_uc010bku.1_Missense_Mutation_p.G156D|PSTPIP1_uc010bkv.1_Non-coding_Transcript|PSTPIP1_uc010bkw.1_Missense_Mutation_p.G165D	NM_003978	NP_003969	O43586	PPIP1_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1), mRNA.	165					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						AGCGCCAACGGCCACCAGAAG	0.677000														2			4		0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31072631	31072631	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:31072631C>T	uc021tgt.1	-	3	2043	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	ZNF668_uc010cag.2_Missense_Mutation_p.E540K|ZNF668_uc010caf.3_Missense_Mutation_p.E540K|ZNF668_uc002eao.3_Missense_Mutation_p.E540K	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	540					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						GGCCGGAGCTCCGGGTGTGAG	0.652000														40			48		0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56348519	56348519	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:56348519C>T	uc002lhm.1	+	1	585	c.327C>T	c.(325-327)ttC>ttT	p.F109F	MALT1_uc002lhn.1_Silent_p.F109F	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	109	Death.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TGAGTGATTTCCTGCAGGCTA	0.468000			T	BIRC3	MALT									48			12		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70974854	70974854	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:70974854C>T	uc001swb.4	-	7	1916	c.1886G>A	c.(1885-1887)gGg>gAg	p.G629E	PTPRB_uc010sto.2_Missense_Mutation_p.G629E|PTPRB_uc010stp.2_Missense_Mutation_p.G539E|PTPRB_uc001swc.4_Missense_Mutation_p.G847E|PTPRB_uc001swa.4_Missense_Mutation_p.G847E|PTPRB_uc001swd.4_Missense_Mutation_p.G846E|PTPRB_uc009zrr.2_Missense_Mutation_p.G726E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	629	Fibronectin type-III 7.				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)			GGAAGAGATCCCTCCACTCAC	0.468000														19			32		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692517	135692517	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:135692517C>T	uc003lbn.2	-	1	781	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	TRPC7_uc010jef.2_Missense_Mutation_p.G178S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.G187S|TRPC7_uc010jei.2_Missense_Mutation_p.G187S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	187					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)			ATGCGGGCGCCCTTGAGCAGC	0.617000														211			29		0	0	1	0	0
TMEM88	92162	broad.mit.edu	37	17	7758981	7758981	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:7758981G>A	uc002giy.3	+	1	438	c.429G>A	c.(427-429)cgG>cgA	p.R143R	CYB5D1_uc002gjb.4_5'Flank	NM_203411	NP_981956	Q6PEY1	TMM88_HUMAN	Homo sapiens transmembrane protein 88 (TMEM88), mRNA.	143						integral to membrane				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				GGCAAATCCGGGCCTCACCAG	0.662000														1			11		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862691	154862691	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:154862691G>A	uc003wlu.1	+	0	146	c.82G>A	c.(82-84)Gac>Aac	p.D28N	LOC100128264_uc003wlt.2_Intron|LOC100128264_uc011kvt.1_Intron	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	28						integral to plasma membrane	serotonin receptor activity	p.D28H(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGGCAAAGACGACCTGCGCCC	0.607000														45			59		0	0	1	0	0
DNAL4	10126	broad.mit.edu	37	22	39175483	39175483	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:39175483G>A	uc003awj.3	-	3	517	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	SUN2_uc010gxr.2_Intron	NM_005740	NP_005731	O96015	DNAL4_HUMAN	Homo sapiens dynein, axonemal, light chain 4 (DNAL4), mRNA.	97					microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity			lung(1)|skin(1)	2	Melanoma(58;0.04)					CACACAGCCAGGGTGCCCCCG	0.627000														4			4		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32720837	32720837	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:32720837T>G	uc001mtv.3	-	5	394	c.350A>C	c.(349-351)aAa>aCa	p.K117T	CCDC73_uc001mtw.1_Missense_Mutation_p.K117T|CCDC73_uc009yjt.3_Missense_Mutation_p.K117T	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	117										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCTATTTCTTTTTCCTTTAT	0.244000														2			7		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28849369	28849369	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:28849369G>A	uc002rmb.2	+	50	3698	c.3654G>A	c.(3652-3654)gaG>gaA	p.E1218E	PLB1_uc010ezj.2_Silent_p.E1207E|PLB1_uc002rme.2_Silent_p.E183E	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1218	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			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)					ATTACTGTGAGAATCCGGTAG	0.562000														33			20		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9044558	9044558	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:9044558G>A	uc003jek.2	-	21	3744	c.3032C>T	c.(3031-3033)cCt>cTt	p.P1011L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	1011					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAGGGGGGCAGGTGAGACGGG	0.517000														64			72		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50230308	50230308	+	Silent	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:50230308A>G	uc002xwg.1	-	22	2479	c.2479T>C	c.(2479-2481)Ttg>Ctg	p.L827L	ATP9A_uc010gih.1_Silent_p.L691L|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	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														172			142		0	0	1	0	0
GPR143	4935	broad.mit.edu	37	X	9714140	9714140	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:9714140G>A	uc004cst.2	-	4	750	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	201					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	Golgi apparatus|apical plasma membrane|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	L-DOPA receptor activity|dopamine binding|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CAGCAGCAGGGGCAGGTACAT	0.547000														6			31		0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51499413	51499413	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:51499413C>T	uc002puq.1	-	5	1006	c.820G>A	c.(820-822)Ggc>Agc	p.G274S	KLK8_uc002pur.1_Missense_Mutation_p.G229S|KLK8_uc002pus.1_Missense_Mutation_p.G88S|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Missense_Mutation_p.G229S|KLK8_uc002puv.1_Non-coding_Transcript	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	229					cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.G274A(1)|p.G274V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGGTCTGAGCCCCAGGATGTG	0.562000														67			42		0	0	1	0	0
TCEA1	6917	broad.mit.edu	37	8	54934667	54934667	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:54934667G>A	uc003xru.3	-	0	342	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	TCEA1_uc003xrv.3_Missense_Mutation_p.R7C|TCEA1_uc011ldw.2_Missense_Mutation_p.R7C|TCEA1_uc003xrw.1_Non-coding_Transcript	NM_006756	NP_006747	P23193	TCEA1_HUMAN	Homo sapiens transcription elongation factor A (SII), 1 (TCEA1), transcript variant 1, mRNA.	7	TFIIS N-terminal.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding	p.R6T(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			TTGGCAAAGCGGACCACTTCG	0.692000			T	PLAG1	salivary adenoma									83			28		0	0	1	0	0
DPP7	29952	broad.mit.edu	37	9	140006201	140006201	+	Silent	SNP	T	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:140006201T>G	uc004clh.3	-	10	1243	c.1213A>C	c.(1213-1215)Aga>Cga	p.R405R		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	405						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CTGGCGGCTCTGAGATCTGCA	0.632000														72			16		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342372	36342372	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:36342372C>T	uc002oby.3	-	1	417	c.261G>A	c.(259-261)ggG>ggA	p.G87G		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	87	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TAGCAGGGTCCCCTTCCAGGC	0.667000														15			9		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632959	169632959	+	Missense_Mutation	SNP	C	T	T	rs138283237	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:169632959C>T	uc011cjx.2	+	9	2060	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	PALLD_uc003iru.3_Missense_Mutation_p.R617C|PALLD_uc003irv.3_Missense_Mutation_p.R235C	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	617					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)		CCATCCCAGCCGTGGAGTAAA	0.512000									Pancreatic Cancer, Familial Clustering of					33			36		0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23401333	23401333	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:23401333C>T	uc003swg.3	-	3	579	c.313G>A	c.(313-315)Gga>Aga	p.G105R		NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	105	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCCACCACTCCATACTGGACT	0.373000														18			26		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110492257	110492257	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:110492257G>A	uc003yne.3	+	54	9320	c.9216G>A	c.(9214-9216)atG>atA	p.M3072I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3072	G8 2.				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)			TGCCATCAATGGAAAGACTCA	0.328000										HNSCC(38;0.096)				11			5		0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107444	45107444	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:45107444C>T	uc002zdk.3	+	12	1303	c.1189C>T	c.(1189-1191)Caa>Taa	p.Q397*	RRP1B_uc002zdl.3_5'UTR	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	397					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AAGCAGTCTTCAAAAGAGAAG	0.532000														51			32		0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15122737	15122737	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:15122737C>T	uc002dda.4	+	14	1431	c.1207C>T	c.(1207-1209)Ccg>Tcg	p.P403S	PDXDC1_uc010uzl.2_Missense_Mutation_p.P388S|PDXDC1_uc010uzm.2_Missense_Mutation_p.P312S|PDXDC1_uc002dcz.3_Missense_Mutation_p.P380S|PDXDC1_uc002ddb.4_Missense_Mutation_p.P376S|PDXDC1_uc010uzn.2_Missense_Mutation_p.P375S|PDXDC1_uc002ddc.3_Missense_Mutation_p.P403S	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	403					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGTGTCAGATCCGGTGTTTAA	0.537000														30			4		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907966	12907966	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:12907966C>T	uc010obf.2	-	1	403	c.177G>A	c.(175-177)aaG>aaA	p.K59K	LOC649330_uc009vno.2_Silent_p.K59K	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	59							nucleic acid binding|nucleotide binding										CATTTTTCTCCTTATCATATT	0.473000														129			66		0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57619023	57619023	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:57619023C>T	uc010srf.2	+	1	595	c.420C>T	c.(418-420)ttC>ttT	p.F140F	NXPH4_uc009zpj.3_5'UTR	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	140	III.				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GTGTGTATTTCCGCCACAACT	0.607000														30			34		0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28925686	28925686	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:28925686G>A	uc002drq.3	-	4	813	c.765C>T	c.(763-765)ggC>ggT	p.G255G	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Silent_p.G184G|RABEP2_uc010byn.3_Silent_p.G255G|RABEP2_uc002drr.3_Silent_p.G255G	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	255					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CAGGGCTCAGGCCCTGGCGGC	0.667000														29			19		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45795178	45795179	+	Missense_Mutation	DNP	TT	AA	AA			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:45795178_45795179TT>AA	uc003bgc.3	-	5	961_962	c.909_910AA>TT	c.(907-912)gaaaac>gaTTac	p.303_304EN>DY	SMC1B_uc003bgd.3_Missense_Mutation_p.303_304EN>DY|SMC1B_uc003bge.1_Missense_Mutation_p.86_87EN>DY	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	303					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGAGAAGTGTTTTCTTTGGCTT	0.337000														32			43		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39811063	39811063	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:39811063T>C	uc003axt.3	+	1	135	c.86T>C	c.(85-87)gTt>gCt	p.V29A	TAB1_uc003axr.3_Missense_Mutation_p.V105A|TAB1_uc011aok.2_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.V29A	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	29					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CTCTCTGGGGTTGGCTCAGCC	0.632000														27			19		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530384	125530384	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:125530384G>A	uc010flu.3	+	16	2906	c.2542G>A	c.(2542-2544)Gag>Aag	p.E848K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E847K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	847	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCTCCTTCAGAGATCACCTT	0.483000														24			15		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576865	7576865	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:7576865A>T	uc002gim.2	-	8	1175	c.981T>A	c.(979-981)taT>taA	p.Y327*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Nonsense_Mutation_p.Y327*|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Nonsense_Mutation_p.Y195*|TP53_uc010cnf.1_Nonsense_Mutation_p.Y195*|TP53_uc002gii.1_Nonsense_Mutation_p.Y195*|TP53_uc010cni.1_Nonsense_Mutation_p.Y327*|TP53_uc010cnh.1_Nonsense_Mutation_p.Y327*|TP53_uc002gij.2_Nonsense_Mutation_p.Y327*|DL476313_uc021tpe.1_Non-coding_Transcript|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	327	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Y -> H (in a sporadic cancer; somatic mutation).|Y -> S (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y327*(10)|p.0?(8)|p.E326*(4)|p.Y327fs*9(2)|p.Y327fs*1(2)|p.?(1)|p.Y327D(1)|p.E326K(1)|p.Y327fs*10(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)		GAAGGGTGAAATATTCTCCAT	0.443000		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)				4			45		0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113890349	113890349	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:113890349C>T	uc002tjb.3	+	3	499	c.435C>T	c.(433-435)ttC>ttT	p.F145F	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Silent_p.F148F|IL1RN_uc002tiy.3_Silent_p.F111F|IL1RN_uc002tja.3_Silent_p.F127F	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	145					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)	CCGGTTGGTTCCTCTGCACAG	0.577000									Lichen Sclerosis et Atrophicus, Familial Clustering of					71			33		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40709527	40709527	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:40709527A>T	uc002xkg.3	-	30	4502	c.4318T>A	c.(4318-4320)Tcc>Acc	p.S1440T	PTPRT_uc010ggj.3_Missense_Mutation_p.S1459T|PTPRT_uc010ggi.3_Missense_Mutation_p.S643T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1440					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)				AGCTAAAAGGAGCTTAAATAT	0.527000														54			36		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6472141	6472141	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:6472141G>A	uc001mdh.3	-	9	2247	c.1851C>T	c.(1849-1851)gcC>gcT	p.A617A	TRIM3_uc001mdi.3_Silent_p.A617A|TRIM3_uc010raj.2_Silent_p.A498A|TRIM3_uc009yfd.3_Silent_p.A617A|TRIM3_uc010rak.1_Silent_p.A617A	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	617					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCGGTCAGTGGCCCCACGGC	0.547000														21			32		0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115303764	115303764	+	Silent	SNP	G	A	A	rs138706948		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:115303764G>A	uc022cdd.1	+	0	231	c.231G>A	c.(229-231)aaG>aaA	p.K77K	AGTR2_uc004eqh.4_Silent_p.K77K	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	77					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	p.K76E(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						GTCCTAAAAAGGTTTCTAGCA	0.363000														5			58		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77407641	77407641	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:77407641T>C	uc004ajl.1	-	18	2675	c.2437A>G	c.(2437-2439)Aat>Gat	p.N813D	TRPM6_uc004ajk.1_Missense_Mutation_p.N808D|TRPM6_uc022bib.1_Missense_Mutation_p.N808D|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	813					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAATGCTGATTTTCATCCAGT	0.373000														5			32		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47406756	47406756	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:47406756G>A	uc002leb.2	-	22	3403	c.3115C>T	c.(3115-3117)Ctg>Ttg	p.L1039L	MYO5B_uc002lea.2_Silent_p.L180L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1039					protein transport	myosin complex	ATP binding|actin 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)		GACTGGCACAGGATTTGGTTG	0.433000														209			21		0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133733157	133733157	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:133733157T>A	uc009zzb.3	+	4	1772	c.1325T>A	c.(1324-1326)tTt>tAt	p.F442Y	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.F442Y	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GGAAAATGTTTTAGTCGAAGC	0.408000														58			16		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271750	59271750	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:59271750G>A	uc001noa.1	+	0	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGGGCAGGAGGAAAGCCATCT	0.562000														51			106		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017784	17017784	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:17017784G>A	uc002nfb.3	-	29	4178	c.4146C>T	c.(4144-4146)ctC>ctT	p.L1382L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1335						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCAGGCTACGGAGCTTGCGCA	0.642000														4			7		0	0	1	0	0
DHH	50846	broad.mit.edu	37	12	49488070	49488070	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:49488070C>T	uc001rtf.3	-	0	533	c.226G>A	c.(226-228)Gac>Aac	p.D76N		NM_021044	NP_066382	O43323	DHH_HUMAN	Homo sapiens desert hedgehog (DHH), mRNA.	76					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						GGCACGAGGTCCCGGAAGCGC	0.642000														50			18		0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307856	47307856	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:47307856G>A	uc004dhs.4	-	3	1506	c.1439C>T	c.(1438-1440)cCt>cTt	p.P480L	ZNF41_uc004dhu.4_Missense_Mutation_p.P472L|ZNF41_uc004dht.4_Missense_Mutation_p.P352L|ZNF41_uc004dhv.4_Missense_Mutation_p.P448L|ZNF41_uc004dhw.4_Missense_Mutation_p.P440L|ZNF41_uc004dhy.4_Missense_Mutation_p.P438L|ZNF41_uc004dhx.4_Missense_Mutation_p.P438L|ZNF41_uc011mlm.2_Missense_Mutation_p.P352L	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	480						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GCATACATAAGGTTTCTCTCC	0.443000														0			34		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924951	227924951	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:227924951C>T	uc021vxr.1	-	25	2166	c.2065G>A	c.(2065-2067)Gga>Aga	p.G689R	COL4A4_uc021vxs.1_Missense_Mutation_p.G689R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	689	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)		CCTGGAAATCCCTTCGGACCT	0.438000														29			13		0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42885826	42885826	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:42885826T>G	uc010zwl.2	+	1	281	c.214T>G	c.(214-216)Tgc>Ggc	p.C72G	GDAP1L1_uc002xlp.1_Missense_Mutation_p.C72G|GDAP1L1_uc002xlq.3_Missense_Mutation_p.C72G|GDAP1L1_uc010zwm.2_Missense_Mutation_p.C72G|GDAP1L1_uc010zwn.2_Intron	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA.	72	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGGCCTGGTGTGCGAGGAGCG	0.697000														11			5		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77104307	77104307	+	Nonsense_Mutation	SNP	C	T	T	rs147932692		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:77104307C>T	uc002lmx.3	+	20	2439	c.2425C>T	c.(2425-2427)Cga>Tga	p.R809*	ATP9B_uc002lmw.1_Nonsense_Mutation_p.R809*|ATP9B_uc002lmz.1_Nonsense_Mutation_p.R503*|ATP9B_uc002lna.3_5'UTR|ATP9B_uc002lnb.1_5'Flank	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	809					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|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)		GAATGCATTTCGAAGGAAGCA	0.473000														41			6		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60986024	60986024	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:60986024C>T	uc002ycw.2	-	13	2102	c.1905G>A	c.(1903-1905)agG>agA	p.R635R		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	635										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			CTGTCAGTTTCCTTCTCCCTC	0.637000														128			74		0	0	1	0	0
