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
LAMC3	10319	broad.mit.edu	37	9	133967055	133967055	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:133967055C>T	uc004caa.1	+	27	4707	c.4609C>T	c.(4609-4611)Cag>Tag	p.Q1537*	LAMC3_uc010mze.1_Nonsense_Mutation_p.Q225*	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1537	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCAGGAATCCCAGCAGCAGGA	0.627000														9			3		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463194	26463194	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:26463194G>A	uc001isn.2	+	29	4361	c.4001G>A	c.(4000-4002)aGg>aAg	p.R1334K	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1334					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R1334M(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTCAAAGAGAGGCAAGTTGAA	0.502000														63			40		0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246696	80246696	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:80246696C>T	uc003hlt.4	-	0	476	c.336G>A	c.(334-336)agG>agA	p.R112R	NAA11_uc021xpl.1_Silent_p.R112R	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	112	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						GGTTACTCTTCCTGACGTGCA	0.517000														14			16		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296694	29296694	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:29296694C>T	uc002rmt.2	-	0	434	c.434G>A	c.(433-435)tGg>tAg	p.W145*		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	145					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGTCCTTTTCCATTTGGAAGT	0.493000														94			60		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67713640	67713640	+	Missense_Mutation	SNP	G	A	A	rs140529181		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:67713640G>A	uc002aqo.2	+	15	2327	c.2230G>A	c.(2230-2232)Gaa>Aaa	p.E744K	IQCH_uc002aqp.2_Missense_Mutation_p.E405K|IQCH_uc002aqq.2_Missense_Mutation_p.E401K|LOC100506686_uc002aqr.2_Intron|LOC100506686_uc021spf.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	744										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GGGTGTGATCGAAGCATTCCC	0.507000														13			16		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771361	143771361	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:143771361C>T	uc011ktx.2	+	0	49	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	17					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)					ACTGGGATTTCCCATTGGCCC	0.488000														70			44		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135756509	135756509	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:135756509C>T	uc002tue.1	-	4	404	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	YSK4_uc010fne.1_Missense_Mutation_p.E97K|YSK4_uc002tuf.1_Missense_Mutation_p.E125K|YSK4_uc010fnc.1_Missense_Mutation_p.E125K|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Missense_Mutation_p.E125K|YSK4_uc002tui.4_Missense_Mutation_p.E142K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	125							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTTTCTATTTCATTTGGATGA	0.443000														56			34		0	0	1	0	0
GK	2710	broad.mit.edu	37	4	166199637	166199637	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:166199637C>T	uc003ird.3	-	0	1539	c.1161G>A	c.(1159-1161)acG>acA	p.T387T	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	393					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						GGCATTTATTCGTGAATTGAG	0.448000														75			11		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588632	20588632	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:20588632C>T	uc001ytg.3	-	26	4138	c.3429G>A	c.(3427-3429)atG>atA	p.M1143I	HERC2P3_uc010tyx.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACACTGAGTTCATTCTTCTTA	0.408000														110			15		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140275450	140275450	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:140275450C>T	uc003etn.3	+	10	1960	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	CLSTN2_uc003etm.2_Silent_p.S590S	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	590					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACATCAACTCCAGGCAGTTCC	0.567000										HNSCC(16;0.037)				52			36		0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155148412	155148412	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:155148412T>G	uc001fhs.1	+	2	457	c.374T>G	c.(373-375)gTg>gGg	p.V125G	KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Missense_Mutation_p.V112G|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.V125G|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_5'UTR|TRIM46_uc001fhu.1_Missense_Mutation_p.V102G|TRIM46_uc009wpg.1_Missense_Mutation_p.V112G|TRIM46_uc009wpf.2_3'UTR|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	125						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACCCCCAAGTGATCATGTTC	0.612000														24			271		0	0	1	0	0
SYP	6855	broad.mit.edu	37	X	49054237	49054237	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:49054237A>C	uc004dmz.1	-	2	180	c.164T>G	c.(163-165)gTg>gGg	p.V55G	SYP_uc011mmz.1_Intron	NM_003179	NP_003170	P08247	SYPH_HUMAN	Homo sapiens synaptophysin (SYP), mRNA.	55	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GGCACAATCCACGCTCAGCTG	0.597000														11			7		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511660	130511660	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:130511660G>A	uc004bsc.3	-	4	1111	c.969C>T	c.(967-969)ttC>ttT	p.F323F	SH2D3C_uc010mxo.3_Silent_p.F163F|SH2D3C_uc004bry.3_Silent_p.F165F|SH2D3C_uc004brz.4_5'UTR|SH2D3C_uc011mak.2_5'UTR|SH2D3C_uc004bsb.3_Silent_p.F255F|SH2D3C_uc004bsa.3_Silent_p.F166F	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	323					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCGCAGTGGGAAGGTGCGGT	0.647000														29			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587962	179587962	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:179587962G>A	uc021vsy.1	-	71	18265	c.18040C>T	c.(18040-18042)Cca>Tca	p.P6014S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2675S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6941	Ig-like 41.						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)			ACAGAAATTGGAAGTGTTCCA	0.373000														32			27		0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207236005	207236005	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:207236005C>T	uc001hfg.3	+	3	361	c.252C>T	c.(250-252)tcC>tcT	p.S84S	PFKFB2_uc010psc.2_5'UTR|PFKFB2_uc001hfh.3_Silent_p.S84S|PFKFB2_uc009xcc.3_Silent_p.S42S|PFKFB2_uc010psd.2_5'Flank	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	84	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CAGTCAAGTCCTATAAGTCCT	0.468000														42			275		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784168	151784168	+	Silent	SNP	G	A	A	rs141055680	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:151784168G>A	uc003luv.2	-	0	673	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	169					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.G168S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGCCCCAGACGATGCCGAGGA	0.642000														50			37		0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28892329	28892329	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:28892329G>A	uc002dro.1	+	3	497	c.313G>A	c.(313-315)Ggg>Agg	p.G105R	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.G105R|ATP2A1_uc002drp.1_5'UTR	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	105					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGCCATCGTGGGGGTTTGGCA	0.547000														37			25		0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38271929	38271929	+	Nonsense_Mutation	SNP	C	T	T	rs11551380		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:38271929C>T	uc003auf.3	+	9	1066	c.988C>T	c.(988-990)Cag>Tag	p.Q330*	EIF3L_uc011ann.2_Nonsense_Mutation_p.Q282*|EIF3L_uc003aug.3_Nonsense_Mutation_p.Q222*	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	330						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCGTCGTTACCAGGATGCCAT	0.498000														17			50		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	391186	391186	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:391186C>T	uc003bot.3	+	9	1635	c.993C>T	c.