MESDC2	23184	broad.mit.edu	37	15	81271602	81271602	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:81271602G>A	uc002bfy.1	-	2	736	c.663C>T	c.(661-663)tcC>tcT	p.S221S	MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.	221					Wnt receptor signaling pathway|mesoderm development|protein folding	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TTTCTTCCTTGGAAGACCGAG	0.498000														49			24		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60913306	60913306	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:60913306G>A	uc002ycq.3	-	12	1805	c.1738C>T	c.(1738-1740)Cac>Tac	p.H580Y	LAMA5_uc021wfw.1_Missense_Mutation_p.H580Y	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	580	Laminin EGF-like 5.				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)	AGAGGGAAGTGAAAGTAGCCG	0.667000														12			9		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83218370	83218370	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:83218370A>T	uc002bit.3	-	8	1571	c.1434T>A	c.(1432-1434)ttT>ttA	p.F478L	CPEB1_uc002bir.3_Missense_Mutation_p.F343L|CPEB1_uc002bis.3_Missense_Mutation_p.F338L|CPEB1_uc010uod.2_Missense_Mutation_p.F187L|CPEB1_uc002biq.3_Missense_Mutation_p.F338L|CPEB1_uc010uoe.2_Missense_Mutation_p.F416L|CPEB1_uc002biu.3_Missense_Mutation_p.F440L|CPEB1_uc010uof.2_Missense_Mutation_p.F338L|CPEB1_uc002biv.3_Missense_Mutation_p.F413L|CPEB1_uc002bip.3_Missense_Mutation_p.F187L	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	418	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGCTCCGGACAAAGTTACTGT	0.562000														38			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235907	140235907	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140235907G>A	uc003lhx.2	+	0	274	c.274G>A	c.(274-276)Gag>Aag	p.E92K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.E92K|PCDHAC2_uc011dad.2_Missense_Mutation_p.E92K	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	108	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTGACCGCGAGGAGCTGTG	0.577000														516			83		0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373002	5373002	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:5373002G>A	uc010qzb.2	+	0	265	c.265G>A	c.(265-267)Gag>Aag	p.E89K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R88K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATCACAGGGAGATTGGCCA	0.478000														20			43		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28826894	28826894	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:28826894G>A	uc002rmb.2	+	39	2880	c.2836G>A	c.(2836-2838)Gcc>Acc	p.A946T	PLB1_uc010ezj.2_Missense_Mutation_p.A935T|PLB1_uc002rme.2_Intron	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	946	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			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)					CAGGCTGGAGGCCTTCAGCCG	0.607000														27			21		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130764977	130764977	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:130764977T>C	uc003ysr.3	-	6	1693	c.811A>G	c.(811-813)Aat>Gat	p.N271D		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	271						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						gatgaggcattgaagagggtt	0.408000														96			14		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870613	69870613	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:69870613C>T	uc011cao.1	-	7	1542	c.1416G>A	c.(1414-1416)tgG>tgA	p.W472*	UGT2B10_uc011can.1_Nonsense_Mutation_p.W388*			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	516					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G471E(1)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TAGCGAACTTCCAGAAACAAA	0.418000														46			18		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11145668	11145668	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:11145668C>T	uc010dxp.3	+	29	4390	c.4030C>T	c.(4030-4032)Ccc>Tcc	p.P1344S	SMARCA4_uc010dxo.3_Missense_Mutation_p.P1344S|SMARCA4_uc002mqf.4_Missense_Mutation_p.P1344S|SMARCA4_uc010dxq.3_Missense_Mutation_p.P1311S|SMARCA4_uc010dxr.3_Missense_Mutation_p.P1311S|SMARCA4_uc002mqj.4_Missense_Mutation_p.P1311S|SMARCA4_uc010dxs.3_Missense_Mutation_p.P1311S|SMARCA4_uc010dxt.1_Missense_Mutation_p.P531S|SMARCA4_uc002mqh.4_Missense_Mutation_p.P434S|SMARCA4_uc002mqi.1_Missense_Mutation_p.P514S	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1344					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|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	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|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)				GGACGAGCTCCCCTCGTGGAT	0.687000			"""F, N, Mis"""		NSCLC									15			10		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683174	140683174	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140683174A>G	uc003ljf.3	-	0	439	c.259T>C	c.(259-261)Ttc>Ctc	p.F87L		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	87					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGCTGGCAGAACCCGTAGCAC	0.592000														43			191		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124399018	124399018	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:124399018G>A	uc001uft.4	+	59	10166	c.10141G>A	c.(10141-10143)Gac>Aac	p.D3381N		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3381					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGGCAAAATGACATCCTGGA	0.602000														31			6		0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97339513	97339513	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:97339513C>T	uc001tew.3	+	12	1864	c.1718C>T	c.(1717-1719)tCa>tTa	p.S573L	NEDD1_uc001teu.4_Missense_Mutation_p.S566L|NEDD1_uc001tev.4_Missense_Mutation_p.S566L|NEDD1_uc010svc.2_Missense_Mutation_p.S477L|NEDD1_uc001tex.3_Missense_Mutation_p.S477L	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	566					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol		p.D573N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GTTGCCAGTTCACTCTCAGAA	0.368000														4			14		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4944606	4944606	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:4944606C>T	uc002cyd.1	-	11	1346	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	419					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						GCTGTAGCCCCGCGAGATCAG	0.647000														50			11		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77614213	77614213	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:77614213G>A	uc011bgk.2	+	12	2446	c.1803G>A	c.(1801-1803)gcG>gcA	p.A601A	ROBO2_uc021xat.1_Silent_p.A613A|ROBO2_uc003dpy.4_Silent_p.A597A|ROBO2_uc003dpz.3_Silent_p.A601A|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	597	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGTCAGAGCGATCAACCCCC	0.498000														28			48		0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24587348	24587348	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:24587348C>T	uc001wlv.3	+	5	841	c.561C>T	c.(559-561)ttC>ttT	p.F187F	DCAF11_uc001wlw.3_Silent_p.F187F|DCAF11_uc001wlz.3_Silent_p.F87F|DCAF11_uc001wly.3_Silent_p.F143F|DCAF11_uc010tny.2_Silent_p.F54F|DCAF11_uc001wmc.3_Silent_p.F87F|DCAF11_uc001wmb.4_Silent_p.F161F|DCAF11_uc001wma.4_Silent_p.F187F	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	187						CUL4 RING ubiquitin ligase complex	protein binding										GTCAAATATTCATGTCTGCTT	0.493000														41			54		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25062747	25062747	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:25062747G>A	uc010ykm.2	-	5	1549	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	ADCY3_uc002rfr.4_Silent_p.I61I|ADCY3_uc002rfs.4_Silent_p.I450I	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	450					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CTCACCCAGGGATGCCGCCGG	0.672000														59			61		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131848633	131848633	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:131848633G>A	uc003ytd.4	-	11	2821	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	ADCY8_uc010mds.3_Silent_p.S724S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	855					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)			GCTTCAGGACGGAGTTCAGCC	0.537000										HNSCC(32;0.087)				95			44		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10907864	10907864	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:10907864G>A	uc003mzo.3	+	9	1062	c.766G>A	c.(766-768)Gat>Aat	p.D256N	SYCP2L_uc011din.1_Missense_Mutation_p.D97N|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	256						nucleus		p.D256E(1)		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)			ATGGTTTGATGATGAAGTCAT	0.363000														51			43		0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42883111	42883111	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:42883111G>A	uc002ihj.3	-	1	586	c.75C>T	c.(73-75)ctC>ctT	p.L25L	GJC1_uc002ihk.3_Silent_p.L25L|GJC1_uc002ihl.3_Silent_p.L25L|GJC1_uc021tyf.1_Silent_p.L25L	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	25					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TCAGAACAGTGAGCCAGATCT	0.473000														6			24		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48035030	48035030	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:48035030A>C	uc003gxw.3	+	3	457	c.391A>C	c.(391-393)Aat>Cat	p.N131H		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	131						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						AGAGGCTGCAAATTTTGCTGC	0.448000														23			12		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21752163	21752163	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:21752163G>A	uc010iuc.2	-	11	2526	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	CDH12_uc011cno.1_Missense_Mutation_p.R650C|CDH12_uc003jgk.2_Missense_Mutation_p.R690C|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	690					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R690H(1)		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						ATATCCCTGCGAATTTTGTTC	0.463000										HNSCC(59;0.17)				73			29		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7310180	7310180	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:7310180C>T	uc001qss.3	+	15	3197	c.2659C>T	c.(2659-2661)Cgc>Tgc	p.R887C	CLSTN3_uc001qsr.3_Missense_Mutation_p.R875C|CLSTN3_uc001qst.3_Missense_Mutation_p.R283C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	875					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum 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						TTCCCTTCACCGCCGCGTCTC	0.637000														12			4		0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023733	31023733	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:31023733G>T	uc021wbw.1	+	12	3650	c.3218G>T	c.(3217-3219)cGc>cTc	p.R1073L	ASXL1_uc002wxs.3_Missense_Mutation_p.R1072L|ASXL1_uc010geb.3_Missense_Mutation_p.R964L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1073					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		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						TGTGCGGTCCGCCAAAAGATC	0.572000			"""F, N, Mis"""		"""MDS, CMML"""									92			104		4.05343e-56	4.12017e-56	1	1	0
PTPRE	5791	broad.mit.edu	37	10	129875949	129875949	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:129875949C>T	uc009yat.3	+	19	2244	c.1827C>T	c.(1825-1827)atC>atT	p.I609I	PTPRE_uc001lkb.3_Silent_p.I598I|PTPRE_uc009yau.2_Silent_p.I598I|PTPRE_uc001lkd.3_Silent_p.I540I|PTPRE_uc010quq.1_Silent_p.I499I	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	598	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGCCTGAGATCGGGATTCCCG	0.652000														2			16		0	0	1	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423259	142423259	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:142423259G>A	uc010lol.1	+	0	77	c.44G>A	c.(43-45)gGa>gAa	p.G15E	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_5'Flank|TCRBV14S1_uc022ant.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TGCCTTCTAGGAGCAGGTGAG	0.537000														19			19		0	0	1	0	0
RNASE13	440163	broad.mit.edu	37	14	21502011	21502011	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:21502011G>A	uc021rot.1	-	0	437	c.437C>T	c.(436-438)cCa>cTa	p.P146L	NDRG2_uc010tll.2_Intron|RNASE13_uc001vzj.3_Missense_Mutation_p.P146L	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	Homo sapiens ribonuclease, RNase A family, 13 (non-active) (RNASE13), mRNA.	146						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GATACCTATTGGATCAGCTTC	0.517000														58			82		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124757395	124757395	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:124757395C>T	uc001qbg.3	-	14	2197	c.2057_splice	c.e14-1	p.G686_splice	ROBO4_uc010sas.2_Splice_Site_p.G541_splice|ROBO4_uc001qbh.2_Splice_Site_p.G576_splice|ROBO4_uc001qbi.3_Splice_Site_p.G244_splice	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	686					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGCACAGCTCCTGGGGAAGA	0.632000														33			14		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45452041	45452041	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:45452041A>G	uc002iln.3	+	11	1512	c.1081A>G	c.(1081-1083)Aaa>Gaa	p.K361E	C17orf57_uc002ilm.3_Missense_Mutation_p.K265E|C17orf57_uc002ill.1_Missense_Mutation_p.K117E|C17orf57_uc010daz.1_Missense_Mutation_p.K313E	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	361							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						TAAAAGACCAAAAAATACTTG	0.323000														6			24		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479668	4479668	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:4479668C>T	uc001qmq.1	-	2	743	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	199					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	p.R198W(1)|p.R198Q(1)		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)			GGGCCGGGGTCATCCGGGCCC	0.682000														22			9		0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33740224	33740224	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:33740224G>A	uc002rox.3	+	3	648	c.21G>A	c.(19-21)ggG>ggA	p.G7G	RASGRP3_uc010ync.2_Silent_p.G7G|RASGRP3_uc002roy.3_Silent_p.G7G	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	7	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GTGGCCTTGGGAAAGCAGCAA	0.428000														71			54		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119029362	119029362	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:119029362C>T	uc001pvs.3	+	10	1599	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	ABCG4_uc009zar.3_Silent_p.F421F	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	421	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCAAGGTCTTCAACAACACCG	0.587000														108			28		0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239370	21239370	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:21239370C>T	uc010mis.3	-	0	609	c.565G>A	c.(565-567)Gat>Aat	p.D189N	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	189					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGTTTTCAATCCTTCCTCCTT	0.388000														25			148		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20651903	20651903	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:20651903G>A	uc002dhm.1	-	6	1064	c.996C>T	c.(994-996)atC>atT	p.I332I	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.I332I	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	332					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding	p.I332V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CAGGGAACCTGATGCTTAGAG	0.552000														31			32		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51293309	51293309	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:51293309C>T	uc001zyx.2	+	19	3289	c.3182C>T	c.(3181-3183)tCt>tTt	p.S1061F	AP4E1_uc021skz.1_Missense_Mutation_p.S986F|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	1061					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ATGTCAGAATCTCAAGCTGCA	0.338000														52			29		0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14707812	14707812	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:14707812G>A	uc010dzn.2	+	8	647	c.570G>A	c.(568-570)gtG>gtA	p.V190V	CLEC17A_uc010dzo.2_Silent_p.V190V|CLEC17A_uc002mzh.2_Silent_p.V173V|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Silent_p.V190V	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	190						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GTCTCACTGTGACCCTGATTA	0.567000														6			7		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14852054	14852054	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:14852054G>A	uc010dlo.2	+	35	3934	c.3754G>A	c.(3754-3756)Gat>Aat	p.D1252N	ANKRD30B_uc021uhy.1_Missense_Mutation_p.D1252N|ANKRD30B_uc010xal.1_Missense_Mutation_p.D394N	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1337										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TTATGCAGGAGATGATCTAAG	0.353000														17			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089999	9089999	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9089999G>A	uc002mkp.3	-	0	2020	c.1816C>T	c.(1816-1818)Ccc>Tcc	p.P606S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	606	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V605F(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						ATCCCAGTGGGAACAGCAAAC	0.542000														24			21		0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29675913	29675913	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:29675913C>T	uc021tgd.1	+	0	864	c.864C>T	c.(862-864)ctC>ctT	p.L288L	BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Silent_p.L288L|SPN_uc002dtn.3_Silent_p.L288L	NM_003123	NP_003114	P16150	LEUK_HUMAN	Homo sapiens sialophorin (SPN), transcript variant 2, mRNA.	288					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CTGGGGCCCTCGTGCTGAGCA	0.706000														5			5		0	0	1	0	0
NDRG3	57446	broad.mit.edu	37	20	35317155	35317155	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:35317155G>A	uc002xfw.3	-	3	268	c.126C>T	c.(124-126)gtC>gtT	p.V42V	NDRG3_uc002xfx.3_Silent_p.V30V|NDRG3_uc010zvq.2_Intron|NDRG3_uc010zvr.2_Intron	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	42					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TAGTGACGTGGACCACACCAT	0.388000														77			52		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520597	33520597	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:33520597G>A	uc002hjd.2	-	0	816	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	244						integral to membrane											GGCAACACGGGGGCCTGCAGC	0.622000														13			82		0	0	1	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681461	125681461	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:125681461G>A	uc004bnk.3	-	1	827	c.753C>T	c.(751-753)atC>atT	p.I251I	ZBTB26_uc004bnj.3_Silent_p.I251I|ZBTB26_uc022bnc.1_Silent_p.I251I	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TTGAGGCCATGATGATGTTAT	0.433000														12			89		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41019008	41019008	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:41019008C>T	uc003jmj.4	-	24	3044	c.2554G>A	c.(2554-2556)Gac>Aac	p.D852N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D407N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	852							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TTGTCCTTGTCTGTCTGGCCT	0.502000														40			16		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49850122	49850122	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:49850122C>T	uc003cxr.3	-	4	688	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	173	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTTCTGCCTCTGTGGGGTCC	0.572000														15			22		0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	99030457	99030457	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:99030457C>T	uc003htt.2	-	4	478	c.388_splice	c.e4-1	p.D130_splice		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	130										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		TGGAAACATCCTAAAAAATAA	0.328000														25			6		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23319624	23319624	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:23319624G>A	uc001irm.4	+	16	2228	c.2145G>A	c.(2143-2145)tgG>tgA	p.W715*	ARMC3_uc010qcv.2_Nonsense_Mutation_p.W708*|ARMC3_uc010qcw.2_Nonsense_Mutation_p.W452*	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	715							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACAAAGAATGGTGTCCTCCCT	0.403000														5			31		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54866919	54866919	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:54866919G>A	uc002qfk.1	-	9	1132	c.822C>T	c.(820-822)ccC>ccT	p.P274P	LAIR1_uc002qfl.1_Silent_p.P257P|LAIR1_uc002qfm.1_Silent_p.P273P|LAIR1_uc002qfn.1_Silent_p.P256P|LAIR1_uc010yex.2_Silent_p.P267P|LAIR1_uc002qfo.3_Silent_p.P256P	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	274						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACTCGGCCATGGGCTTTGTGG	0.607000														59			61		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2591227	2591227	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:2591227G>A	uc002wgf.1	+	11	1591	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	TMC2_uc002wgg.1_Missense_Mutation_p.D510N|TMC2_uc010zpw.1_Missense_Mutation_p.D358N|TMC2_uc010zpx.1_Missense_Mutation_p.D357N	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	526						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGCCCTGATGGATGACGTCCA	0.468000														34			12		0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30762175	30762176	+	Missense_Mutation	DNP	TC	GA	GA			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:30762175_30762176TC>GA	uc011aku.2	+	2	846_847	c.186_187TC>GA	c.(184-189)gttccg>gtGAcg	p.P63T	CCDC157_uc011akv.2_Missense_Mutation_p.P63T	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	63										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ATGACCATGTTCCGGGTGACCC	0.639000														140			25		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381564	81381564	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:81381564C>T	uc003uhl.3	-	4	662	c.497G>A	c.(496-498)aGc>aAc	p.S166N	HGF_uc003uhm.3_Splice_Site_p.S161_splice|HGF_uc003uhn.1_Missense_Mutation_p.S166N|HGF_uc003uho.1_Splice_Site_p.S161_splice|HGF_uc003uhp.3_Missense_Mutation_p.S166N	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	166	Kringle 1.				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.S166I(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						ACCCCGATAGCTCGAAGGCAA	0.393000														46			16		0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28844396	28844396	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:28844396C>T	uc002dqy.3	+	13	1843	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.S535F|ATXN2L_uc002dqz.3_Missense_Mutation_p.S559F|ATXN2L_uc002dra.3_Missense_Mutation_p.S559F|ATXN2L_uc002drb.3_Missense_Mutation_p.S559F|ATXN2L_uc002drc.3_Missense_Mutation_p.S559F|ATXN2L_uc010vdb.2_Missense_Mutation_p.S565F|ATXN2L_uc002dre.3_Missense_Mutation_p.S559F|ATXN2L_uc002drf.3_5'UTR|ATXN2L_uc002drg.3_5'Flank	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	559						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCAGTAGCTCCCCTGAGAAC	0.502000														109			62		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470894	79470894	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:79470894G>A	uc001diq.4	-	1	189	c.33C>T	c.(31-33)tcC>tcT	p.S11S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	11					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.S11F(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCAACAAAGTGGAAAAAACCA	0.318000														4			31		0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78919109	78919109	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:78919109G>A	uc010jae.1	+	4	680	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	PAPD4_uc003kgb.2_Missense_Mutation_p.G88S|PAPD4_uc010jaf.1_Missense_Mutation_p.G88S|PAPD4_uc003kga.2_Missense_Mutation_p.G88S|PAPD4_uc003kfz.2_Missense_Mutation_p.G88S	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	88					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	p.G88N(2)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TCCTCTTGACGGTAAACGGCA	0.373000														91			21		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113306308	113306309	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:113306308_113306309AG>CA	uc010syl.2	+	7	880_881	c.518_519AG>CA	c.(517-519)aag>aCA	p.K173T	RPH3A_uc001ttz.3_Missense_Mutation_p.K173T|RPH3A_uc001tty.3_Missense_Mutation_p.K169T|RPH3A_uc009zwe.1_Missense_Mutation_p.K169T|RPH3A_uc010sym.2_Missense_Mutation_p.K124T|RPH3A_uc001tua.3_5'UTR	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	173	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ATGCCTATAAAGAAGACCAAGC	0.594000														18			13		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22700094	22700094	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:22700094G>A	uc001iri.3	+	9	1616	c.1449G>A	c.(1447-1449)gaG>gaA	p.E483E	SPAG6_uc010qct.2_Silent_p.E458E|SPAG6_uc009xkh.3_Silent_p.E461E|SPAG6_uc001irj.3_Intron|SPAG6_uc021poe.1_Silent_p.E209E	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	483					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	p.P482P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GTTACCCCGAGGAAATAGTGA	0.358000														3			17		0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101315308	101315308	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:101315308G>A	uc001vot.3	-	4	775	c.462C>T	c.(460-462)taC>taT	p.Y154Y	TMTC4_uc001vou.3_Silent_p.Y135Y|TMTC4_uc010tja.2_Intron	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	135						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTTACTGGTGTACTGCAGGC	0.617000														200			50		0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22057033	22057033	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:22057033C>T	uc002kvi.3	+	2	780	c.680C>T	c.(679-681)tCa>tTa	p.S227L	HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Missense_Mutation_p.S139L	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	227						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TGTGGACACTCATTCAGAGGT	0.453000														33			87		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62132152	62132152	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:62132152G>A	uc002jdz.2	-	13	1822	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	570					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGGACAGAAGGAAATTTTCCC	0.488000														0			10		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638995	55638995	+	Silent	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:55638995T>C	uc003pcq.3	-	3	1591	c.879A>G	c.(877-879)ggA>ggG	p.G293G	BMP5_uc011dxf.2_Silent_p.G293G	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	293					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGACTGAGGTCCCTGTCTTC	0.433000														62			40		0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651823	128651823	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:128651823C>T	uc003ifl.3	+	0	269	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	41					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TGGCGCCCATCGAGCGGGTGA	0.642000														36			33		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980432	121980432	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:121980432C>T	uc003eew.4	+	3	988	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F	CASR_uc003eev.4_Missense_Mutation_p.L184F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	184					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	p.F183Y(1)		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)	CAAGTCTTTCCTCCGAACCAT	0.507000														114			30		0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159462430	159462430	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:159462430C>T	uc003qrz.3	-	5	765	c.433G>A	c.(433-435)Gat>Aat	p.D145N	TAGAP_uc011eft.2_Missense_Mutation_p.D82N|TAGAP_uc003qsa.3_5'UTR|TAGAP_uc003qsb.3_Missense_Mutation_p.D145N	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	145	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCTCCAGATCCACCGCATCC	0.552000														21			17		0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28459718	28459718	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:28459718C>T	uc001riq.3	+	3	325	c.311C>T	c.(310-312)cCa>cTa	p.P104L	CCDC91_uc001rio.3_Missense_Mutation_p.P74L|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.P104L|CCDC91_uc009zjl.3_5'UTR	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	104					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TCACTTTTTCCATTGGGTTTA	0.348000														33			12		0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100169977	100169977	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:100169977G>A	uc004egn.2	-	2	1305	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	XKRX_uc011mre.1_Missense_Mutation_p.R30C	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	234						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GGCCCAAGGCGAATCTTGTAG	0.483000														6			53		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203083	56203083	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:56203083C>T	uc002lhj.4	-	4	4550	c.4336G>A	c.(4336-4338)Gaa>Aaa	p.E1446K	ALPK2_uc002lhk.1_Missense_Mutation_p.E777K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1446							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						GGCTGGATTTCCGCTTCGTGG	0.527000														21			51		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22471696	22471696	+	Nonsense_Mutation	SNP	T	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:22471696T>G	uc001wct.4	+	1	224	c.119T>G	c.(118-120)tTa>tGa	p.L40*	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 19, partial cds, clone: SEB 336.																		GCTCTGACATTAAACTGCACT	0.443000														18			28		0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67226103	67226104	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:67226103_67226104GT>AG	uc001olo.3	+	5	878_879	c.801_802GT>AG	c.(799-804)gagttt>gaAGtt	p.F268V	CABP4_uc001oln.3_Missense_Mutation_p.F163V	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	268	EF-hand 4.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	p.E267K(1)		central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTCCCGCAGAGTTTGTGATGAT	0.653000														16			33		0	0	1	0	0
LOC200726	200726	broad.mit.edu	37	2	207509337	207509337	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:207509337C>T	uc010fuh.1	+	1	552	c.377C>T	c.(376-378)tCa>tTa	p.S126L		NM_001102659	NP_001096129			Homo sapiens hCG1657980 (LOC200726), mRNA.																LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		GAGAAAATCTCAGCAGCGCAG	0.488000														6			7		0	0	1	0	0
ATP5EP2	432369	broad.mit.edu	37	13	28519450	28519450	+	RNA	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:28519450C>T	uc001uru.3	+	0		c.108C>T								Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 (ATP5EP2), transcript variant 6, non-coding RNA.											ovary(1)	1						ACTCCCAGATCTGTGCAAAAG	0.483000														7			9		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621392	41621392	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:41621392G>A	uc003gvz.4	+	5	810	c.393G>A	c.(391-393)gaG>gaA	p.E131E	LIMCH1_uc003gvt.1_Silent_p.E131E|LIMCH1_uc003gwe.4_Silent_p.E290E|LIMCH1_uc003gvu.4_Silent_p.E290E|LIMCH1_uc003gvv.4_Silent_p.E290E|LIMCH1_uc003gvw.4_Silent_p.E290E|LIMCH1_uc003gvx.4_Silent_p.E290E|LIMCH1_uc003gvy.4_Silent_p.E131E|LIMCH1_uc003gwa.4_Silent_p.E131E|LIMCH1_uc011byu.2_Silent_p.E136E|LIMCH1_uc003gwc.4_Silent_p.E136E|LIMCH1_uc003gwd.4_Silent_p.E136E|LIMCH1_uc011byv.2_Silent_p.E41E|LIMCH1_uc003gwb.1_Silent_p.E138E	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	290					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGAAAGCAGAGAGAGAGGAAT	0.582000														48			30		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41172415	41172415	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:41172415C>T	uc003jmk.2	-	8	1413	c.1203G>A	c.(1201-1203)agG>agA	p.R401R	C6_uc003jml.1_Silent_p.R401R	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	401	MACPF.				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)				TTGTTTCAATCCTGACACAGT	0.408000														37			41		0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168282086	168282086	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:168282086A>G	uc001gfl.3	+	7	1244	c.1193A>G	c.(1192-1194)cAa>cGa	p.Q398R	TBX19_uc001gfj.4_Missense_Mutation_p.Q266R|TBX19_uc001gfm.3_Missense_Mutation_p.Q101R	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	398					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CTCTCCACCCAAGCACCCACT	0.657000														8			67		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085237	9085237	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9085237G>A	uc002mkp.3	-	0	6782	c.6578C>T	c.(6577-6579)tCc>tTc	p.S2193F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2193	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						CATTCTAAAGGAAACCAAAGA	0.468000														14			16		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372986	24372986	+	Silent	SNP	C	T	T	rs148951012		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:24372986C>T	uc002dmf.3	+	3	1952	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	250					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)		TGTCCCCCATCAGCAAAGGCT	0.587000														33			49		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769748	112769748	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:112769748G>A	uc003kqm.2	-	0	981	c.789C>T	c.(787-789)atC>atT	p.I263I	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	263	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)		GGATCTCGTCGATGTGGAGCC	0.622000														79			14		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51910917	51910917	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:51910917G>A	uc003pah.1	-	23	2753	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	PKHD1_uc003pai.3_Missense_Mutation_p.S826F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	826					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)					GAGGTACCTGGATGTGAAGTC	0.458000														81			49		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65392291	65392291	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:65392291G>A	uc011moz.2	+	2	561	c.424G>A	c.(424-426)Gat>Aat	p.D142N	HEPH_uc004dwn.3_Missense_Mutation_p.D91N|HEPH_uc004dwo.3_5'UTR|HEPH_uc010nkr.3_Missense_Mutation_p.D91N|HEPH_uc011mpa.2_Missense_Mutation_p.D91N	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	88	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.P142>?(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCATACACAGATGAAGTGGC	0.498000														2			14		0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36465643	36465643	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:36465643C>T	uc003tff.3	+	18	2972	c.2768C>T	c.(2767-2769)tCa>tTa	p.S923L	ANLN_uc011kaz.2_Missense_Mutation_p.S835L|ANLN_uc003tfg.3_Missense_Mutation_p.S886L|ANLN_uc010kxe.3_Missense_Mutation_p.S885L	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	923	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ATTCATTCTTCAGGTGAGTGT	0.269000														16			9		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91715573	91715573	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:91715573T>C	uc003ulg.3	+	36	9281	c.9056T>C	c.(9055-9057)tTc>tCc	p.F3019S	AKAP9_uc003ulf.3_Missense_Mutation_p.F3011S|AKAP9_uc003uli.3_Missense_Mutation_p.F2642S|AKAP9_uc003ulj.3_Missense_Mutation_p.F789S|AKAP9_uc003ulk.3_Missense_Mutation_p.F294S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3023					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	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)			CATGAGAGCTTCTCAGACTGG	0.368000			T	BRAF	papillary thyroid									88			60		0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1682273	1682273	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:1682273A>G	uc010uvh.2	+	2	601	c.601A>G	c.(601-603)Aag>Gag	p.K201E	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	201	SANT.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GAAGAAAGGCAAGCCAGCAAG	0.448000														3			3		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30924625	30924625	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:30924625C>T	uc003xio.4	+	5	1369	c.581C>T	c.(580-582)tCt>tTt	p.S194F		NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	194	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			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)		AAAGACAAGTCTATCCGCTGT	0.413000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					22			13		0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22318312	22318312	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:22318312G>C	uc002zvs.3	-	10	1622	c.1187C>G	c.(1186-1188)gCc>gGc	p.A396G	TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Missense_Mutation_p.A396G|TOP3B_uc010gtl.3_Missense_Mutation_p.A396G	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	396					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GGCCTCTGTGGCAGACTTCAT	0.612000														110			7		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204576	9204576	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9204576C>T	uc010xkj.2	+	0	656	c.656C>T	c.(655-657)gCt>gTt	p.A219V		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCTCCTATGCTCGCATCCTT	0.557000														65			43		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176631248	176631248	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:176631248C>T	uc003mfr.4	+	3	1329	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	NSD1_uc003mft.4_Silent_p.V128V|NSD1_uc003mfs.1_Intron|NSD1_uc011dfx.2_Silent_p.V45V|NSD1_uc003mfp.2_Silent_p.V397V	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	397					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)		AGCTACCTGTCCTTAGGAGAA	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				102			28		0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42992842	42992842	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:42992842C>T	uc003otp.1	+	1	258	c.250C>T	c.(250-252)Caa>Taa	p.Q84*		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	84					rRNA processing|ribosomal small subunit biogenesis	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						ACCACCTATCCAAAATGCATG	0.453000														40			21		0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96781866	96781866	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:96781866G>A	uc021vlh.1	-	0	23	c.23C>T	c.(22-24)tCc>tTc	p.S8F		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	8					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCCTGCACGGAGTAGGGGTC	0.672000														11			5		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54385799	54385799	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:54385799C>T	uc002qcq.1	+	0	333	c.51C>T	c.(49-51)ccC>ccT	p.P17P	PRKCG_uc010eqz.1_Silent_p.P17P|PRKCG_uc010yef.1_Silent_p.P17P|PRKCG_uc010yeg.1_Silent_p.P17P|PRKCG_uc010yeh.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	17					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GACCCCGGCCCCTGTTTTGCA	0.627000														68			66		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	665887	665887	+	Silent	SNP	C	T	T	rs139340276	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:665887C>T	uc001qii.1	+	14	2235	c.2235C>T	c.(2233-2235)gtC>gtT	p.V745V	B4GALNT3_uc001qik.1_Silent_p.V294V	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	745						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGGAGGAGGTCGAGGCCCGGA	0.637000														5			7		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212251872	212251872	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:212251872G>A	uc002veg.1	-	26	3285	c.3187C>T	c.(3187-3189)Cag>Tag	p.Q1063*	ERBB4_uc002veh.1_Nonsense_Mutation_p.Q1047*|ERBB4_uc010zji.1_Nonsense_Mutation_p.Q1053*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.Q1037*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1063					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)		TATACAAACTGGTTCTGTTAA	0.428000										TSP Lung(8;0.080)				71			23		0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231774939	231774939	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:231774939A>G	uc021vxz.1	-	0	739	c.739T>C	c.(739-741)Ttc>Ctc	p.F247L	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.F247L|GPR55_uc010fxs.1_Missense_Mutation_p.F247L	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	247					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AACTGCAGGAAGAACCCCAGG	0.542000														54			15		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40424009	40424010	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:40424009_40424010CC>TT	uc002omp.4	-	3	2201_2202	c.2193_2194GG>AA	c.