(991-993)ttC>ttT	p.F331F	CHL1_uc003bou.3_Silent_p.F315F|CHL1_uc003bow.2_Silent_p.F315F|CHL1_uc011asi.2_Silent_p.F331F	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	315	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCAGCAATTTCTTGGGAACAG	0.393000														83			61		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47264800	47264800	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:47264800G>A	uc001cqn.4	+	0	131	c.47G>A	c.(46-48)tGg>tAg	p.W16*	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Nonsense_Mutation_p.W16*|CYP4B1_uc009vym.3_Nonsense_Mutation_p.W16*|CYP4B1_uc010omk.2_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	16					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTGGGCCTGTGGGCTTCTGGG	0.582000														5			18		0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905163	144905163	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:144905163G>A	uc022cfn.1	+	0	1220	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	SLITRK2_uc004fcd.3_Missense_Mutation_p.G407E|SLITRK2_uc010nsp.3_Missense_Mutation_p.G407E|SLITRK2_uc010nso.3_Missense_Mutation_p.G407E|SLITRK2_uc011mwq.2_Missense_Mutation_p.G407E|SLITRK2_uc011mwr.2_Missense_Mutation_p.G407E|SLITRK2_uc011mws.2_Missense_Mutation_p.G407E|SLITRK2_uc004fcg.3_Missense_Mutation_p.G407E|SLITRK2_uc011mwt.2_Missense_Mutation_p.G407E	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	407						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCACTTAGGAAACAACAGG	0.418000														83			54		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234106777	234106777	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:234106777C>T	uc010zmo.2	+	23	2796	c.2643C>T	c.(2641-2643)atC>atT	p.I881I	INPP5D_uc010zmp.2_Silent_p.I880I	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	910					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCACTGAAATCATCAACCCCA	0.627000														12			14		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98408561	98408561	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:98408561C>T	uc001kmq.3	-	6	1168	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	PIK3AP1_uc001kmp.3_Missense_Mutation_p.G169E	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	347						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)		GTTCTTCAGTCCATACTTCGC	0.502000														14			10		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339322	79339322	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:79339322C>T	uc002beq.3	-	4	1019	c.644G>A	c.(643-645)gGc>gAc	p.G215D	RASGRF1_uc002bep.3_Missense_Mutation_p.G215D|RASGRF1_uc010blm.1_Missense_Mutation_p.G137D|RASGRF1_uc002ber.4_Missense_Mutation_p.G215D	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	215	IQ.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.R214Q(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCACAGCCAGCCCCGCAGGAA	0.617000														22			16		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960801	73960801	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:73960801C>T	uc004eby.3	-	2	4208	c.3591G>A	c.(3589-3591)agG>agA	p.R1197R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1197					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						GGGATTTTTTCCTGGTGTTTT	0.428000														58			35		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416126	82416126	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:82416126G>A	uc001dit.4	+	6	1633	c.1452G>A	c.(1450-1452)agG>agA	p.R484R	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.R484R|LPHN2_uc001div.3_Silent_p.R484R|LPHN2_uc009wcd.3_Silent_p.R484R|LPHN2_uc001diw.3_Silent_p.R55R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	484					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R484R(3)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGACACAAAGGGGAATGATGG	0.393000														48			29		0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10102582	10102582	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:10102582G>A	uc004csx.4	+	18	2907	c.2709G>A	c.(2707-2709)acG>acA	p.T903T	WWC3_uc010nds.3_Silent_p.T567T|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	903										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGAGTGGCACGATTGTCCGTT	0.552000														86			63		0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34240839	34240839	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:34240839G>A	uc021wcr.1	-	0	2406	c.2406C>T	c.(2404-2406)ccC>ccT	p.P802P	CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Silent_p.P802P|RBM12_uc002xds.3_Silent_p.P802P|RBM12_uc002xdr.3_Silent_p.P802P|RBM12_uc021wcq.1_Silent_p.P802P	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	802	Gly-rich.|Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAAACCCCGGGGGACCGCCTA	0.632000														31			22		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26446413	26446413	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:26446413C>T	uc001isn.2	+	25	3328	c.2968C>T	c.(2968-2970)Cat>Tat	p.H990Y	MYO3A_uc009xko.1_Missense_Mutation_p.H990Y|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	990	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGGATTCTCCCATCGGATACT	0.353000														47			26		0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118209899	118209899	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:118209899C>T	uc001pss.1	-	4	631	c.494G>A	c.(493-495)gGa>gAa	p.G165E	CD3D_uc001pst.1_Missense_Mutation_p.G121E|CD3D_uc021qrf.1_Missense_Mutation_p.G92E	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	165	ITAM.				T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGCCCAGTTTCCTCCAAGGTG	0.502000														14			44		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145094817	145094817	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:145094817C>T	uc011lkw.2	+	1	321	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SPATC1_uc011lkx.2_Silent_p.F73F	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	73	Necessary for targeting centrosomes (By similarity).							p.T73T(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTGTCTTCCTGCCCCCGT	0.632000														18			26		0	0	1	0	0
FABP9	646480	broad.mit.edu	37	8	82371429	82371429	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:82371429C>T	uc011lfo.2	-	1	217	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	Homo sapiens fatty acid binding protein 9, testis (FABP9), mRNA.	73							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			GCTGTAGTTTCATCAAATTCT	0.398000														43			63		0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68664015	68664016	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:68664015_68664016GG>AA	uc010rqe.1	-	3	388_389	c.363_364CC>TT	c.(361-366)gacctt>gaTTtt	p.L122F	MRPL21_uc001ooh.3_Missense_Mutation_p.L37F|MRPL21_uc001ooi.3_Missense_Mutation_p.L122F	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	122					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCACACGCAAGGTCTAGTTCAT	0.535000														390			53		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151896630	151896630	+	RNA	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:151896630G>A	uc004fgb.3	-	2		c.359C>T						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTCACCAGACCAGTGTCT	0.557000														102			73		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547936	113547936	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:113547936G>A	uc022blv.1	+	12	1850	c.1716G>A	c.(1714-1716)agG>agA	p.R572R	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Silent_p.R483R|MUSK_uc022blu.1_Silent_p.R473R	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	572					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGTATCCAAGGAATAACATTG	0.443000														87			44		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595316	179595316	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:179595316C>T	uc021vsy.1	-	57	14437	c.14212G>A	c.(14212-14214)Gaa>Aaa	p.E4738K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1399K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5665	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGTACCTTCCAGCTGGCTG	0.423000														65			50		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30900213	30900213	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:30900213C>T	uc009yjk.1	-	25	3683	c.3614G>A	c.