(2191-2196)tcggtt>tcAAtt	p.V732I		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	732			V -> A (in dbSNP:rs34181317).			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)			CAGTCCCCAACCGAGATGCCAA	0.614000														34			26		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279277	16279277	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:16279277C>T	uc010gqp.2	-	3	998	c.946G>A	c.(946-948)Ggt>Agt	p.G316S	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.G35S|POTEH_uc002zlj.1_Missense_Mutation_p.G151S	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	316										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCATGTACACCAAGTAACAGT	0.318000														202			43		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112031527	112031527	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:112031527G>A	uc001ebf.3	-	2	1344	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	ADORA3_uc001ebg.4_Missense_Mutation_p.R112C	NM_020683	NP_065734	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA.	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)	CAGTAGTCACGGAAATAGCCT	0.517000														1			67		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786854	121786854	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:121786854C>T	uc003ksw.1	+	9	2518	c.2312C>T	c.(2311-2313)cCa>cTa	p.P771L	SNCAIP_uc011cwl.1_Missense_Mutation_p.P329L|SNCAIP_uc003ksy.1_Missense_Mutation_p.P405L|SNCAIP_uc003ksx.1_Missense_Mutation_p.P818L|SNCAIP_uc003ksz.1_Missense_Mutation_p.P405L|SNCAIP_uc010jcu.2_Missense_Mutation_p.P367L|SNCAIP_uc011cwm.1_Missense_Mutation_p.P405L|SNCAIP_uc003kta.1_Missense_Mutation_p.P403L|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P465L|SNCAIP_uc010jcx.1_Missense_Mutation_p.P711L|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P287L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	771					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)		AGTATTCCTCCAAACCAGCCC	0.572000														3			16		0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792954	44792954	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:44792954G>A	uc002oza.4	-	4	737	c.634C>T	c.(634-636)Cca>Tca	p.P212S	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.P208S	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TCAACATATGGAGCAAATATA	0.323000														25			28		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54905644	54905644	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:54905644G>A	uc003dhf.3	+	17	1753	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.D475N|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.D303N	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	569						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGACCGAGATGACGTGGTAAG	0.507000														47			12		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515514	51515514	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:51515514A>C	uc010ric.2	+	0	233	c.233A>C	c.(232-234)aAc>aCc	p.N78T		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AATACCCCTAACCTGATCACA	0.493000														113			34		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376021	2376021	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:2376021G>A	uc002cpy.1	-	4	1021	c.309C>T	c.(307-309)atC>atT	p.I103I	ABCA3_uc010bsk.1_Silent_p.I103I|ABCA3_uc010bsl.1_Silent_p.I103I|ABCA3_uc002cpz.1_Silent_p.I103I	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	103					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTCGCATGTTGATCACAAGTG	0.642000														29			31		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349681	90349681	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:90349681G>A	uc002bop.4	-	1	426	c.134C>T	c.(133-135)cCc>cTc	p.P45L		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	45	Cytosolic Ser/Thr-rich junction.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			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)	GGAGGCCACGGGGGAGCTGTT	0.632000														103			86		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710154	31710154	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:31710154C>T	uc021wuu.1	-	9	2747	c.2076G>A	c.(2074-2076)aaG>aaA	p.K692K	OSBPL10_uc003ceu.1_Silent_p.K449K|OSBPL10_uc011axf.2_Silent_p.K628K	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	692					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGGGTCCCTGCTTCTCAAGAG	0.498000														23			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413949	179413949	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179413949C>T	uc021vsy.1	-	287	84925	c.84700G>A	c.(84700-84702)Gga>Aga	p.G28234R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G21929R|TTN_uc021vta.1_Missense_Mutation_p.G21862R|TTN_uc021vtb.1_Missense_Mutation_p.G21737R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29161	Ig-like 131.						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)			GGTCCAACTCCTGCAGCATTT	0.458000														17			16		0	0	1	0	0
LOC728989	728989	broad.mit.edu	37	1	146496469	146496470	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:146496469_146496470GG>AA	uc001epd.2	-	1	104_105	c.30_31CC>TT	c.(28-33)tcccct>tcTTct	p.P11S						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		CGGACTGGAGGGGACACAGCAG	0.530000														5			50		0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78189114	78189114	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:78189114G>A	uc001dht.3	-	12	1731	c.1384C>T	c.(1384-1386)Cca>Tca	p.P462S	USP33_uc001dhs.3_Missense_Mutation_p.P183S|USP33_uc001dhu.3_Missense_Mutation_p.P431S|USP33_uc001dhv.3_Missense_Mutation_p.P267S|USP33_uc001dhw.3_Missense_Mutation_p.P462S	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	462					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	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.S461P(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTTCTCTTTGGAGATGCAGAC	0.338000														4			22		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145757761	145757761	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:145757761C>T	uc003zds.1	-	10	3463	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	ARHGAP39_uc011llk.1_Missense_Mutation_p.E939K|ARHGAP39_uc003zdt.1_Missense_Mutation_p.E939K	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	939	Rho-GAP.				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						GCATTCACCTCGTCAATGTCC	0.642000														38			25		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013148	73013148	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:73013148G>A	uc003hgg.2	+	3	1286	c.1188G>A	c.(1186-1188)atG>atA	p.M396I	NPFFR2_uc010iig.2_Missense_Mutation_p.M178I|NPFFR2_uc003hgi.2_Missense_Mutation_p.M297I|NPFFR2_uc003hgh.2_Missense_Mutation_p.M294I	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	396					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)			GGACTCTAATGATGCTCTCAG	0.488000														49			40		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159650965	159650965	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:159650965C>T	uc010kjv.3	+	9	1499	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	FNDC1_uc010kjw.1_Intron	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	433	Fibronectin type-III 4.					extracellular region		p.F433F(2)		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)		GCTATCTTTTCAAAATCCGGG	0.527000														64			108		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176717	41176717	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:41176717T>A	uc003jmk.2	-	7	1238	c.1028A>T	c.(1027-1029)aAc>aTc	p.N343I	C6_uc003jml.1_Missense_Mutation_p.N343I|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	343	MACPF.				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)				AGGCAGATGGTTAAGTGCTTT	0.408000														86			48		0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	301559	301559	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:301559G>A	uc004cpg.3	-	9	1556	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V	PPP2R3B_uc004cpf.3_Missense_Mutation_p.A32V	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	431					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		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)				GAAGGGCAGGGCCTCGATGGC	0.652000														15			21		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319518	31319518	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:31319518C>T	uc010dmg.1	+	10	2205	c.2150C>T	c.(2149-2151)tCa>tTa	p.S717L	ASXL3_uc002kxq.2_Missense_Mutation_p.S424L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	717	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCAGAAACCTCACCGATGTCT	0.408000														83			198		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227621	38227621	+	Silent	SNP	G	A	A	rs138523815		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:38227621G>A	uc009vvi.3	-	2	392	c.306C>T	c.(304-306)ttC>ttT	p.F102F	EPHA10_uc001cbw.4_Silent_p.F102F	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	102						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCAGTTCCACGAAGATGCGCT	0.612000														12			143		0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24906726	24906726	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:24906726T>A	uc003aaf.3	+	3	1669	c.374T>A	c.(373-375)tTt>tAt	p.F125Y	UPB1_uc003aae.3_Missense_Mutation_p.F57Y	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	125	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GCTATGCCCTTTGCCTTCTGT	0.512000														59			29		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50338354	50338354	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:50338354G>A	uc002egd.1	+	9	1720	c.1452G>A	c.(1450-1452)atG>atA	p.M484I	ADCY7_uc002egb.1_Missense_Mutation_p.M484I|ADCY7_uc002egc.2_Missense_Mutation_p.M484I	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	484					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CAGTGCGCATGACCCGGTACC	0.692000														48			34		0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65294493	65294493	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:65294493C>T	uc001oea.1	+	5	831	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	SCYL1_uc009yqk.3_Missense_Mutation_p.P252S|SCYL1_uc001oeb.1_Missense_Mutation_p.P252S|SCYL1_uc001oec.1_Missense_Mutation_p.P252S	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	252	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CAAGGTGCGTCCCAACCCAGC	0.602000														19			32		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55362762	55362762	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:55362762T>C	uc002lgw.3	-	8	821	c.701A>G	c.(700-702)gAa>gGa	p.E234G	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	234					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	p.E234*(1)		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)				TAAATTGGTTTCTCTAAAGGA	0.328000														10			19		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599171	136599171	+	Missense_Mutation	SNP	C	T	T	rs145724464		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:136599171C>T	uc003qgx.1	-	3	1101	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	BCLAF1_uc003qgy.1_Missense_Mutation_p.R281Q|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R281Q|BCLAF1_uc003qgw.1_Missense_Mutation_p.R283Q	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	283					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)		AGGACTGTATCGACTAGATCC	0.443000														23			17		0	0	1	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442949	20442949	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:20442949C>T	uc001bcz.3	-	1	79	c.62G>A	c.(61-63)gGg>gAg	p.G21E	PLA2G2D_uc009vpo.3_Non-coding_Transcript	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA.	21					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCAGGATCCCGCCCTGGAT	0.577000										Multiple Myeloma(11;0.12)				3			49		0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39245958	39245958	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:39245958C>T	uc003gtv.3	+	21	2666	c.2512C>T	c.(2512-2514)Ccc>Tcc	p.P838S	WDR19_uc011byi.2_Missense_Mutation_p.P678S|WDR19_uc003gtw.1_Missense_Mutation_p.P435S	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	838					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CCTCAAGCATCCCAGCAGGGT	0.453000														59			28		0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24109098	24109098	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:24109098G>A	uc001wkt.4	+	3	861	c.414G>A	c.(412-414)tgG>tgA	p.W138*	DHRS2_uc010aku.1_Nonsense_Mutation_p.W138*|DHRS2_uc001wku.4_Nonsense_Mutation_p.W138*|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	116					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		AGCAGATCTGGGACAAGGTGA	0.657000														23			7		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510297	41510297	+	Missense_Mutation	SNP	G	A	A	rs117323987	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:41510297G>A	uc002opr.1	+	2	437	c.430G>A	c.(430-432)Gag>Aag	p.E144K	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.E104K	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	144					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGTGTGGAGGAGCGGATTCA	0.527000														23			9		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103890	53103890	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:53103890G>A	uc003tpz.3	+	0	542	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	176								p.R175W(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTGCACCCGGGAGACTCTGCT	0.711000														13			27		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884123	228884123	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:228884123G>A	uc002vpq.2	-	6	1494	c.1447C>T	c.(1447-1449)Ctc>Ttc	p.L483F	SPHKAP_uc002vpp.2_Missense_Mutation_p.L483F|SPHKAP_uc010zlx.1_Missense_Mutation_p.L483F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	483				L -> P (in Ref. 1; CAH18317).		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)		TCTCCAGAGAGGATGCTTGAG	0.537000														15			10		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397942	10397942	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:10397942C>T	uc002gmo.3	-	37	5609	c.5515G>A	c.(5515-5517)Gaa>Aaa	p.E1839K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1839						muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						TTGACAGCTTCAACATTGCGC	0.403000														5			52		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108235906	108235906	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:108235906C>G	uc001pkb.1	+	61	9333	c.8948C>G	c.(8947-8949)aCt>aGt	p.T2983S	ATM_uc009yxr.1_Missense_Mutation_p.T2983S|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.T1635S	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2983					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTCACCCTACTCTGAATGCA	0.418000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				74			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088300	9088300	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9088300G>A	uc002mkp.3	-	0	3719	c.3515C>T	c.(3514-3516)tCa>tTa	p.S1172L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1172	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						TCTCTGAGTTGAAAATGTGGA	0.478000														52			43		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43617285	43617285	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:43617285G>A	uc003bdt.2	-	12	1570	c.1443C>T	c.(1441-1443)acC>acT	p.T481T		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	481					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGATGGGGGTGGTGGGGGCAT	0.652000														50			25		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23890171	23890171	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:23890171A>C	uc001wjx.3	-	25	3438	c.3332T>G	c.(3331-3333)cTt>cGt	p.L1111R	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1111					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCACCTGAAGCTCCTTGAG	0.572000														21			6		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13965710	13965710	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:13965710C>T	uc003wwq.3	-	5	1242	c.582G>A	c.(580-582)gaG>gaA	p.E194E	SGCZ_uc010lss.3_Silent_p.E147E	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	181					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGTGCGGCGTCTCCACAGAGT	0.458000														29			20		0	0	1	0	0
PRSS53	339105	broad.mit.edu	37	16	31098880	31098880	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:31098880T>G	uc002eaq.3	-	2	220	c.220A>C	c.(220-222)Act>Cct	p.T74P	PRSS53_uc002ear.3_5'UTR	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	Homo sapiens protease, serine, 53 (PRSS53), mRNA.	74	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						TGGGCAGCAGTGAGGACCCAG	0.622000														9			7		0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99139910	99139910	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:99139910C>T	uc003yij.4	+	2	330	c.230C>T	c.(229-231)tCc>tTc	p.S77F	POP1_uc011lgv.2_Missense_Mutation_p.S77F|POP1_uc003yik.3_Missense_Mutation_p.S77F	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	77					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)			CAGTCTTCCTCCAAAGGGATG	0.493000														160			36		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31168701	31168701	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:31168701G>A	uc002rns.3	-	7	1345	c.705C>T	c.(703-705)atC>atT	p.I235I	GALNT14_uc002rnq.3_Silent_p.I210I|GALNT14_uc010ymr.2_Silent_p.I195I|GALNT14_uc002rnr.3_Silent_p.I230I|GALNT14_uc010ezo.2_Silent_p.I197I|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	230						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)					CCAGGTTAATGATATCGATCA	0.547000														46			22		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958047	49958047	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:49958047C>T	uc004dow.1	-	4	1441	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	AKAP4_uc004dou.1_Silent_p.K430K|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.K261K	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	439					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ACTTAGTCTCCTTCTCCTCAC	0.458000														4			52		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159655479	159655479	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:159655479C>T	uc010kjv.3	+	10	4135	c.3935C>T	c.(3934-3936)tCc>tTc	p.S1312F	FNDC1_uc010kjw.1_Missense_Mutation_p.S1197F	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1312						extracellular region				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)		AACCCTCTCTCCCGACAGCCT	0.532000														25			12		0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11606393	11606393	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:11606393G>A	uc010hdx.1	-	2	779	c.373C>T	c.(373-375)Cac>Tac	p.H125Y	VGLL4_uc003bwf.2_Missense_Mutation_p.H119Y|VGLL4_uc003bwg.2_Missense_Mutation_p.H124Y|VGLL4_uc010hdv.1_Missense_Mutation_p.H35Y|VGLL4_uc010hdw.1_Missense_Mutation_p.H39Y|VGLL4_uc011aun.1_Missense_Mutation_p.H60Y	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GTGTACAGGTGGCTGCCGTGC	0.692000														24			5		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52539134	52539134	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:52539134C>T	uc003dej.3	+	12	1567	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	STAB1_uc003dei.1_Missense_Mutation_p.P498L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	498					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGGCAGGCCCCCTCTGGGACC	0.612000														100			27		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77247092	77247092	+	Silent	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:77247092T>C	uc003hkb.4	-	21	3228	c.3075A>G	c.(3073-3075)ctA>ctG	p.L1025L	U7_uc021xpf.1_5'Flank	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	1025	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTGAACTAGTTAGGAGTGAGT	0.368000														68			89		0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882974	64882974	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:64882974G>A	uc001ocv.3	+	6	1660	c.1063G>A	c.(1063-1065)Ggg>Agg	p.G355R	TM7SF2_uc001oct.3_Missense_Mutation_p.G334R|TM7SF2_uc010rny.2_Missense_Mutation_p.G218R|TM7SF2_uc001ocu.3_Missense_Mutation_p.G307R|BC104003_uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	334					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACAGCCACAGGGCGGAAACT	0.607000														47			9		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281188	25281188	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:25281188G>A	uc010aaa.3	+	15	2548	c.2215G>A	c.(2215-2217)Gga>Aga	p.G739R	ATP12A_uc001upp.3_Missense_Mutation_p.G733R	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	733					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)	GACCGGGGATGGAGTTAATGA	0.557000														8			21		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71690233	71690233	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:71690233G>A	uc001jql.3	+	28	2111	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	COL13A1_uc021prz.1_Silent_p.V503V|COL13A1_uc021psa.1_Silent_p.V468V|COL13A1_uc021psb.1_Silent_p.V474V|COL13A1_uc001jqk.2_Silent_p.V503V|COL13A1_uc021psc.1_Silent_p.V506V|COL13A1_uc021psd.1_Silent_p.V503V|COL13A1_uc010qjf.2_Silent_p.V468V|COL13A1_uc021pse.1_Silent_p.V474V|COL13A1_uc021psf.1_Silent_p.V525V|COL13A1_uc021psg.1_Silent_p.V503V|COL13A1_uc021psh.1_Silent_p.V506V	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	525	Triple-helical region 3 (COL3).				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)	CTCCAGGAGTGAAGGGAGAAA	0.602000														3			11		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904856	73904856	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:73904856G>A	uc011dyh.2	+	14	2922	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K	KCNQ5_uc011dyi.2_Missense_Mutation_p.E850K|KCNQ5_uc010kat.3_Missense_Mutation_p.E831K|KCNQ5_uc003pgk.3_Missense_Mutation_p.E840K|KCNQ5_uc011dyj.2_Missense_Mutation_p.E730K|KCNQ5_uc011dyk.2_Missense_Mutation_p.E590K	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	840					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)		CAGGTCGACCGAGGAACTGAA	0.463000														20			12		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178427504	178427504	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:178427504C>T	uc001glq.3	+	13	3841	c.3077C>T	c.(3076-3078)cCa>cTa	p.P1026L	RASAL2_uc001glr.3_Missense_Mutation_p.P885L|RASAL2_uc009wxc.3_Missense_Mutation_p.P399L	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	885					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						GCCAAAGCCCCACCATCCCTG	0.587000														2			92		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782677	54782677	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:54782677G>A	uc002qfb.3	-	5	1211	c.945C>T	c.(943-945)atC>atT	p.I315I	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.I315I|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.I315I|LILRB2_uc010yet.2_Silent_p.I199I|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	315	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGATCAGGATGTCCAGGG	0.652000														27			13		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867415	6867415	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:6867415C>T	uc001met.1	+	0	502	c.502C>T	c.(502-504)Cca>Tca	p.P168S		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTCAGTTTTCCATTCTGTGG	0.527000														34			68		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38840805	38840805	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:38840805C>T	uc021yzh.1	+	50	7470	c.7361C>T	c.(7360-7362)cCt>cTt	p.P2454L	DNAH8_uc003ooe.2_Missense_Mutation_p.P2237L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						CCCATGGCCCCTAGTTGTAAG	0.473000														45			29		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76450739	76450739	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:76450739C>T	uc010dhp.2	-	63	10344	c.10219G>A	c.(10219-10221)Gat>Aat	p.D3407N	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											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)			TCCGCGTCATCTGTCAGCAGG	0.612000														7			42		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3342247	3342248	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:3342247_3342248CC>TT	uc001akf.3	+	12	3124_3125	c.3042_3043CC>TT	c.(3040-3045)aaccgc>aaTTgc	p.R1015C	PRDM16_uc001ake.3_Missense_Mutation_p.R1015C|PRDM16_uc009vlh.3_Missense_Mutation_p.R715C|PRDM16_uc001akc.3_Missense_Mutation_p.R1014C	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1015	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCTGTGCAACCGCTGCTTCGG	0.624000			T	EVI1	"""MDS, AML"""									13			83		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141299408	141299408	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:141299408G>A	uc002tvj.1	-	43	8299	c.7327C>T	c.(7327-7329)Cgt>Tgt	p.R2443C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2443					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L2442I(1)		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)		ATATCGGAACGAAGAATTTTT	0.388000										TSP Lung(27;0.18)				34			35		0	0	1	0	0
LARP7	51574	broad.mit.edu	37	4	113567583	113567583	+	Silent	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:113567583A>T	uc003iaz.3	+	4	765	c.300A>T	c.(298-300)gcA>gcT	p.A100A	LARP7_uc003iay.3_Silent_p.A93A|LARP7_uc003iba.3_Silent_p.A14A|LARP7_uc003ibb.3_Silent_p.A93A	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA.	93	HTH La-type RNA-binding.				RNA processing	nucleoplasm|ribonucleoprotein complex	RNA binding|nucleotide binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTGCCAGAGCATTGAGAAGTT	0.254000														19			29		0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71798560	71798560	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:71798560T>A	uc010cgg.3	-	7	1122	c.808A>T	c.(808-810)Ata>Tta	p.I270L	AP1G1_uc021tkz.1_Missense_Mutation_p.I58L|AP1G1_uc002fbb.3_Missense_Mutation_p.I293L|AP1G1_uc010vmg.1_Non-coding_Transcript|AP1G1_uc021tky.1_Missense_Mutation_p.I273L	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	270					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGTGCTAATATATCATTCATA	0.318000														18			16		0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25297576	25297576	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:25297576C>T	uc001rgk.3	-	8	807	c.725G>A	c.(724-726)gGa>gAa	p.G242E	CASC1_uc001rgj.3_Missense_Mutation_p.G196E|CASC1_uc001rgm.4_Missense_Mutation_p.G300E|CASC1_uc001rgl.3_Missense_Mutation_p.G236E|CASC1_uc010sje.2_Missense_Mutation_p.G177E|CASC1_uc010sjf.2_Missense_Mutation_p.G124E|CASC1_uc010sjg.1_Missense_Mutation_p.G236E	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	236										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AATCTCAAATCCAATTTGTGT	0.378000														14			7		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34356466	34356466	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:34356466G>A	uc001zhk.1	+	2	2218	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K	CHRM5_uc001zhl.1_Silent_p.K516K|CHRM5_uc021sir.1_Silent_p.K516K	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	516					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)	GATGGAAAAAGAAAAAAGTGG	0.463000														23			26		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183710456	183710456	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:183710456G>A	uc003ivd.1	+	23	5590	c.5515G>A	c.(5515-5517)Gag>Aag	p.E1839K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1839					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CACCACTAGCGAGAAAGTAGA	0.502000														14			17		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61939901	61939901	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:61939901C>T	uc011aau.2	+	7	883	c.783C>T	c.(781-783)gcC>gcT	p.A261A	COL20A1_uc011aav.2_Silent_p.A82A	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	261	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AAGGCCTTGCCCTGACCCACG	0.652000														7			9		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166960489	166960489	+	Splice_Site	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:166960489A>G	uc003irh.2	+	10	1806	c.1159_splice	c.e10-2	p.I387_splice	TLL1_uc011cjn.2_Splice_Site_p.I387_splice|TLL1_uc011cjo.2_Splice_Site_p.I211_splice	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	387	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)		TCCATTTTGCAGATTGTTTTA	0.363000														12			13		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73559842	73559842	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:73559842C>T	uc002joh.3	+	8	990	c.836C>T	c.(835-837)cCt>cTt	p.P279L	LLGL2_uc002jog.1_Missense_Mutation_p.P279L|LLGL2_uc010dgf.1_Missense_Mutation_p.P279L|LLGL2_uc002joi.3_Missense_Mutation_p.P279L|LLGL2_uc010dgg.2_Missense_Mutation_p.P279L|LLGL2_uc002joj.3_Missense_Mutation_p.P268L|LLGL2_uc010wsd.2_5'UTR|AF289551_uc002jok.3_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	279					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)			GGTCCCTTTCCTTGCAAAGCG	0.532000														8			38		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21245186	21245186	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:21245186G>A	uc010bwp.1	+	0	171	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	43										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GCCTACCATGGGAACTTGGAA	0.463000														58			53		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14958499	14958500	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:14958499_14958500CC>TA	uc002dcv.3	+	12	1519_1520	c.1453_1454CC>TA	c.(1453-1455)cct>TAt	p.P485Y		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	485						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						CCAGACATTTCCTCTTACTGTG	0.500000														311			96		0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72388284	72388284	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:72388284C>T	uc009zrw.1	+	7	1148	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L	TPH2_uc001swy.2_Missense_Mutation_p.S246L	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	336					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCTCAGTTTTCACAAGAAATA	0.408000														32			21		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961452	73961452	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:73961452C>T	uc004eby.3	-	2	3557	c.2940G>A	c.(2938-2940)caG>caA	p.Q980Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	980					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			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						TGACTGGCCCCTGCTGGAAAG	0.443000														6			22		0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58537757	58537758	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:58537757_58537758CC>TT	uc002enm.3	+	3	574_575	c.233_234CC>TT	c.(232-234)ccc>cTT	p.P78L	NDRG4_uc002enk.3_Missense_Mutation_p.P58L|NDRG4_uc010vif.2_Missense_Mutation_p.P58L|NDRG4_uc002eno.3_Missense_Mutation_p.P26L|NDRG4_uc010cdk.3_Missense_Mutation_p.P26L|NDRG4_uc010vig.2_Missense_Mutation_p.P56L|NDRG4_uc010vih.2_5'UTR|NDRG4_uc010vii.2_Missense_Mutation_p.P44L|NDRG4_uc002enp.3_Missense_Mutation_p.P26L|NDRG4_uc002enq.1_5'Flank	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	26					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		p.C78F(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CGGGGCTCCCCCAAGGGGAACC	0.624000														37			18		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727871	35727871	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:35727871G>A	uc003jjo.3	+	20	3120	c.3009G>A	c.(3007-3009)caG>caA	p.Q1003Q	SPEF2_uc003jjp.1_Silent_p.Q489Q	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1003					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGTGCCACAGCCACCTAAGC	0.428000														92			44		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735475	55735475	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:55735475G>A	uc010rit.2	-	0	465	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGGGCAAAAGGAAAATTTGGC	0.388000														34			6		0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8049421	8049421	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:8049421G>A	uc002gkd.3	-	16	2311	c.2073C>T	c.(2071-2073)gcC>gcT	p.A691A	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.A675A	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	691	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCGTGGGGTGGCCCCCTCCC	0.642000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						2			27		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206480365	206480365	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:206480365C>T	uc002var.2	+	22	3653	c.3446C>T	c.(3445-3447)cCc>cTc	p.P1149L	PARD3B_uc002vao.2_Missense_Mutation_p.P1048L|PARD3B_uc002vap.2_Missense_Mutation_p.P1087L|PARD3B_uc002vaq.2_Missense_Mutation_p.P1080L	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	1149	Poly-Pro.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCGCCAGCTCCCCAGCACAAA	0.627000														46			39		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745020	84745020	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:84745020G>A	uc021pvc.1	+	9	1849	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	NRG3_uc010qlz.1_Missense_Mutation_p.E583K|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.E584K|NRG3_uc001kcp.2_Missense_Mutation_p.E387K|NRG3_uc001kcq.2_Missense_Mutation_p.E234K|NRG3_uc021pvd.1_Missense_Mutation_p.E363K|NRG3_uc021pve.1_Missense_Mutation_p.E388K|NRG3_uc021pvf.1_Missense_Mutation_p.E234K|NRG3_uc021pvg.1_Missense_Mutation_p.E412K|NRG3_uc021pvh.1_Missense_Mutation_p.E196K|NRG3_uc021pvi.1_Missense_Mutation_p.E414K|NRG3_uc021pvk.1_Missense_Mutation_p.E124K|NRG3_uc001kcr.2_Missense_Mutation_p.E258K|NRG3_uc021pvl.1_Missense_Mutation_p.E234K	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	608					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.E584*(1)|p.E387*(1)		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)		GGGTTTAGAGGAAACCTGCCT	0.463000														9			51		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433356	40433356	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:40433356G>A	uc002omp.4	-	1	921	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	305	IgGFc-binding.					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)			GACAGGTAGAGTGGCCAGGAT	0.562000														20			21		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610797	50610797	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:50610797G>A	uc001csb.2	+	1	446	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	ELAVL4_uc001cry.3_Missense_Mutation_p.E63K|ELAVL4_uc001crz.3_Missense_Mutation_p.E60K|ELAVL4_uc001csa.3_Missense_Mutation_p.E77K|ELAVL4_uc001csc.3_Missense_Mutation_p.E60K|ELAVL4_uc009vyu.3_Missense_Mutation_p.E65K|ELAVL4_uc010omz.2_Missense_Mutation_p.E65K	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	60	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TATGACCCAAGAAGAATTCAG	0.433000														5			121		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120150489	120150489	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:120150489G>A	uc001txj.2	-	35	4647	c.4591C>T	c.(4591-4593)Ccg>Tcg	p.P1531S	CIT_uc001txh.2_Missense_Mutation_p.P1008S|CIT_uc001txi.2_Missense_Mutation_p.P1489S	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1489	PH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTTCCACCGGCCTCTGTCCA	0.512000														23			27		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756047	10756047	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:10756047C>T	uc003wtk.1	-	2	1368	c.1341G>A	c.(1339-1341)acG>acA	p.T447T		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	447						integral to membrane		p.T447T(2)		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)		TCAAGACTATCGTATAATATG	0.473000														14			19		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858629	9858629	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:9858629G>A	uc010uym.2	-	13	3082	c.2772C>T	c.(2770-2772)ttC>ttT	p.F924F	GRIN2A_uc002czo.4_Silent_p.F924F|GRIN2A_uc010uyn.2_Silent_p.F767F|GRIN2A_uc002czr.4_Silent_p.F924F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	924					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|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)	CTCTTTGGATGAAGTCAGCAG	0.448000														146			74		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896841	175896841	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:175896841C>T	uc003iuc.3	+	4	835	c.165C>T	c.(163-165)atC>atT	p.I55I	ADAM29_uc003iud.3_Silent_p.I55I|ADAM29_uc010irr.3_Silent_p.I55I|ADAM29_uc011cki.2_Silent_p.I55I|ADAM29_uc021xuo.1_Silent_p.I55I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	55					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCTCCTATATCCTGCCCTTTG	0.512000														17			14		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126790295	126790295	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:126790295C>T	uc003kuh.4	+	23	3380	c.3018C>T	c.(3016-3018)tcC>tcT	p.S1006S	MEGF10_uc003kui.4_Silent_p.S1006S	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1006	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGGGAAAATCCTTAAAAGGTA	0.323000														3			20		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101972234	101972234	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:101972234C>T	uc022cbh.1	+	0	2437	c.2437C>T	c.(2437-2439)Cgt>Tgt	p.R813C	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.R813C|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.R813C	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	813						cytoplasm	protein binding										TTCTGCATTTCGTGAATTTGA	0.358000														10			78		0	0	1	0	0
RHOH	399	broad.mit.edu	37	4	40245097	40245097	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:40245097G>A	uc003guz.2	+	2	815	c.91G>A	c.(91-93)Gag>Aag	p.E31K	RHOH_uc021xnp.1_Missense_Mutation_p.E31K	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	31					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GACCTTCCCGGAGGCCTACAA	0.597000														24			39		0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8922501	8922501	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:8922501G>A	uc002mkn.1	-	5	895	c.665C>T	c.(664-666)tCc>tTc	p.S222F	ZNF558_uc010xkh.1_Missense_Mutation_p.S151F|ZNF558_uc010dwg.1_Missense_Mutation_p.S222F	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S222F(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CAGTCTAAGGGATGAGGGATC	0.408000														19			16		0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197755585	197755585	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:197755585G>A	uc002utw.3	-	9	1254	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	PGAP1_uc002utx.3_Silent_p.I206I|PGAP1_uc002uty.1_Silent_p.I380I|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_3'UTR	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	380					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CATGAGTGTAGATTTTTCTAT	0.299000														17			13		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10077009	10077009	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:10077009G>A	uc002mmq.1	-	63	4849	c.4763C>T	c.(4762-4764)cCc>cTc	p.P1588L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1588	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTTCTTGTCGGGATAGAGGCA	0.592000														35			25		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24570193	24570193	+	Silent	SNP	G	A	A	rs138076041		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:24570193G>A	uc011djo.2	-	11	2429	c.1929C>T	c.(1927-1929)acC>acT	p.T643T	KIAA0319_uc011djp.2_Silent_p.T598T|KIAA0319_uc003neh.1_Silent_p.T643T|KIAA0319_uc011djq.1_Silent_p.T634T|KIAA0319_uc011djr.1_Silent_p.T643T|KIAA0319_uc010jpt.1_Silent_p.T54T	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	643	PKD 4.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCCCATCCAGGGTAGCACTTT	0.522000														24			19		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3975931	3975931	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:3975931G>A	uc002fxe.3	-	24	3869	c.3805C>T	c.(3805-3807)Ccc>Tcc	p.P1269S	ZZEF1_uc002fxj.1_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1269							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGGTGAGTGGGCCAGCTTGCT	0.428000														2			33		0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139741099	139741099	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:139741099C>T	uc011meh.2	+	0	2233	c.2233C>T	c.(2233-2235)Ctg>Ttg	p.L745L	PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	745										endometrium(2)|large_intestine(1)|lung(6)	9						TGTCGGCTTCCTGTCGCGCGG	0.701000														0			24		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414093	157414093	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:157414093C>T	uc003wno.3	-	14	2426	c.2305G>A	c.