(3613-3615)cGa>cAa	p.R1205Q	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.R864Q|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CTGCTGCCTTCGGATTCTGGC	0.413000														28			16		0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66638416	66638416	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:66638416C>T	uc001sth.3	+	8	1140	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	IRAK3_uc010ssy.2_Silent_p.I285I	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	346	Protein kinase.				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)		AAGAGTACATCAGACAGGGGA	0.433000														52			44		0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122808133	122808134	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:122808133_122808134CC>TT	uc003egc.2	+	1	317_318	c.161_162CC>TT	c.(160-162)tcc>tTT	p.S54F	PDIA5_uc003egd.2_Non-coding_Transcript	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	54					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GTGCTTTACTCCAAATCTGGTG	0.515000														72			44		0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246563	80246563	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:80246563C>T	uc003hlt.4	-	0	609	c.469G>A	c.(469-471)Gag>Aag	p.E157K	NAA11_uc021xpl.1_Missense_Mutation_p.E157K	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	157						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						CGTCTCAGCTCATCTGCCATC	0.507000														29			3		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131593385	131593385	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:131593385G>A	uc010tbm.2	+	18	2659	c.2100G>A	c.(2098-2100)gaG>gaA	p.E700E	GPR133_uc001uit.4_Silent_p.E668E|GPR133_uc009zyo.3_Intron|GPR133_uc001uiv.1_Silent_p.E187E|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	668					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTGGGTCGGAGGACAGCAAGC	0.607000														59			40		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21975243	21975243	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:21975243C>T	uc010iuc.2	-	2	941	c.483G>A	c.(481-483)ttG>ttA	p.L161L	CDH12_uc011cno.1_Silent_p.L161L|CDH12_uc003jgk.2_Silent_p.L161L	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	161	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAGGTCCATCCAAAAACTTTG	0.418000										HNSCC(59;0.17)				92			52		0	0	1	0	0
ATG16L2	89849	broad.mit.edu	37	11	72535155	72535155	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:72535155A>G	uc001otd.3	+	7	915	c.875A>G	c.(874-876)aAg>aGg	p.K292R	ATG16L2_uc010rrf.1_3'UTR|ATG16L2_uc001ote.3_Missense_Mutation_p.K186R|ATG16L2_uc009ytj.2_Intron	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	292					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)			GATGTGGTGAAGGGGCTTCTG	0.587000														348			58		0	0	1	0	0
CHCHD1	118487	broad.mit.edu	37	10	75542922	75542922	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:75542922C>T	uc001jvc.4	+	2	360	c.334C>T	c.(334-336)Cct>Tct	p.P112S	CHCHD1_uc001jvb.2_3'UTR|KIAA0913_uc009xrk.1_5'Flank|KIAA0913_uc001jve.3_5'Flank|KIAA0913_uc009xrl.3_5'Flank|KIAA0913_uc001jvj.3_5'Flank|KIAA0913_uc001jvf.3_5'Flank	NM_203298	NP_976043	Q96BP2	CHCH1_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 1 (CHCHD1), mRNA.	112						nucleus				breast(1)	1	Prostate(51;0.0112)					ACAGAGGTTTCCTAACAAACC	0.388000														33			35		0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98257818	98257818	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:98257818C>T	uc003upl.2	+	4	1350	c.1173C>T	c.(1171-1173)atC>atT	p.I391I		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	391	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTCAACATCGCCAACTGCT	0.577000														10			10		0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149787595	149787595	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:149787595C>T	uc004fef.4	+	5	503	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.P106S|MTM1_uc011mxz.2_Missense_Mutation_p.P28S|MTM1_uc010nte.3_Missense_Mutation_p.P11S	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	143					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATACGCGTTTCCCCTGGCTCA	0.517000														47			34		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440328	124440328	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:124440328C>T	uc010san.2	+	0	364	c.364C>T	c.(364-366)Ctt>Ttt	p.L122F		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CTACTTCTTCCTTGTTTTTGT	0.463000														13			27		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81675205	81675205	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:81675205C>T	uc001szo.2	-	26	3204	c.3043G>A	c.(3043-3045)Gct>Act	p.A1015T	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.A914T|PPFIA2_uc021rbh.1_Missense_Mutation_p.A910T|PPFIA2_uc021rbi.1_Missense_Mutation_p.A1009T|PPFIA2_uc021rbj.1_Missense_Mutation_p.A994T|PPFIA2_uc021rbk.1_Missense_Mutation_p.A1000T|PPFIA2_uc021rbl.1_Missense_Mutation_p.A1015T|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.A551T|PPFIA2_uc021rbf.1_Missense_Mutation_p.A201T	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	914										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTCCATAAGCCAGGGTCTGT	0.373000														59			29		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897983	36897983	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:36897983C>T	uc003cgj.3	-	11	3346	c.3098G>A	c.(3097-3099)cGa>cAa	p.R1033Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1033					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						AGTGCCACTTCGCCCAATAAG	0.557000														52			39		0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149699271	149699271	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:149699271C>T	uc003qmj.3	+	2	398	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	TAB2_uc011eec.2_Missense_Mutation_p.H42Y|TAB2_uc010kia.1_Missense_Mutation_p.H74Y|TAB2_uc010kib.2_Missense_Mutation_p.H74Y|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	74					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|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|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TCTACGCAATCACATGACTTC	0.423000														50			31		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211512710	211512710	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:211512710C>T	uc010fur.3	+	26	3365	c.3283C>T	c.(3283-3285)Cgc>Tgc	p.R1095C	CPS1_uc002vee.4_Missense_Mutation_p.R1089C|CPS1_uc010fus.3_Missense_Mutation_p.R638C	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1089	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.V1095I(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGCTGAGGATCGCTCCATCTT	0.488000														51			39		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656738	8656738	+	Silent	SNP	G	A	A	rs147694025	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:8656738G>A	uc002mkj.1	-	14	2017	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	ADAMTS10_uc002mki.1_Missense_Mutation_p.S72L|ADAMTS10_uc002mkk.1_Silent_p.I213I	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	581	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACTTGCCCCCGATGGTTGGCC	0.652000														39			32		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106160654	106160654	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:106160654G>A	uc001kyh.3	+	12	2166	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	678										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TAATGTTGAAGAACTCAGGTA	0.468000														34			24		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391690	139391690	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:139391690G>A	uc004chz.3	-	33	6501	c.6501C>T	c.(6499-6501)gcC>gcT	p.A2167A		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2167					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.S2163_T2283del(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCTTCCACAGGCCAGGCCTT	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				55			21		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18658873	18658873	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:18658873A>C	uc003wza.3	-	6	2033	c.1930T>G	c.(1930-1932)Tct>Gct	p.S644A	PSD3_uc003wyy.3_Missense_Mutation_p.S110A|PSD3_uc003wyz.3_5'UTR	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	644	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCCACAAGAGAGAATGCTTTA	0.299000														9			15		0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510137	4510137	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:4510137C>T	uc001lza.2	+	0	29	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGCCATGCTTCCCTCTAATAT	0.433000														50			39		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284112	223284112	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:223284112G>A	uc021pjl.1	-	0	2262	c.2262C>T	c.(2260-2262)atC>atT	p.I754I	TLR5_uc001hnv.2_Silent_p.I754I|TLR5_uc001hnw.2_Silent_p.I754I	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	754	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CAAGACAAACGATCTTTCTAC	0.468000														10			15		0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	T	T	rs28933406		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:533875G>T	uc001lpv.3	-	2	369	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TACTCCTCCTGGCCGGCGGTA	0.597000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)				46			33		4.74835e-14	4.7649e-14	1	1	0