(2305-2307)Gag>Aag	p.E769K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E752K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E740K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E731K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E792K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	769	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCACGTTCTCCTCCCTCTGG	0.657000														233			120		0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85892791	85892791	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:85892791C>T	uc002sqj.3	-	5	656	c.556G>A	c.(556-558)Gac>Aac	p.D186N	SFTPB_uc002sqi.3_Missense_Mutation_p.D186N|SFTPB_uc002sqh.3_Missense_Mutation_p.D186N	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	174					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						ACGAGCTTGTCCAGCAGAGGG	0.672000														77			54		0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65123859	65123859	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:65123859C>T	uc021qlj.1	+	0	580	c.580C>T	c.(580-582)Caa>Taa	p.Q194*	TIGD3_uc001odo.4_Nonsense_Mutation_p.Q194*	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	194	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TGCATGTGATCAAGTACAGGT	0.592000														161			49		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890183	31890183	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:31890183C>T	uc002wyw.1	+	9	1107	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	BPIFB1_uc002wyx.1_5'Flank	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	316						extracellular space	lipid binding	p.R316W(1)									GAGTGCCCATCGGCTGAAGTC	0.582000														74			69		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88417909	88417909	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:88417909C>T	uc010qmk.1	+	3	671	c.444C>T	c.(442-444)ctC>ctT	p.L148L	OPN4_uc001kdp.3_Silent_p.L148L|OPN4_uc001kdq.3_Silent_p.L137L|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	137					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						AGCAGTGGCTCTTTGGGGAGA	0.567000														4			25		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48368104	48368104	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:48368104C>T	uc001rqu.3	-	52	4266	c.4085G>A	c.(4084-4086)gGa>gAa	p.G1362E	COL2A1_uc001rqt.3_Missense_Mutation_p.G143E|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G1293E	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1362	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.G1293A(1)|p.G1362A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ATTGTCATCTCCATAGCTGAA	0.572000														14			19		0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	25002056	25002056	+	Silent	SNP	A	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:25002056A>T	uc002wub.3	-	5	1157	c.1077T>A	c.(1075-1077)ctT>ctA	p.L359L	ACSS1_uc002wuc.3_Silent_p.L359L|ACSS1_uc021wbm.1_Silent_p.L359L|ACSS1_uc010gdc.3_Intron|ACSS1_uc002wua.3_Silent_p.L276L|ACSS1_uc021wbl.1_Silent_p.L238L|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	359					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCTCTCAAAAAGGACGCTGG	0.562000														54			26		0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27145103	27145103	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:27145103G>A	uc003xfl.1	-	5	1528	c.1446C>T	c.(1444-1446)ccC>ccT	p.P482P	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	482	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TGATGTGCAAGGGGCAGATGC	0.622000														3			4		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350221	100350221	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:100350221C>T	uc003uwj.3	+	13	2658	c.2493C>T	c.(2491-2493)acC>acT	p.T831T	ZAN_uc003uwk.3_Silent_p.T831T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	831	66 X heptapeptide repeats (approximate) (mucin-like domain).				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)			AAACCACCACCTCTGTTGAAG	0.512000														97			45		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874347	36874347	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:36874347G>A	uc003cgj.3	-	20	6843	c.6595C>T	c.(6595-6597)Cct>Tct	p.P2199S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2199					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						AAGATTTTAGGGAATACTTTT	0.403000														23			7		0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230652368	230652368	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:230652368G>A	uc002vpx.1	-	32	4876	c.4767C>T	c.(4765-4767)ttC>ttT	p.F1589F	TRIP12_uc021vxw.1_Silent_p.F1574F|TRIP12_uc002vpy.1_Silent_p.F1271F|TRIP12_uc002vpw.1_Silent_p.F1541F	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1541					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAAAAGGAAAGAAAAATGGGC	0.333000														8			16		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538668	4538668	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:4538668C>T	uc002mau.3	-	1	339	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	110						extracellular region|membrane		p.P109P(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		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)		CGCAGGAATTCGGGCGAGAGG	0.637000														18			20		0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359247	64359247	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:64359247G>A	uc001oam.1	+	0	966	c.219G>A	c.(217-219)ctG>ctA	p.L73L	SLC22A12_uc009ypr.1_Silent_p.L73L|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.L73L|SLC22A12_uc001oan.1_Silent_p.L73L|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	73					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						AGGCCCTCCTGGCTATTTCCA	0.692000														24			29		0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52677322	52677322	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:52677322G>A	uc003des.2	-	8	949	c.937C>T	c.(937-939)Cct>Tct	p.P313S	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.P313S|PBRM1_uc003der.2_Intron|PBRM1_uc003det.2_Missense_Mutation_p.P313S|PBRM1_uc003deu.2_Missense_Mutation_p.P313S|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.P313S|PBRM1_uc010hmk.1_Missense_Mutation_p.P313S|PBRM1_uc003dey.2_Missense_Mutation_p.P313S|PBRM1_uc003dez.1_Missense_Mutation_p.P313S|PBRM1_uc003dfb.1_Missense_Mutation_p.P211S	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	313					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGTGTGAAGGACCTGTCAGT	0.443000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									39			51		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126408728	126408728	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:126408728C>T	uc003ifj.4	+	15	13045	c.13045C>T	c.(13045-13047)Cca>Tca	p.P4349S	FAT4_uc011cgp.2_Missense_Mutation_p.P2590S|FAT4_uc003ifi.1_Missense_Mutation_p.P1827S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4349	Laminin G-like 2.				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						TGGAGGAATTCCACCCAATCA	0.378000														22			24		0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44507907	44507907	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:44507907G>A	uc002ruc.4	+	1	561	c.483G>A	c.(481-483)tgG>tgA	p.W161*	SLC3A1_uc002rty.3_Nonsense_Mutation_p.W161*|SLC3A1_uc002rtz.2_Nonsense_Mutation_p.W161*|SLC3A1_uc002rua.3_Nonsense_Mutation_p.W161*|SLC3A1_uc002rub.2_Nonsense_Mutation_p.W161*	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	161					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			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)	AAACTGTTTGGATTACTTCAT	0.318000														23			21		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999379	27999379	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:27999379C>G	uc004dbx.1	-	0	188	c.73G>C	c.(73-75)Gag>Cag	p.E25Q		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	25										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCAGACTGCTCCTCTGGGCTG	0.567000														3			18		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121147	12121147	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:12121147C>T	uc003nac.3	+	3	1298	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	373					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCATGCCAATCTATAATTCAA	0.403000														113			54		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187880	152187880	+	Silent	SNP	T	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:152187880T>G	uc001ezt.1	-	2	6301	c.6225A>C	c.(6223-6225)tcA>tcC	p.S2075S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2075					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)			GAGACTGCCTTGACCCAGACC	0.627000														23			231		0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97339573	97339573	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:97339573C>T	uc001tew.3	+	12	1924	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	NEDD1_uc001teu.4_Missense_Mutation_p.S586F|NEDD1_uc001tev.4_Missense_Mutation_p.S586F|NEDD1_uc010svc.2_Missense_Mutation_p.S497F|NEDD1_uc001tex.3_Missense_Mutation_p.S497F	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	586					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CCATTGACTTCCATTCAAATT	0.388000														11			19		0	0	1	0	0
MYL9	10398	broad.mit.edu	37	20	35173263	35173263	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:35173263G>A	uc002xfl.1	+	2	69	c.-25_splice	c.e2-1		BC039668_uc002xfk.3_Intron|MYL9_uc002xfm.1_Splice_Site	NM_006097	NP_006088	P24844	MYL9_HUMAN	Homo sapiens myosin, light chain 9, regulatory (MYL9), transcript variant 1, mRNA.						axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TTCCTGCAGGGAAGCCCCACC	0.612000														15			23		0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52779351	52779351	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:52779351G>A	uc003jpd.3	+	2	653	c.295G>A	c.(295-297)Gac>Aac	p.D99N	FST_uc003jpc.3_Missense_Mutation_p.D99N	NM_013409	NP_037541	P19883	FST_HUMAN	Homo sapiens follistatin (FST), transcript variant FST344, mRNA.	99	Follistatin-like 1.|TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				TGAGAACGTGGACTGTGGACC	0.547000														44			20		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276950	152276950	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:152276950C>A	uc001ezu.1	-	2	10448	c.10412G>T	c.(10411-10413)gGa>gTa	p.G3471V		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3471	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACCTTCCCTGGGATGT	0.572000									Ichthyosis					34			585		0	0	1	1	0
OR8K5	219453	broad.mit.edu	37	11	55927275	55927275	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:55927275G>A	uc010rja.2	-	0	519	c.519C>T	c.(517-519)gtC>gtT	p.V173V		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AATGACTGATGACATTAGAGC	0.358000														22			35		0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246948	80246948	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:80246948C>T	uc003hlt.4	-	0	224	c.84G>A	c.(82-84)atG>atA	p.M28I	NAA11_uc021xpl.1_Missense_Mutation_p.M28I	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	28	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						AATAGTATTTCATCTGGTAGT	0.493000														35			45		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947935	150947935	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:150947935G>A	uc003lue.4	-	0	571	c.558C>T	c.(556-558)gcC>gcT	p.A186A	FAT2_uc010jhx.1_Silent_p.A186A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	186	Cadherin 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.A186A(2)		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)			TTGTGTTAAAGGCATAATAGA	0.532000														234			40		0	0	1	0	0
GSTM4	2948	broad.mit.edu	37	1	110217383	110217383	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:110217383C>T	uc001dyi.3	+	7	896	c.582C>T	c.(580-582)atC>atT	p.I194I	GSTM4_uc001dyj.3_Silent_p.I194I|GSTM4_uc010ovt.2_Intron|GSTM4_uc009wfk.3_Intron	NM_000848	NP_000839	Q03013	GSTM4_HUMAN	Homo sapiens glutathione S-transferase mu 2 (muscle) (GSTM2), transcript variant 1, mRNA.	194	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TGGAGAAGATCTCTGCCTACA	0.577000														6			135		0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136513031	136513031	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:136513031G>A	uc004cel.3	+	5	1097	c.1088G>A	c.(1087-1089)gGg>gAg	p.G363E		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	363					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			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)	TTCAACGCGGGGATCATGGAG	0.602000														5			17		0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011442	138011442	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:138011442C>T	uc010nar.3	+	5	895	c.876C>T	c.(874-876)caC>caT	p.H292H	OLFM1_uc004cfl.4_Silent_p.H274H|OLFM1_uc004cfn.4_Silent_p.H43H	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	292	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TCACCTCCCACCGTCTCCCCC	0.532000														10			74		0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95003157	95003157	+	Silent	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:95003157A>G	uc004art.1	-	29	3521	c.3264T>C	c.(3262-3264)tgT>tgC	p.C1088C	IARS_uc004ars.1_Silent_p.C933C|IARS_uc004aru.3_Silent_p.C1088C|IARS_uc010mqr.2_Silent_p.C978C|IARS_uc010mqt.2_Silent_p.C311C	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	1088					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TGCCATTTGCACAAATGTTAA	0.373000														2			21		0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112944963	112944963	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:112944963G>A	uc002tho.1	+	7	1471	c.1200G>A	c.(1198-1200)caG>caA	p.Q400Q	FBLN7_uc010fki.1_Silent_p.Q354Q|FBLN7_uc010fkj.1_Silent_p.Q266Q	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	400					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCCTTGTGCAGAACCTGGAGG	0.612000														41			35		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798066	55798066	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:55798066C>T	uc010riw.2	+	0	172	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	58					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)					CCTTCAAATTCCCATGTATTA	0.338000														38			9		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399660	10399660	+	Silent	SNP	C	T	T	rs146890530	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:10399660C>T	uc002gmo.3	-	33	4957	c.4863G>A	c.(4861-4863)aaG>aaA	p.K1621K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1621						muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						CTCCCTCCATCTTCTTCTTGA	0.502000														13			82		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121483463	121483463	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:121483463A>C	uc001pxx.3	+	39	5470	c.5341A>C	c.(5341-5343)Aac>Cac	p.N1781H	SORL1_uc010rzp.1_Missense_Mutation_p.N627H|SORL1_uc010rzq.1_Missense_Mutation_p.N396H	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1781	Fibronectin type-III 3.				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)		CTATGTGGTGAACCTTTTCTG	0.448000														26			8		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118772659	118772659	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:118772659A>G	uc001pug.3	-	5	2758	c.1793T>C	c.(1792-1794)tTt>tCt	p.F598S	BCL9L_uc009zal.3_Missense_Mutation_p.F593S	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	598					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGGCCCAGGAAAGGGAGGTCC	0.627000														3			9		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22036790	22036790	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:22036790C>T	uc010gtj.1	+	7	568	c.452C>T	c.(451-453)tCc>tTc	p.S151F	PPIL2_uc002zvh.4_Missense_Mutation_p.S151F|PPIL2_uc002zvi.4_Missense_Mutation_p.S151F|PPIL2_uc002zvg.4_Missense_Mutation_p.S151F|PPIL2_uc011aij.2_Missense_Mutation_p.S130F	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	151					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GAGCCCTTCTCCCGGCAGGAC	0.612000														21			23		0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128332376	128332376	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:128332376G>A	uc010sbs.1	-	7	1522	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ETS1_uc001qej.2_Silent_p.I446I|ETS1_uc009zch.2_Silent_p.I186I|ETS1_uc009zcg.2_3'UTR	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	402					PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CTGTCTTGTGGATGATGTTTT	0.522000														39			18		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446835	226446835	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:226446835C>T	uc002voe.2	+	3	877	c.702C>T	c.(700-702)ccC>ccT	p.P234P	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.P4P	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	234																	TGGGCAGCCCCGCGGGAGACC	0.602000														63			48		0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165398092	165398092	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:165398092C>T	uc001gda.3	-	1	623	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	RXRG_uc021pea.1_5'UTR	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	54	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	ACTCAGAGTCCGTGGGGCACT	0.612000														6			63		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624727	154624727	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:154624727C>T	uc003inq.3	+	2	887	c.668C>T	c.(667-669)tCc>tTc	p.S223F	TLR2_uc003inr.3_Missense_Mutation_p.S223F|TLR2_uc003ins.3_Missense_Mutation_p.S223F|TLR2_uc021xtl.1_Missense_Mutation_p.S223F	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	223					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta 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 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|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.S223F(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GTTACAAGTTCCGTGGAATGT	0.343000														28			6		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509192	110509192	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:110509192G>A	uc003yne.3	+	63	10476	c.10372G>A	c.(10372-10374)Gga>Aga	p.G3458R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3458					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)			TGAAGCCCATGGAGGTTTATA	0.378000										HNSCC(38;0.096)				74			45		0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52668714	52668714	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:52668714G>A	uc002aby.2	-	18	2494	c.2250C>T	c.(2248-2250)ttC>ttT	p.F750F	MYO5A_uc002abx.3_Silent_p.F750F|MYO5A_uc010uge.1_Silent_p.F619F	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	750	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GACCGGCACGGAAAAAGATCT	0.398000														20			19		0	0	1	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:75814354C>G	uc010ths.2	-	0	164	c.123G>C	c.(121-123)tgG>tgC	p.W41C						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CCACCAGTTCCCATGGAAAAC	0.488000														29			4		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200877985	200877985	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:200877985C>T	uc001gvo.3	+	6	999	c.957C>T	c.(955-957)gtC>gtT	p.V319V	C1orf106_uc010ppm.2_Silent_p.V234V	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	319	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGGCTCCAGTCCAGAACAGCC	0.627000														9			124		0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36106512	36106512	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:36106512C>T	uc003ols.3	+	9	894	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	266	Protein kinase.				Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GCCACAGACCCCCAGGAAGGA	0.612000														21			18		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25308672	25308672	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:25308672G>A	uc003abg.2	+	22	3203	c.3046G>A	c.(3046-3048)Gga>Aga	p.G1016R	SGSM1_uc010guu.1_Missense_Mutation_p.G961R|SGSM1_uc003abh.2_Missense_Mutation_p.G955R|SGSM1_uc003abj.2_Missense_Mutation_p.G900R|SGSM1_uc003abi.1_Missense_Mutation_p.G936R	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	1016	Rab-GAP TBC.					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						CTTCCCCCACGGAGGCGCCAT	0.512000														10			13		0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197640835	197640835	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:197640835C>T	uc002uts.3	-	12	1751	c.1594_splice	c.e12-1	p.E532_splice	GTF3C3_uc010zgu.2_Splice_Site_p.E503_splice	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	532						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AACTTCAGTTCCTAAACAAAT	0.308000														30			17		0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151239724	151239724	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:151239724C>T	uc001exl.3	+	9	1101	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S		NM_002810	NP_002801	P55036	PSMD4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA.	347					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|viral reproduction	proteasome complex	protein binding|zinc ion binding	p.P347P(1)		breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTGTGGATCCCAACAATGA	0.542000														4			146		0	0	1	0	0