OR51G1	79324	broad.mit.edu	37	11	4944756	4944756	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:4944756G>A	uc010qyr.2	-	0	814	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTACAACGCGGGGCAGATGT	0.498000														58			40		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024497	147024497	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:147024497G>A	uc010jgo.1	-	4	1147	c.999C>T	c.(997-999)ctC>ctT	p.L333L	JAKMIP2_uc003loq.1_Silent_p.L333L|JAKMIP2_uc011dbx.1_Silent_p.L291L|JAKMIP2_uc003lor.1_Silent_p.L333L|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	333						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCTTGGCGAGGCACTTGT	0.433000														77			44		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53571458	53571458	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:53571458G>A	uc003xre.4	-	12	2326	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	RB1CC1_uc003xrf.4_Missense_Mutation_p.P590S	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	590					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACTTCCGAAGGACAAAATGAT	0.318000														14			5		0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112839005	112839005	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:112839005C>T	uc001kzo.3	+	0	2216	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S		NM_000681	NP_000672	P08913	ADA2A_HUMAN	Homo sapiens adrenergic, alpha-2A-, receptor (ADRA2A), mRNA.	402					Rho protein signal transduction|actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	TCGGGTGCTCCGTGCCACGCA	0.577000														67			37		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108013926	108013926	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:108013926C>T	uc001tmk.1	+	10	3137	c.2616C>T	c.(2614-2616)atC>atT	p.I872I	BTBD11_uc009zut.1_Silent_p.I753I|BTBD11_uc001tmj.3_Silent_p.I872I|BTBD11_uc001tml.1_Silent_p.I409I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	872						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGTTTGAGATCCTGAAAGCGA	0.512000														39			25		0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	98761974	98761974	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:98761974G>A	uc003htt.2	-	8	1244	c.1154C>T	c.(1153-1155)tCt>tTt	p.S385F		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	385								p.A384S(1)		cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		ACTAAGAAAAGAGGCATGTTT	0.403000														58			7		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142269130	142269130	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:142269130G>A	uc003eux.4	-	13	2942	c.2820C>T	c.(2818-2820)tcC>tcT	p.S940S		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	940					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						TAGAGTGAAGGGATTCTACCA	0.383000								Other conserved DNA damage response genes						49			41		0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31012260	31012260	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:31012260G>A	uc010cad.2	-	3	381	c.269C>T	c.(268-270)tCc>tTc	p.S90F	STX1B_uc010vfd.2_Missense_Mutation_p.S90F	NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	90					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	SNAP receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TTTCAATTTGGACCGAACCTT	0.562000														46			33		0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23634547	23634548	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:23634547_23634548GG>AA	uc001wiz.3	-	2	1180_1181	c.454_455CC>TT	c.(454-456)ccc>TTc	p.P152F	SLC7A8_uc010akj.3_Missense_Mutation_p.P152F	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	152					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GAAGCAGGTGGGGAAGAGCGGC	0.559000														1			5		0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184692968	184692968	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:184692968T>A	uc010pom.2	-	7	1031	c.770A>T	c.(769-771)gAt>gTt	p.D257V	EDEM3_uc010pok.2_Missense_Mutation_p.D257V|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_Missense_Mutation_p.D180V	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	257					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.L257F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGAGAAAATCAAGAGCTTT	0.323000														39			6		0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190158117	190158117	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:190158117G>A	uc003fsj.2	-	3	287	c.220C>T	c.(220-222)Cag>Tag	p.Q74*		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Homo sapiens transmembrane protein 207 (TMEM207), mRNA.	74						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		AGCCAGCACTGGAGGCAGAGG	0.517000														20			21		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661102	4661102	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:4661102G>A	uc010qyk.2	+	0	158	c.82G>A	c.(82-84)Ggt>Agt	p.G28S		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTTTGGTGGGTATCCCTGG	0.512000														61			54		0	0	1	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528539	77528539	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:77528539G>A	uc022bzh.1	-	0	705	c.705C>T	c.(703-705)atC>atT	p.I235I	CYSLTR1_uc004edb.3_Silent_p.I235I|CYSLTR1_uc010nma.3_Silent_p.I235I|CYSLTR1_uc010nmb.3_Silent_p.I235I	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	235					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TCACGACCATGATCATTCCTA	0.318000														45			26		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155764506	155764506	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:155764506C>T	uc003qqm.3	-	4	490	c.387G>A	c.(385-387)tgG>tgA	p.W129*		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	129	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGGACTGGCTCCAGTGGTAGC	0.582000														21			18		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38881630	38881630	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:38881630G>A	uc021yzh.1	+	66	9974	c.9865G>A	c.(9865-9867)Gat>Aat	p.D3289N	DNAH8_uc003ooe.2_Missense_Mutation_p.D3072N|LOC100131047_uc003oof.2_Intron	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						TAAAGGTCTTGATAAACTAAT	0.368000														6			41		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475116	140475116	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:140475116C>T	uc003lil.3	+	0	880	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	248					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAAAGCTGCTCTATGAGGT	0.542000														43			27		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940435	144940435	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:144940435G>A	uc003zaa.1	-	0	7000	c.6987C>T	c.(6985-6987)ctC>ctT	p.L2329L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2329						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGGACGATGAGGTCCTTCT	0.697000														176			21		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26890604	26890604	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:26890604G>A	uc003jgs.1	-	7	1492	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	CDH9_uc011cnv.1_Silent_p.F34F	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	441	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTTCAAAGTGAAAATAGAAC	0.428000														59			37		0	0	1	0	0