CLPSL1	340204	broad.mit.edu	37	6	35755649	35755649	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:35755649C>T	uc003old.4	+	2	285	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN	Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA.	76					digestion|lipid catabolic process	extracellular region	enzyme activator activity										CCCAGGTGTTCTTTGGCCAAT	0.542000														129			23		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:41382221C>T	uc003jmm.1	-	1	621	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	173	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428000														144			63		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186134267	186134267	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:186134267C>T	uc001grq.1	+	97	15510	c.15281C>T	c.(15280-15282)tCc>tTc	p.S5094F	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.S663F	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5094					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						CAGTGCCCCTCCGGGTTTACC	0.413000														2			36		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350690	100350690	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:100350690G>A	uc003uwj.3	+	13	3127	c.2962G>A	c.(2962-2964)Gaa>Aaa	p.E988K	ZAN_uc003uwk.3_Missense_Mutation_p.E988K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	988	66 X heptapeptide repeats (approximate) (mucin-like domain).				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)			CATCCCCACAGAAAAACCCAC	0.572000														63			70		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119124871	119124871	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:119124871G>A	uc004bjn.3	+	18	4729	c.4348_splice	c.e18-1	p.G1450_splice	PAPPA_uc011lxq.2_Splice_Site_p.G825_splice	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1450	Sushi 4.				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						TGTTGTTCAGGGACTTGGGAG	0.473000														8			56		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026240	61026240	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:61026240G>A	uc001nra.3	-	19	3054	c.2775C>T	c.(2773-2775)acC>acT	p.T925T	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	925						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGAGTCTAGAGGTGGTGGGAG	0.652000														34			80		0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5433988	5433988	+	Silent	SNP	C	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:5433988C>A	uc002kmt.1	-	6	824	c.738G>T	c.(736-738)ggG>ggT	p.G246G	EPB41L3_uc010wzh.1_Silent_p.G246G|EPB41L3_uc002kmu.1_Silent_p.G246G|EPB41L3_uc010dkq.1_Silent_p.G137G|EPB41L3_uc010dks.1_Silent_p.G268G|EPB41L3_uc002kmv.1_Silent_p.G137G	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	246	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGTAATCGCTCCCACATTCAT	0.522000														49			138		1.55268e-80	1.57998e-80	1	1	0
GABRA6	2559	broad.mit.edu	37	5	161116137	161116137	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:161116137C>T	uc003lyu.2	+	3	746	c.408C>T	c.(406-408)ttC>ttT	p.F136F	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	136					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAAACTCTTCAGAATAATGC	0.363000										TCGA Ovarian(5;0.080)				2			8		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142253969	142253969	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:142253969G>A	uc003eux.4	-	20	4020	c.3898C>T	c.(3898-3900)Cgt>Tgt	p.R1300C		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1300					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCATGAATACGAACATCGACA	0.358000								Other conserved DNA damage response genes						12			24		0	0	1	0	0
BCL2L14	79370	broad.mit.edu	37	12	12232540	12232540	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:12232540G>A	uc001rac.3	+	1	502	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Missense_Mutation_p.E101K|BCL2L14_uc001rae.3_Missense_Mutation_p.E101K	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	101					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		TGGAGTAGTGGAGAAGGAAGA	0.502000														38			23		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15820735	15820735	+	Silent	SNP	C	T	T	rs113154524	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:15820735C>T	uc002ddx.3	-	28	3956	c.3849G>A	c.(3847-3849)gcG>gcA	p.A1283A	MYH11_uc002ddv.3_Silent_p.A1283A|MYH11_uc002ddw.3_Silent_p.A1276A|MYH11_uc002ddy.3_Silent_p.A1276A|MYH11_uc010bvg.3_Silent_p.A1108A|MYH11_uc010bvh.3_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1276					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	ATP binding|actin 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						CATTGAGCTCCGCCCGGGCCC	0.637000			T	CBFB	AML									63			49		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088231	92088231	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:92088231G>A	uc001xzs.1	-	18	2121	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	CATSPERB_uc010aub.1_Missense_Mutation_p.P183S	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	661					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)				CTGTACCCGGGAAGCACTACA	0.398000														13			17		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11702663	11702663	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:11702663C>T	uc002rbk.1	+	2	532	c.232C>T	c.(232-234)Cct>Tct	p.P78S	GREB1_uc002rbl.3_Missense_Mutation_p.P78S|GREB1_uc002rbm.3_5'UTR|GREB1_uc002rbn.1_Missense_Mutation_p.P78S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	78						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCCCCAAACCCTTTCCAGCT	0.597000														75			49		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117556281	117556281	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:117556281C>T	uc010oxb.1	+	3	1153	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	CD101_uc009whd.3_Silent_p.F365F|CD101_uc010oxc.1_Silent_p.F365F|CD101_uc010oxd.1_Silent_p.F303F	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	365	Ig-like C2-type 3.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAAGATCTTCTCTCTGGGCC	0.522000														4			71		0	0	1	0	0
CXCL9	4283	broad.mit.edu	37	4	76924823	76924823	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:76924823C>T	uc003hjh.1	-	3	345	c.306G>A	c.(304-306)ggG>ggA	p.G102G		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA.	102					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATGTTTTTTCCCATTCTTTT	0.348000														25			10		0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563689	56563690	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:56563689_56563690GG>AA	uc001skb.3	-	22	2431_2432	c.2325_2326CC>TT	c.(2323-2328)ccccga>ccTTga	p.R776*	SMARCC2_uc001skd.3_Nonsense_Mutation_p.R807*|SMARCC2_uc001ska.3_Nonsense_Mutation_p.R807*|SMARCC2_uc001skc.3_Nonsense_Mutation_p.R806*|SMARCC2_uc010sqf.2_Nonsense_Mutation_p.R696*	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	776	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCTCCTTCTCGGGGTTCCTGAA	0.485000														20			11		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				19			187		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42454661	42454661	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:42454661G>A	uc001zpd.3	-	22	2378	c.2227C>T	c.(2227-2229)Cgg>Tgg	p.R743W	VPS39_uc001zpc.3_Missense_Mutation_p.R732W|VPS39_uc001zpb.3_Missense_Mutation_p.R78W	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	743					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		AGGTACATCCGAAGCAGGGAC	0.587000														19			6		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77455013	77455013	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:77455013C>T	uc004ajl.1	-	4	709	c.471G>A	c.(469-471)gaG>gaA	p.E157E	TRPM6_uc004ajk.1_Silent_p.E152E|TRPM6_uc022bib.1_Silent_p.E152E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.E157E|TRPM6_uc010mpd.1_Silent_p.E157E|TRPM6_uc010mpe.1_Silent_p.E157E|TRPM6_uc004ajn.1_Silent_p.E157E	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	157					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGCTGAAAATCTCTTTAAATT	0.433000														10			58		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958486	143958486	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:143958486C>T	uc010mey.3	-	4	768	c.761G>A	c.(760-762)aGc>aAc	p.S254N	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.S183N|CYP11B1_uc003yxj.3_Missense_Mutation_p.S183N	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	183					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)	CAGGGTCAGGCTCCCCCGGGC	0.632000									Familial Hyperaldosteronism type I					21			11		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123014940	123014940	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:123014940C>T	uc003egh.2	-	16	3054	c.3054G>A	c.(3052-3054)tgG>tgA	p.W1018*	ADCY5_uc021xdd.1_Nonsense_Mutation_p.W668*|ADCY5_uc003egg.2_Nonsense_Mutation_p.W676*	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1018					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCTGCAGTTTCCAGAGGAAGT	0.642000														13			29		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47320969	47320969	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:47320969C>A	uc010gqb.3	+	6	544	c.281C>A	c.(280-282)aCa>aAa	p.T94K	PCBP3_uc002zhp.2_Missense_Mutation_p.T94K|PCBP3_uc010gqc.2_Missense_Mutation_p.T94K|PCBP3_uc002zhq.2_Missense_Mutation_p.T94K|PCBP3_uc002zhs.2_Missense_Mutation_p.T94K|PCBP3_uc002zht.2_Missense_Mutation_p.T62K	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	94	KH 1.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GTGACCATCACAGGCCCCACA	0.557000														40			31		1.61788e-16	1.62666e-16	1	1	0
MYLK	4638	broad.mit.edu	37	3	123451834	123451834	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:123451834C>T	uc003ego.3	-	10	1707	c.1425G>A	c.(1423-1425)ctG>ctA	p.L475L	MYLK_uc011bjw.2_Silent_p.L475L|MYLK_uc003egp.3_Intron|MYLK_uc003egq.3_Silent_p.L475L|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Silent_p.L299L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	475	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCGGGCTTTCAGCAGGCAGA	0.577000														32			5		0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346761	102346761	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:102346761C>T	uc010utr.2	+	0	839	c.839C>T	c.(838-840)cCc>cTc	p.P280L		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GTTATCACTCCCGTTTTGAAT	0.348000														28			23		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189061682	189061682	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:189061682G>A	uc003izm.1	+	2	524	c.409_splice	c.e2-1	p.E137_splice		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	137					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCTATTGCAGGAGAAACTCCA	0.483000														43			21		0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1532560	1532560	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:1532560C>T	uc002wfi.3	-	1	242	c.198G>A	c.(196-198)aaG>aaA	p.K66K		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	66	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GCCCTGTTCCCTTGAACCACA	0.448000														94			67		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815622	43815622	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:43815622G>A	uc001zrt.3	+	3	2418	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	651						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGTAAAGGAGGATGTGATAGA	0.473000														19			7		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897235	153897235	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:153897235C>T	uc003inf.2	+	10	2867	c.2792C>T	c.(2791-2793)cCc>cTc	p.P931L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	931					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCCCAGAATCCCCCCAGCAGC	0.677000														26			15		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53563540	53563540	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:53563540G>A	uc004dsp.3	-	78	12628	c.12226C>T	c.(12226-12228)Cct>Tct	p.P4076S	HUWE1_uc004dsn.3_Missense_Mutation_p.P2884S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	4076	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCATACATAGGGTTAAACATC	0.478000														4			28		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	26221279	26221279	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:26221279C>T	uc003xeu.3	+	7	1174	c.845C>T	c.(844-846)tCc>tTc	p.S282F	DOCK5_uc003xek.3_Missense_Mutation_p.S283F|DOCK5_uc011laf.2_Missense_Mutation_p.S292F	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	255						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)		TCATTTTTTTCCGAAATCATC	0.358000														19			16		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100806615	100806615	+	Silent	SNP	C	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:100806615C>A	uc010svi.2	+	9	1567	c.1254C>A	c.(1252-1254)tcC>tcA	p.S418S	SLC17A8_uc009ztx.3_Silent_p.S368S	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	418					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGGCTATCTCCTTTCTGGTAC	0.453000														83			38		8.20599e-20	8.2775e-20	1	1	0
GBP6	163351	broad.mit.edu	37	1	89851007	89851007	+	Silent	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:89851007A>G	uc001dnf.2	+	10	2155	c.1881A>G	c.(1879-1881)aaA>aaG	p.K627K	GBP6_uc010ost.1_Silent_p.K497K	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	627							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CACTCTTTAAAAAGCATAAGC	0.358000														7			73		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98709700	98709700	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:98709700A>G	uc002syo.3	+	1	409	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	VWA3B_uc010yvh.2_5'UTR|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.3_Missense_Mutation_p.K49E|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	49										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAAGAGCAACAAATTGACCTT	0.448000														47			23		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28909955	28909955	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:28909955C>T	uc002kwp.3	+	4	685	c.473C>T	c.(472-474)tCa>tTa	p.S158L		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	158	Cadherin 1.				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)			CCAGTGTTTTCAATGGCTACA	0.433000														66			12		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121353237	121353237	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:121353237C>T	uc003eeh.4	-	9	845	c.720G>A	c.(718-720)gcG>gcA	p.A240A	HCLS1_uc011bjj.2_Silent_p.A203A|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	240					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.A240A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ACTCAAATTTCGCCTTCAGCC	0.537000														12			39		0	0	1	0	0
TRIM14	9830	broad.mit.edu	37	9	100857228	100857228	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:100857228G>A	uc004ayd.2	-	3	639	c.621C>T	c.(619-621)ccC>ccT	p.P207P	TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Silent_p.P207P|TRIM14_uc004ayh.1_Silent_p.P207P	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	207						cytoplasm|intracellular	zinc ion binding	p.P207P(2)|p.P207L(1)		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)				AGCTCTTGACGGGCTCAAAGG	0.587000														5			67		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22272240	22272240	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:22272240C>T	uc010ecx.3	+	3	1857	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	ZNF257_uc010ecy.3_Missense_Mutation_p.S531L	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	563					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)				AAACATAATTCATAATGGAGA	0.353000														6			6		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86697660	86697660	+	Splice_Site	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:86697660G>A	uc002blz.1	+	3	205	c.125_splice	c.e3-1	p.D42_splice		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	42					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						TGTGTTCTTAGATAAAAAGAT	0.438000														7			8		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739223	119739223	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:119739223G>A	uc002tln.1	+	9	1024	c.892G>A	c.(892-894)Gga>Aga	p.G298R	MARCO_uc010yyf.1_Missense_Mutation_p.G220R	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	298	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGGAGCTAAAGGAGATCAAGG	0.433000														54			14		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48777607	48777607	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:48777607C>T	uc001zwx.2	-	29	4071	c.3676G>A	c.(3676-3678)Gga>Aga	p.G1226R		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1226	EGF-like 19; 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			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)		AGTGCAAATCCCGGCTGACAG	0.438000														50			45		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104015884	104015884	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:104015884C>T	uc001tjw.3	+	4	668	c.482C>T	c.(481-483)tCa>tTa	p.S161L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	161	EGF-like 2.				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						CCCAGCTGTTCATCAGGTATG	0.443000														25			6		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3783999	3783999	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:3783999G>A	uc002lyt.3	-	5	795	c.395C>T	c.(394-396)gCt>gTt	p.A132V	MATK_uc002lyv.3_Missense_Mutation_p.A133V|MATK_uc002lyu.3_Missense_Mutation_p.A91V|MATK_uc010dtq.3_Missense_Mutation_p.A132V	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	132	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGGACAGCCTCCTGGCC	0.692000														14			7		0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100007119	100007119	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:100007119C>T	uc003uut.3	-	8	1048	c.800G>A	c.(799-801)tGg>tAg	p.W267*	ZCWPW1_uc011kjq.2_Nonsense_Mutation_p.W147*|ZCWPW1_uc003uur.3_Nonsense_Mutation_p.W147*|ZCWPW1_uc003uus.3_Nonsense_Mutation_p.W147*|ZCWPW1_uc011kjr.2_Nonsense_Mutation_p.W267*|ZCWPW1_uc003uuu.1_Nonsense_Mutation_p.W267*|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	267							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCGCCTCCATTTCCCACA	0.433000														25			14		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143772195	143772195	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:143772195G>A	uc011ktx.2	+	0	883	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TAGGAACAAGGAAGTCCAAGG	0.413000														220			119		0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														26			3		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109099571	109099571	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:109099571G>A	uc002tec.3	+	11	3553	c.3399G>A	c.(3397-3399)aaG>aaA	p.K1133K	GCC2_uc002ted.3_Silent_p.K1032K	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1133					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.Q1132K(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACTTCAAAAGCAAAAGAAAC	0.318000														20			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067219	9067219	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9067219G>A	uc002mkp.3	-	2	20431	c.20227C>T	c.(20227-20229)Ctt>Ttt	p.L6743F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6745	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						GTAGAGCCAAGAGGAGGACCT	0.502000														108			89		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129281942	129281942	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:129281942G>A	uc003emx.2	-	25	4763	c.4663C>T	c.(4663-4665)Ccc>Tcc	p.P1555S	PLXND1_uc011blb.1_Missense_Mutation_p.P223S	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1555					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTTACCCGGGGCTTGGCCTCG	0.652000														27			16		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269390	150269390	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:150269390G>A	uc003whl.3	+	2	314	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.E92K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	78							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)		CTCATGGAAGGAAACAGAACT	0.478000														23			31		0	0	1	0	0