HAMP	57817	broad.mit.edu	37	19	35775910	35775910	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:35775910C>T	uc002nyw.3	+	2	291	c.220C>T	c.(220-222)Cat>Tat	p.H74Y		NM_021175	NP_066998	P81172	HEPC_HUMAN	Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA.	74					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGGCTGCTGTCATCGATCAAA	0.562000														63			30		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373133	86373133	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:86373133C>T	uc010sum.2	-	5	1602	c.1443G>A	c.(1441-1443)agG>agA	p.R481R	MGAT4C_uc001tal.4_Silent_p.R457R|MGAT4C_uc001taj.4_Silent_p.R457R|MGAT4C_uc001tak.4_Silent_p.R457R|MGAT4C_uc001tai.4_Silent_p.R457R|MGAT4C_uc001tah.4_Silent_p.R457R	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	457					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGACATATATCCTCATACAAT	0.313000														26			20		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718824	142718824	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:142718824G>A	uc022cfm.1	-	0	101	c.101C>T	c.(100-102)tCa>tTa	p.S34L	SLITRK4_uc022cfl.1_Missense_Mutation_p.S34L|SLITRK4_uc004fbx.3_Missense_Mutation_p.S34L|SLITRK4_uc004fby.3_Missense_Mutation_p.S34L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	34						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCTCAACTGACACGCAGGA	0.408000														44			27		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119925542	119925542	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:119925542C>T	uc001ehr.1	+	2	268	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	HAO2_uc001ehq.1_Missense_Mutation_p.R46C	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	46	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.R46H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GCACAGAATTCGCCTCCGTCC	0.552000														3			24		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921625	24921625	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:24921625G>A	uc001ywo.3	+	0	1085	c.611G>A	c.(610-612)aGc>aAc	p.S204N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	204					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TTCAGATGCAGCCCTGGGCCT	0.602000														22			19		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675788	7675788	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:7675788C>T	uc002mgu.4	+	9	1202	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A	CAMSAP3_uc002mgv.4_Silent_p.A340A	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	340					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCACTGAGGCCTCCCCACCTC	0.682000														24			26		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20376823	20376823	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:20376823G>A	uc002dhc.1	-	8	1379	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	386					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACCAGTCCCTGGTCCCAGTAT	0.448000														82			55		0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	482759	482759	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:482759A>T	uc003jbe.2	-	6	1372	c.1260T>A	c.(1258-1260)ttT>ttA	p.F420L	SLC9A3_uc011clx.1_Missense_Mutation_p.F420L	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	420						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCACCAGGGCAAAGGCCACGG	0.597000														23			12		0	0	1	0	0
NRIP2	83714	broad.mit.edu	37	12	2944088	2944088	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:2944088C>T	uc001qlc.3	-	0	134	c.62G>A	c.(61-63)aGc>aAc	p.S21N	NRIP2_uc010sed.1_Missense_Mutation_p.S21N|LOC100507424_uc021qtc.1_5'Flank	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	Homo sapiens nuclear receptor interacting protein 2 (NRIP2), mRNA.	21					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTGTCCCGTGCTGCAGCTCTC	0.592000														27			18		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15538162	15538162	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:15538162G>A	uc002nbc.3	-	3	1257	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	WIZ_uc002nba.4_Missense_Mutation_p.R279W|WIZ_uc002nbb.4_Missense_Mutation_p.R238W	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1095						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCACCAGGCCGAGACTGGGTC	0.667000														21			13		0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192517264	192517264	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:192517264G>A	uc011bsp.2	-	1	708	c.387C>T	c.(385-387)gaC>gaT	p.D129D		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	129										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTGATTACGGTCATGCAGCT	0.527000														38			25		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15701046	15701046	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:15701046G>A	uc001ioc.1	-	9	900	c.900C>T	c.(898-900)atC>atT	p.I300I	ITGA8_uc010qcb.1_Silent_p.I285I	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	300					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TAGAGTTAATGATGGAAACCT	0.313000														22			13		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000359	16000359	+	Silent	SNP	G	A	A	rs147434380		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:16000359G>A	uc002nbs.1	-	6	842	c.792C>T	c.(790-792)caC>caT	p.H264H	CYP4F2_uc010xot.1_Silent_p.H115H|CYP4F2_uc010xou.1_Silent_p.H115H	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	264					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGTGAAGTCGTGCACCAGGC	0.547000														71			59		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719517	42719517	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:42719517C>T	uc021xxv.1	+	9	2066	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	GHR_uc003jmt.3_Silent_p.I636I|GHR_uc003jmu.3_Silent_p.I636I|GHR_uc003jmv.2_Silent_p.I636I|GHR_uc021xxw.1_Silent_p.I636I|GHR_uc021xxx.1_Silent_p.I636I|GHR_uc021xxy.1_Silent_p.I636I|GHR_uc021xxz.1_Silent_p.I636I|GHR_uc021xya.1_Silent_p.I636I|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.I449I|GHR_uc021xyd.1_Silent_p.I614I	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	636					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGAACAAAATCATGCCTTAGC	0.433000														73			38		0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64737208	64737208	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:64737208C>T	uc002anm.3	+	11	1639	c.1579C>T	c.(1579-1581)Cca>Tca	p.P527S		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	527					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTCACAGTTTCCAGACATCAG	0.348000														27			30		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75428020	75428020	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:75428020C>T	uc003kei.1	+	1	579	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	149					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGGTCATGGTCGTTTTCAGTG	0.527000														64			30		0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99146235	99146235	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:99146235C>T	uc003yij.4	+	5	894	c.794C>T	c.(793-795)gCg>gTg	p.A265V	POP1_uc011lgv.2_Missense_Mutation_p.A265V|POP1_uc003yik.3_Missense_Mutation_p.A265V	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	265					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)			ATACTAAAGGCGCTTTCTGGA	0.338000														28			29		0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914451	111914451	+	Silent	SNP	T	A	A	rs34008362		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:111914451T>A	uc004epp.3	-	0	310	c.237A>T	c.(235-237)ggA>ggT	p.G79G	LHFPL1_uc004epq.3_Silent_p.G56G|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Silent_p.G56G	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	56						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						TGTGTCCCTCTCCCCGCACAG	0.552000														111			80		0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034480	150034480	+	Missense_Mutation	SNP	G	A	A	rs144138287	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:150034480G>A	uc003wgz.4	+	0	530	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	LRRC61_uc003wgv.3_Missense_Mutation_p.R177Q|LRRC61_uc003wgx.3_Missense_Mutation_p.R177Q|LRRC61_uc003wgw.3_Missense_Mutation_p.R177Q	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	177	LRRCT.									endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CAGCTGTGCCGAGACCTGGAC	0.662000														25			20		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540698	94540698	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:94540698G>A	uc003unp.3	+	1	1555	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	PPP1R9A_uc010lfj.3_Missense_Mutation_p.E425K|PPP1R9A_uc011kif.2_Missense_Mutation_p.E425K|PPP1R9A_uc003unq.3_Missense_Mutation_p.E425K|PPP1R9A_uc011kig.2_Missense_Mutation_p.E425K	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	425	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GGATGAGGAGGAAGATAGTGA	0.428000										HNSCC(28;0.073)				20			16		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38843398	38843398	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:38843398C>T	uc021yzh.1	+	52	7761	c.7652C>T	c.(7651-7653)tCc>tTc	p.S2551F	DNAH8_uc003ooe.2_Missense_Mutation_p.S2334F	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						TTAATTCCCTCCAAAGAAGAA	0.308000														4			52		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160757985	160757985	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:160757985A>C	uc003lys.1	-	8	1200	c.982T>G	c.(982-984)Tac>Gac	p.Y328D	GABRB2_uc011deh.1_Missense_Mutation_p.Y167D|GABRB2_uc003lyr.1_Missense_Mutation_p.Y328D|GABRB2_uc003lyt.1_Missense_Mutation_p.Y328D|GABRB2_uc021yhg.1_Missense_Mutation_p.Y265D	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	328					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGAAGATGTAGTTGACTAGG	0.493000														65			44		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18044116	18044116	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:18044116C>T	uc021trm.1	+	19	5595	c.5376C>T	c.(5374-5376)ttC>ttT	p.F1792F	MYO15A_uc021trl.1_Silent_p.F1790F	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1792	Actin-binding (Potential).|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)					ACCCCTTGTTCATGCGTTGCC	0.562000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			25		0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698179	79698179	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:79698179G>A	uc022bzm.1	+	0	141	c.141G>A	c.(139-141)gtG>gtA	p.V47V	FAM46D_uc004edl.1_Silent_p.V47V|FAM46D_uc004edm.2_Silent_p.V47V	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	47								p.V46F(2)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TTCATGTTGTGAAAGATCAAC	0.373000														61			35		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868802	89868802	+	Missense_Mutation	SNP	C	T	T	rs139378419		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:89868802C>T	uc001pdf.4	+	1	267	c.158C>T	c.(157-159)tCc>tTc	p.S53F	NAALAD2_uc009yvx.3_Missense_Mutation_p.S53F|NAALAD2_uc009yvy.3_Missense_Mutation_p.S53F|NAALAD2_uc001pdd.2_Missense_Mutation_p.S53F|NAALAD2_uc001pde.3_Missense_Mutation_p.S53F	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	53					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAACTGGTATCCGAAATGAAA	0.328000														40			28		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2786342	2786342	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:2786342G>A	uc009zdu.1	+	41	5368	c.5055G>A	c.(5053-5055)caG>caA	p.Q1685Q	CACNA1C_uc001qkc.2_Silent_p.Q1656Q|CACNA1C_uc001qjz.2_Silent_p.Q1637Q|CACNA1C_uc001qkd.2_Silent_p.Q1656Q|CACNA1C_uc001qke.2_Silent_p.Q1626Q|CACNA1C_uc001qkf.2_Silent_p.Q1645Q|CACNA1C_uc009zdw.1_Silent_p.Q1678Q|CACNA1C_uc001qkg.2_Silent_p.Q1643Q|CACNA1C_uc001qkh.2_Silent_p.Q1645Q|CACNA1C_uc001qkl.2_Silent_p.Q1685Q|CACNA1C_uc001qkj.2_Silent_p.Q1637Q|CACNA1C_uc001qkk.2_Silent_p.Q1637Q|CACNA1C_uc001qkn.2_Silent_p.Q1637Q|CACNA1C_uc001qkm.2_Silent_p.Q1626Q|CACNA1C_uc001qko.2_Silent_p.Q1657Q|CACNA1C_uc001qkp.2_Silent_p.Q1637Q|CACNA1C_uc001qkq.2_Silent_p.Q1665Q|CACNA1C_uc001qku.2_Silent_p.Q1637Q|CACNA1C_uc001qkr.2_Silent_p.Q1654Q|CACNA1C_uc001qks.2_Silent_p.Q1637Q|CACNA1C_uc001qkt.2_Silent_p.Q1656Q|CACNA1C_uc009zdv.1_Silent_p.Q1634Q|CACNA1C_uc001qkb.2_Silent_p.Q1637Q|CACNA1C_uc001qki.1_Silent_p.Q1373Q|CACNA1C_uc010sea.1_Silent_p.Q328Q|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1685					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)	GCAAAGAGCAGGGCCTTGTGG	0.597000														10			8		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17049247	17049247	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:17049247C>T	uc002nfb.3	-	22	2976	c.2944G>A	c.(2944-2946)Gtc>Atc	p.V982I		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	935						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						GCCCGGGGGACTCCTTCCGCC	0.602000														13			6		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540336	55540336	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:55540336C>T	uc003xsd.1	+	3	4042	c.3894C>T	c.(3892-3894)ttC>ttT	p.F1298F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1298					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGCTTGTTTCCTAGGAGAGG	0.413000														55			93		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016203	106016203	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:106016203C>T	uc004eml.3	+	1	795	c.545C>T	c.(544-546)tCt>tTt	p.S182F	RNF128_uc004emk.3_Missense_Mutation_p.S156F	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	182	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATTCTGCAATCTATTCAAAGA	0.358000														44			32		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92573830	92573830	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:92573830G>A	uc001pdj.4	+	16	10488	c.10471G>A	c.(10471-10473)Gaa>Aaa	p.E3491K	FAT3_uc001pdi.4_5'UTR	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3491	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCGGGAAATGAAGAGGAGGA	0.507000										TCGA Ovarian(4;0.039)				30			16		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133861	57133861	+	Silent	SNP	C	T	T	rs145594416		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:57133861C>T	uc002qnm.4	+	2	1444	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ZNF71_uc021vcg.1_Silent_p.I402I	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	402						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCACCAGATCGTGCACACCG	0.642000														45			42		0	0	1	0	0
CCRL1	51554	broad.mit.edu	37	3	132319283	132319284	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:132319283_132319284GG>AA	uc003eow.3	+	1	125_126	c.42_43GG>AA	c.(40-45)gaggaa>gaAAaa	p.E15K	NPHP3_uc003eov.4_Intron|NPHP3_uc011blr.1_Intron|CCRL1_uc003eox.3_Missense_Mutation_p.E15K	NM_016557	NP_848540	Q9NPB9	CCRL1_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 1 (CCRL1), transcript variant 2, mRNA.	15					chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity			breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17						ATTATTATGAGGAAAATGAAAT	0.347000														14			11		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8235122	8235122	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:8235122G>A	uc003gkv.4	+	13	3265	c.3164G>A	c.(3163-3165)cGa>cAa	p.R1055Q	SH3TC1_uc003gkw.4_Missense_Mutation_p.R979Q|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	1055							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						TACACCAAACGAAGTCTGGGG	0.542000														10			13		0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38677202	38677202	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:38677202C>T	uc010lwp.3	+	2	819	c.440C>T	c.(439-441)tCc>tTc	p.S147F	TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Missense_Mutation_p.S102F|TACC1_uc003xlz.3_5'UTR|TACC1_uc003xmc.4_5'UTR|TACC1_uc011lbz.2_Missense_Mutation_p.S163F|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Missense_Mutation_p.S147F|TACC1_uc011lcb.2_5'UTR|TACC1_uc011lcc.2_5'UTR|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_5'UTR|TACC1_uc010lwq.3_5'UTR	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	147					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AGCAAAATTTCCATCGTGAGG	0.443000														14			41		0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41598905	41598905	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:41598905C>T	uc002idu.1	+	20	3307	c.3235C>T	c.(3235-3237)Cgc>Tgc	p.R1079C	DHX8_uc010wig.2_Missense_Mutation_p.R1079C	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	1079						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCAGGACATTCGCAAGCAGAT	0.483000														84			38		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1545593	1545593	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:1545593G>A	uc002cly.3	+	2	873	c.582G>A	c.(580-582)cgG>cgA	p.R194R	TELO2_uc010uvg.1_Silent_p.R194R	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	194						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGGTCGTCCGGGTGCTGCAGG	0.667000														45			28		0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148524301	148524301	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:148524301G>A	uc003wfd.2	-	6	876	c.683C>T	c.(682-684)tCc>tTc	p.S228F	EZH2_uc022aov.1_Missense_Mutation_p.S189F|EZH2_uc011kug.2_Missense_Mutation_p.S219F|EZH2_uc003wfb.2_Missense_Mutation_p.S228F|EZH2_uc003wfc.2_Missense_Mutation_p.S189F|EZH2_uc011kuh.2_Missense_Mutation_p.S219F|EZH2_uc011kui.2_Missense_Mutation_p.S228F|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	228	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AAACATTGAGGAAATGGCTTC	0.373000			Mis		DLBCL									84			67		0	0	1	0	0