TAAR1	134864	broad.mit.edu	37	6	132966164	132966164	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:132966164C>T	uc003qdm.1	-	0	979	c.979G>A	c.(979-981)Gat>Aat	p.D327N		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	327						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	CTGGATGAATCTTTTTGGAAA	0.289000														10			12		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3079235	3079235	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:3079235G>A	uc002klp.3	-	33	4924	c.4590C>T	c.(4588-4590)gtC>gtT	p.V1530V	MYOM1_uc002klq.3_Silent_p.V1434V	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1530						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGCTCCATGACATACTTCC	0.453000														43			8		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41422955	41422955	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:41422955T>A	uc001rmm.1	+	22	3027	c.2914T>A	c.(2914-2916)Tac>Aac	p.Y972N	CNTN1_uc001rmn.1_Missense_Mutation_p.Y961N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	972	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGATGGAGAATACGTTGTGGA	0.448000														76			30		0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24873936	24873936	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:24873936G>A	uc003neo.1	-	2	369	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	FAM65B_uc011djs.1_Missense_Mutation_p.P94S|FAM65B_uc011dju.2_Missense_Mutation_p.P99S|FAM65B_uc003nep.3_Missense_Mutation_p.P65S|FAM65B_uc011djt.2_Missense_Mutation_p.P65S	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	65	Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCTTTGGGGGGATTGTTGTTT	0.418000														46			41		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171510670	171510670	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:171510670G>A	uc010pmg.2	+	15	4325	c.4059G>A	c.(4057-4059)agG>agA	p.R1353R	PRRC2C_uc010pmh.2_Silent_p.R330R	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	1353	Arg-rich.						protein C-terminus binding										GTGGTGGAAGGGATCCTGGAG	0.517000														3			30		0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646181	71646181	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:71646181C>T	uc003xyq.3	+	4	1178	c.644C>T	c.(643-645)tCg>tTg	p.S215L	XKR9_uc010lzd.3_Missense_Mutation_p.S83L|XKR9_uc010lze.3_Missense_Mutation_p.S215L	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	215						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACATTATTATCGTGGATGCTG	0.299000														47			10		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254293	1254293	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:1254293G>A	uc002cks.3	+	9	2534	c.2286G>A	c.(2284-2286)cgG>cgA	p.R762R	CACNA1H_uc002ckt.3_Silent_p.R762R	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	762					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCCAGCGGCGGGCACAGCAGA	0.706000														11			14		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209791952	209791952	+	Silent	SNP	G	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:209791952G>T	uc001hhg.3	-	17	3144	c.2754C>A	c.(2752-2754)gcC>gcA	p.A918A	LAMB3_uc009xco.3_Silent_p.A918A|LAMB3_uc001hhh.3_Silent_p.A918A	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	918	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCAGCCACAGGGCCAGCACGG	0.587000														7			64		2.89935e-36	2.94386e-36	1	1	0
HECW1	23072	broad.mit.edu	37	7	43503375	43503375	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:43503375C>T	uc003tid.1	+	13	3373	c.2768C>T	c.(2767-2769)gCc>gTc	p.A923V	HECW1_uc011kbi.1_Missense_Mutation_p.A889V	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	923					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						GACTCAGAAGCCGAATCTTCC	0.587000														101			48		0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215768791	215768791	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:215768791A>C	uc001hks.3	+	9	1205	c.911A>C	c.(910-912)aAt>aCt	p.N304T	KCTD3_uc001hkt.3_Missense_Mutation_p.N304T|KCTD3_uc010pub.2_Missense_Mutation_p.N202T|KCTD3_uc009xdn.3_Missense_Mutation_p.N56T	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	304						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GGAGTGTGGAATGCTGTCACT	0.398000														8			90		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296440	145296440	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:145296440G>A	uc021oul.1	+	2	397	c.362G>A	c.(361-363)cGc>cAc	p.R121H	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.R121H|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	121								p.R121H(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGCCTCCCGCTCATTGTAT	0.562000														494			8		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2795376	2795376	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:2795376G>A	uc009zdu.1	+	47	6287	c.5974G>A	c.(5974-5976)Gac>Aac	p.D1992N	CACNA1C_uc001qkc.2_Missense_Mutation_p.D1928N|CACNA1C_uc001qjz.2_Missense_Mutation_p.D1909N|CACNA1C_uc001qkd.2_Missense_Mutation_p.D1928N|CACNA1C_uc001qke.2_Missense_Mutation_p.D1898N|CACNA1C_uc001qkf.2_Missense_Mutation_p.D1917N|CACNA1C_uc009zdw.1_Missense_Mutation_p.D1950N|CACNA1C_uc001qkg.2_Missense_Mutation_p.D1915N|CACNA1C_uc001qkh.2_Missense_Mutation_p.D1917N|CACNA1C_uc001qkl.2_Missense_Mutation_p.D1957N|CACNA1C_uc001qkj.2_Missense_Mutation_p.D1944N|CACNA1C_uc001qkk.2_Missense_Mutation_p.D1909N|CACNA1C_uc001qkn.2_Missense_Mutation_p.D1909N|CACNA1C_uc001qkm.2_Missense_Mutation_p.D1969N|CACNA1C_uc001qko.2_Missense_Mutation_p.D1929N|CACNA1C_uc001qkp.2_Missense_Mutation_p.D1909N|CACNA1C_uc001qkq.2_Missense_Mutation_p.D1937N|CACNA1C_uc001qku.2_Missense_Mutation_p.D1944N|CACNA1C_uc001qkr.2_Missense_Mutation_p.D1926N|CACNA1C_uc001qks.2_Missense_Mutation_p.D1909N|CACNA1C_uc001qkt.2_Missense_Mutation_p.D1928N|CACNA1C_uc009zdv.1_Missense_Mutation_p.D1906N|CACNA1C_uc001qkb.2_Missense_Mutation_p.D1909N|CACNA1C_uc001qki.1_Missense_Mutation_p.D1716N|CACNA1C_uc010sea.1_Missense_Mutation_p.D600N|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.D227N	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1992					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)	GCGACAGAAGGACCGAGGGGG	0.572000														43			47		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761868	130761868	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:130761868G>A	uc003qcb.3	+	1	2679	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	TMEM200A_uc003qca.3_Missense_Mutation_p.E101K|TMEM200A_uc010kfh.3_Missense_Mutation_p.E101K|TMEM200A_uc010kfi.3_Missense_Mutation_p.E101K|TMEM200A_uc021zfg.1_Missense_Mutation_p.E101K	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	101						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTCAACAAATGAAACTCAGGT	0.433000														24			33		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779784	91779784	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:91779784C>T	uc010aty.3	-	14	2530	c.2376G>A	c.(2374-2376)ctG>ctA	p.L792L		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	792					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTCAGCCTCCAGCTCGCCCA	0.677000														12			13		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13914067	13914067	+	Splice_Site	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:13914067C>T	uc003jfd.2	-	11	1363	c.1321_splice	c.e11-1	p.E441_splice	DNAH5_uc003jfe.1_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	441	Stem (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)					AGCTGGTATTCCTTAAAATCA	0.303000									Kartagener syndrome					12			9		0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37387812	37387812	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:37387812G>A	uc001zjr.3	-	3	1465	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	MEIS2_uc001zjl.3_Missense_Mutation_p.R118C|MEIS2_uc010ucj.2_Missense_Mutation_p.R118C|MEIS2_uc001zjm.3_Missense_Mutation_p.R43C|MEIS2_uc001zjn.3_5'UTR|MEIS2_uc001zjo.3_Missense_Mutation_p.R131C|MEIS2_uc001zjp.3_Missense_Mutation_p.R131C|MEIS2_uc001zjs.3_Missense_Mutation_p.R131C|MEIS2_uc001zju.3_Missense_Mutation_p.R118C|MEIS2_uc001zjt.3_Missense_Mutation_p.R131C	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	131					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TTTTCGGCGCGAACCTGTAAG	0.478000														36			30		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511240	4511240	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:4511240C>T	uc002mar.1	-	2	2690	c.2690G>A	c.(2689-2691)gGg>gAg	p.G897E	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	897	27 X 33 AA approximate tandem repeat.					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						CTGGACAGTCCCTTTGGCCAA	0.607000														69			45		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362470	9362470	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9362470G>A	uc002mlb.1	+	0	751	c.751G>A	c.(751-753)Ggg>Agg	p.G251R		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AACATCAGATGGGAAGTATAA	0.443000														12			4		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149417952	149417952	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:149417952C>T	uc003wfz.3	+	3	580	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_5'Flank	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	61										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCTGCACCTCACAGCCCT	0.647000														10			3		0	0	1	0	0
TTC9C	283237	broad.mit.edu	37	11	62502996	62502996	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:62502996C>T	uc001nux.3	+	2	1032	c.780C>T	c.(778-780)gcC>gcT	p.A260A	TTC9C_uc001nuy.3_Silent_p.A127A	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	Homo sapiens tetratricopeptide repeat domain 9C (TTC9C), mRNA.	127							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						ATGACCAGGCCCGCCACTACC	0.512000														21			9		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599307	151599307	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:151599307G>A	uc003ezf.2	+	2	1081	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	326						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.E326D(1)		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)	ATGGGCTCATGAACTCCTACT	0.403000														61			20		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247684	149247684	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:149247684G>A	uc002twm.4	+	11	4781	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.E520K|MBD5_uc002twp.3_Missense_Mutation_p.E312K	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1262						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AATTCTAGAGGAAAATTTCAG	0.408000														15			10		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61571326	61571326	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:61571326C>T	uc002jau.2	+	20	3214	c.3180C>T	c.(3178-3180)atC>atT	p.I1060I	ACE_uc010wpj.2_Silent_p.I486I|ACE_uc010ddv.2_Silent_p.I287I|ACE_uc002jav.2_Silent_p.I486I|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.I306I	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1060	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTGACAAGATCGCCTTTATCC	0.547000														7			35		0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111670604	111670604	+	Missense_Mutation	SNP	G	A	A	rs139472133		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:111670604G>A	uc004bdm.4	-	12	1961	c.1441C>T	c.(1441-1443)Cat>Tat	p.H481Y	IKBKAP_uc004bdl.3_Missense_Mutation_p.H132Y|IKBKAP_uc011lwc.2_Missense_Mutation_p.H367Y|IKBKAP_uc010mtq.3_Missense_Mutation_p.H132Y	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	481					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTTTCCAAATGAGGAGTTCTA	0.423000														0			27		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68008659	68008659	+	Silent	SNP	T	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:68008659T>C	uc001xjl.1	+	1	217	c.75T>C	c.(73-75)ctT>ctC	p.L25L		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	25						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AAACTCAGCTTTTCCGGTTCC	0.567000														6			4		0	0	1	0	0
MIR129-1	406917	broad.mit.edu	37	7	127847972	127847972	+	RNA	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:127847972G>A	uc011koi.2	+	0		c.48G>A								Homo sapiens microRNA 129-1 (MIR129-1), microRNA.																		CAGTAGTCAGGAAGCCCTTAC	0.587000														14			4		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725806	55725806	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:55725806G>A	uc010spj.2	+	0	322	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T107I(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GGGGGTGACTGAATTTTACAT	0.428000														38			44		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714431	183714431	+	Silent	SNP	G	A	A	rs140050384	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:183714431G>A	uc003ivd.1	+	24	6681	c.6606G>A	c.(6604-6606)acG>acA	p.T2202T		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2202					signal transduction	integral to membrane		p.T2202M(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AAAGGGGCACGGAAATCTTTG	0.502000														38			46		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38591903	38591903	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:38591903T>A	uc021wvo.1	-	26	6012	c.5960A>T	c.(5959-5961)aAc>aTc	p.N1987I	SCN5A_uc021wvk.1_Missense_Mutation_p.N1954I|SCN5A_uc021wvl.1_Missense_Mutation_p.N1933I|SCN5A_uc021wvm.1_Missense_Mutation_p.N1969I|SCN5A_uc021wvn.1_Missense_Mutation_p.N1986I|SCN5A_uc021wvp.1_Missense_Mutation_p.N1987I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.N1799I|SCN5A_uc021wvi.1_Missense_Mutation_p.N1853I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1987					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	p.D1986N(1)		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)	CACCTGGAGGTTATCGCTGGT	0.617000														33			42		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7063791	7063791	+	Silent	SNP	C	T	T	rs138061199	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:7063791C>T	uc001mfb.1	+	3	857	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	178	NACHT.				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)		AGCCACAGATCGTGGTGCTTC	0.473000														33			63		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105800141	105800141	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:105800141G>A	uc001kxr.3	-	39	2898	c.2729C>T	c.(2728-2730)cCa>cTa	p.P910L		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	910	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)		GGGGCCAGGTGGGCCTGGGGG	0.547000														10			54		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584972	30584972	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:30584972G>A	uc002wxe.3	+	2	1626	c.1452G>A	c.(1450-1452)cgG>cgA	p.R484R		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	484						integral to membrane		p.R484W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTGCTGAGCGGGATGGGGCCT	0.687000														46			30		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477763	88477763	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:88477763G>A	uc021rxh.1	+	0	572	c.572G>A	c.(571-573)gGc>gAc	p.G191D	GPR65_uc001xvv.3_Missense_Mutation_p.G191D	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	191					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						ACGTGTACAGGCTATGCAATA	0.418000														21			27		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30671804	30671804	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:30671804A>C	uc002wxh.3	+	6	877	c.640A>C	c.(640-642)Agc>Cgc	p.S214R	HCK_uc010gdy.3_Missense_Mutation_p.S194R|HCK_uc021wbv.1_Missense_Mutation_p.S193R|HCK_uc002wxi.3_Missense_Mutation_p.S192R	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	214	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATCCCCCCGAAGCACCTTCAG	0.587000														45			37		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544534	53544534	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:53544534G>A	uc001cuv.3	+	7	1664	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	PODN_uc010onr.2_Missense_Mutation_p.R480Q|PODN_uc010ons.2_Missense_Mutation_p.R357Q|PODN_uc001cuw.3_Missense_Mutation_p.R480Q	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	451					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCTGCCTCGAAATGTCCAT	0.672000														2			38		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2776303	2776303	+	Silent	SNP	C	T	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:2776303C>T	uc002wgu.3	-	10	1736	c.1662G>A	c.(1660-1662)caG>caA	p.Q554Q	CPXM1_uc010gas.3_Intron	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	554					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGGAGAAGTCCTGGCTGTGGC	0.627000														39			39		0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4523769	4523769	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:4523769G>A	uc002mas.3	-	7	1216	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	388						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GTCGGGCAGGGGCTCGGGTCG	0.736000														31			23		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136373	55136373	+	Silent	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:55136373G>A	uc010rif.2	+	0	1014	c.1014G>A	c.(1012-1014)ggG>ggA	p.G338G		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	338					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G338G(2)|p.A337G(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCTTAGCTGGGAAATGGCTGT	0.368000														31			47		0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957893	35957893	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:35957893G>A	uc011lpi.2	-	0	259	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GTCCAGGAAGGAGAGGTTCCC	0.562000														2			22		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916445	42916445	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:42916445delC	uc003cmh.3	-	0	1189	c.864delG	c.(862-864)gggfs	p.G288fs	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	288					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	p.T287K(1)		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)		AAGAGGTAGGCCCCGTGTTCC	0.592													---	8	---	---	11	---					
PAPLN	89932	broad.mit.edu	37	14	73716721	73716721	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:73716721delC	uc010ttx.2	+	4	527	c.364delC	c.(364-366)cccfs	p.P122fs	PAPLN_uc001xnw.4_Frame_Shift_Del_p.P122fs|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Frame_Shift_Del_p.P122fs	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	122						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GAACTGCATTCCCAAGGGGGA	0.582													---	17	---	---	8	---					
RYR3	6263	broad.mit.edu	37	15	33952614	33952614	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:33952614delG	uc001zhi.3	+	33	4682	c.4612delG	c.(4612-4614)gagfs	p.E1538fs	RYR3_uc010bar.3_Frame_Shift_Del_p.E1538fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1538	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCACATCCCCGAGGAGAACAG	0.652													---	4	---	---	2	---					
SEC14L5	9717	broad.mit.edu	37	16	5061218	5061219	+	Frame_Shift_Ins	INS	-	G	G	rs148186772	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:5061218_5061219insG	uc002cye.2	+	14	2103_2104	c.1923_1924insG	c.(1921-1926)cccgggfs	p.P641fs		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	641	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGCACAGCCCCGGGCCCAAGTG	0.663													---	30	---	---	16	---					
DDX3X	1654	broad.mit.edu	37	X	41200787	41200787	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:41200787delG	uc004dfe.3	+	3	1057	c.202delG	c.(202-204)gcgfs	p.A68fs	DDX3X_uc010nhf.1_Frame_Shift_Del_p.A52fs|DDX3X_uc011mks.2_Frame_Shift_Del_p.A68fs|DDX3X_uc004dff.3_Frame_Shift_Del_p.A68fs|DDX3X_uc011mkq.2_Frame_Shift_Del_p.A52fs|DDX3X_uc011mkr.2_Frame_Shift_Del_p.A68fs|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	68					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein 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						AGATAAGGATGCGTATAGCAG	0.363										HNSCC(61;0.18)			---	4	---	---	31	---					