AVP	551	broad.mit.edu	37	20	3065310	3065310	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:3065310G>A	uc002whu.3	-	0	61	c.11C>T	c.(10-12)aCc>aTc	p.T4I		NM_000490	NP_000481	P01185	NEU2_HUMAN	Homo sapiens arginine vasopressin (AVP), mRNA.	4					ERK1 and ERK2 cascade|cell-cell signaling|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	V1A vasopressin receptor binding|caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		GGGCAGCATGGTGTCAGGCAT	0.637000														63			48		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2876264	2876264	+	Silent	SNP	A	C	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:2876264A>C	uc002lwp.1	+	2	391	c.304A>C	c.(304-306)Aga>Cga	p.R102R	ZNF556_uc002lwq.3_Silent_p.R102R	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAAGGAGAGACATTTGAG	0.458000														76			53		0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16902252	16902253	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:16902252_16902253CC>AT	uc003sts.3	-	3	280_281	c.207_208GG>AT	c.(205-210)gaggat>gaATat	p.D70Y		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA.	70						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TATTGACAATCCTCCAGGTGAT	0.292000														69			32		0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391524	58391524	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:58391524G>A	uc001nna.4	+	1	212	c.132G>A	c.(130-132)ctG>ctA	p.L44L	CNTF_uc010rkm.2_Non-coding_Transcript	NM_000614	NP_000605	P26441	CNTF_HUMAN	Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.	44					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATCAGGGCCTGAACAAGAACA	0.507000														14			28		0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77734242	77734242	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:77734242G>A	uc001oyw.4	-	0	79	c.54C>T	c.(52-54)acC>acT	p.T18T	NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	18						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GGGGCAGAGGGGTCTGGCTCG	0.711000														86			13		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052422	90052422	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:90052422G>A	uc003kju.3	+	55	11828	c.11732G>A	c.(11731-11733)gGa>gAa	p.G3911E	GPR98_uc003kjt.3_Missense_Mutation_p.G1617E|GPR98_uc003kjv.3_Missense_Mutation_p.G1511E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3911					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)		GATCCCAGAGGAATTTTTATG	0.423000														32			21		0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46757139	46757139	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:46757139G>A	uc003cqe.1	-	2	838	c.356C>T	c.(355-357)gCc>gTc	p.A119V	PRSS50_uc021wxe.1_Missense_Mutation_p.A119V|PRSS50_uc003cqf.2_Missense_Mutation_p.A33V	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	119	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.A119V(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCGAGCCACGGCTTCTGGGTC	0.632000														11			6		0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39373977	39373977	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:39373977G>A	uc010hhr.2	+	1	293	c.155G>A	c.(154-156)gGa>gAa	p.G52E	CCR8_uc003cjm.2_Intron|CCR8_uc021wwe.1_Missense_Mutation_p.G52E	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	52					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AGTCTTCTGGGAAACAGCCTG	0.478000														82			51		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55062994	55062994	+	RNA	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:55062994C>T	uc021qjb.1	-	2		c.644G>A			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		ATACATTCCTCTTAAAAGCTC	0.428000														26			20		0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6646281	6646281	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:6646281G>A	uc001qop.1	+	5	444	c.342G>A	c.(340-342)ggG>ggA	p.G114G		NM_002046	NP_002037	P04406	G3P_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase (GAPDH), mRNA.	114	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	ATTTGCAGGGGGGAGCCAAAA	0.572000														23			18		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115337888	115337888	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:115337888G>A	uc001lai.4	+	5	655	c.552G>A	c.(550-552)ggG>ggA	p.G184G	HABP2_uc021pyr.1_Silent_p.G158G|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.G173E	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	184	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AGTTCAAGGGGAAATTCTGTG	0.547000														50			23		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21739600	21739600	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:21739600G>A	uc002djh.3	+	18	2056	c.2055G>A	c.(2053-2055)atG>atA	p.M685I	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.M606I|OTOA_uc002dji.3_Missense_Mutation_p.M361I|OTOA_uc010vbk.2_Missense_Mutation_p.M333I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	699					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.I684I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGGACATCATGGGGAACCTGC	0.567000														48			35		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41455851	41455851	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr21:41455851C>T	uc002yyq.1	-	23	4667	c.4215G>A	c.(4213-4215)ggG>ggA	p.G1405G	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1405	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TAGAGCTGCCCCCGTTGTCTC	0.468000														21			18		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741041	146741041	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:146741041G>A	uc003weu.2	+	3	961	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	149	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.H148H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTCCGGCACGAATTACAGCA	0.423000										HNSCC(39;0.1)				51			49		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25456957	25456957	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:25456957G>A	uc002wux.1	-	16	3044	c.2970C>T	c.(2968-2970)acC>acT	p.T990T	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	990					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCTGCTCCTGGGTGCCCCTGC	0.682000														28			22		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56319229	56319229	+	Missense_Mutation	SNP	G	A	A	rs141366900		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:56319229G>A	uc010ygf.2	-	5	2704	c.1993C>T	c.(1993-1995)Cgc>Tgc	p.R665C	NLRP11_uc002qlz.3_Intron|NLRP11_uc002qmb.3_Missense_Mutation_p.R566C|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	665							ATP binding	p.R665C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTGAGTGTGCGAAGTTTACAG	0.423000														88			54		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289440	107289440	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:107289440G>A	uc011lvn.2	-	0	51	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGTAACCAGAGAGTCCCAGAA	0.393000														52			36		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57113043	57113043	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:57113043C>T	uc021tiu.1	+	42	5290	c.5163C>T	c.(5161-5163)atC>atT	p.I1721I	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Silent_p.I263I|NLRC5_uc002ekr.1_Silent_p.I608I	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1721					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGGAAGAGATCAGGTAAGTAG	0.647000														12			35		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60707110	60707110	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:60707110C>T	uc001nqn.2	-	6	1511	c.1277_splice	c.e6-1	p.G426_splice	SLC15A3_uc001nqo.2_Splice_Site_p.E370_splice	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	426					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CTCCAGGACTCCTGGTGGAGG	0.582000														3			15		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94547443	94547443	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:94547443C>T	uc011cdt.2	+	13	2475	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	GRID2_uc011cdu.2_Silent_p.F644F	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	739					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.F739F(2)		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)	ATTATGCTTTCGTATGGGATG	0.343000														13			26		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342678	40342678	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:40342678G>A	uc002rrx.3	-	9	2661	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.F874F|SLC8A1_uc002rsb.2_Silent_p.F871F|SLC8A1_uc002rrz.3_Silent_p.F866F|SLC8A1_uc002rsa.3_Silent_p.F843F|SLC8A1_uc002rsd.4_Silent_p.F843F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	879					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CGATTCCCAGGAAGACATTCA	0.572000														66			34		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92257826	92257826	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:92257826G>A	uc001pdj.4	+	1	3336	c.3319G>A	c.(3319-3321)Gat>Aat	p.D1107N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1107	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACATTCTTGATCGGGAGAC	0.438000										TCGA Ovarian(4;0.039)				25			26		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432941	104432941	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:104432941C>T	uc004bbp.2	-	2	2354	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E585K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	585					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCTATCTTTTCCAGCAGATCA	0.438000														44			30		0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56211541	56211541	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:56211541C>T	uc001sht.3	-	1	1	c.-54_splice	c.e1-1		DNAJC14_uc009zoa.2_Splice_Site|DNAJC14_uc001shs.3_Splice_Site|DNAJC14_uc001shu.2_Intron|DNAJC14_uc001shv.4_Splice_Site|ORMDL2_uc001shw.1_5'Flank	NM_033082	NP_149073	Q6Y2X3	DJC14_HUMAN	Homo sapiens SAP domain containing ribonucleoprotein (SARNP), transcript variant 1, mRNA.						protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCCAGGAGCTCCCGCCTTAGG	0.592000														33			12		0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701183	8701183	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:8701183G>A	uc002glp.2	-	0	1485	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	419						integral to membrane		p.P419P(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGCTTTGAACGGATGAAGCAG	0.577000														26			65		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95944791	95944791	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:95944791C>T	uc002suk.3	+	9	1306	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	PROM2_uc002suh.2_Silent_p.F391F|PROM2_uc002sui.3_Silent_p.F391F|PROM2_uc002suj.3_Silent_p.F45F|PROM2_uc002sul.3_5'UTR|PROM2_uc002sum.3_5'Flank	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	391						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						CTGAAGGGTTCCCGGGCTTGG	0.647000														21			15		0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100364926	100364926	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:100364926G>C	uc004egx.3	+	4	800	c.530G>C	c.(529-531)cGt>cCt	p.R177P	CENPI_uc011mrg.2_Missense_Mutation_p.R177P|CENPI_uc004egy.3_Missense_Mutation_p.R177P	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	177					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.R177H(2)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TTCATTGATCGTAAGGAGCAA	0.338000														23			10		0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144657657	144657657	+	Silent	SNP	G	C	C	rs149282363		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:144657657G>C	uc003yyo.4	-	9	1252	c.1227C>G	c.(1225-1227)acC>acG	p.T409T	C8orf73_uc010mff.3_5'Flank|C8orf73_uc010mfg.1_5'Flank|NAPRT1_uc003yym.4_Silent_p.T409T|NAPRT1_uc003yyn.4_Silent_p.T409T|NAPRT1_uc011lkh.2_Silent_p.T409T			Q6XQN6	PNCB_HUMAN	Homo sapiens nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1), mRNA.	409					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	Golgi apparatus|cytosol|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGGGGTCCTCGGTCAGCTTCA	0.657000														8			14		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170034531	170034531	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:170034531G>A	uc002ues.3	-	52	10388	c.10175C>T	c.(10174-10176)tCt>tTt	p.S3392F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3392					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)	CTCCAAATCAGAGTACCTGCA	0.408000														28			15		0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496954	24496954	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:24496954G>A	uc002kwd.3	-	4	830	c.601C>T	c.(601-603)Cat>Tat	p.H201Y	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.H201Y|CHST9_uc021uij.1_Missense_Mutation_p.H116Y	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	201					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GATACTGTATGAAAAAGATGT	0.393000														68			47		0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44641100	44641100	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:44641100C>T	uc002xqz.3	+	7	1228	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	403					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGCATGAGTTCGGCCACGCGC	0.647000														33			25		0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54696175	54696175	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:54696175C>T	uc003jpy.4	+	20	2673	c.2407C>T	c.(2407-2409)Cga>Tga	p.R803*	SKIV2L2_uc011cqi.2_Nonsense_Mutation_p.R702*	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	803					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTTTGAGCATCGAATGTATTC	0.373000														25			16		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693236	94693236	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:94693236G>A	uc011cdt.2	+	15	2869	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	GRID2_uc011cdu.2_Missense_Mutation_p.E776K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	871					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)	GGATGACAAGGAAATTGACCT	0.393000														29			45		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172834933	172834933	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:172834933C>A	uc003fin.4	-	1	773	c.589G>T	c.(589-591)Gga>Tga	p.G197*		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	197					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGAACTGTCCTGCTGCCAAG	0.408000														81			55		2.23044e-30	2.24997e-30	1	1	0
TEX11	56159	broad.mit.edu	37	X	69829020	69829020	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:69829020C>T	uc004dyl.3	-	22	2007	c.1845G>A	c.(1843-1845)gtG>gtA	p.V615V	TEX11_uc004dyk.3_Silent_p.V290V|TEX11_uc004dym.3_Silent_p.V600V	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	615							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GAGAAAGTTTCACAAAGGCTG	0.378000														19			12		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115569056	115569056	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:115569056G>A	uc004eqi.3	+	1	278	c.147G>A	c.(145-147)atG>atA	p.M49I	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	49					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)	TTCTATCTATGATTGGATACG	0.448000														71			51		0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774444	89774444	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:89774444G>A	uc010rua.2	+	7	1414	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	362	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						AATATGTATCGGAAGGAGAAG	0.448000														57			26		0	0	1	0	0
NF1P2	440225	broad.mit.edu	37	15	22143113	22143113	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:22143113C>T	uc010tzs.1	-	3		c.474_splice	c.e3+1		abParts_uc001yuj.2_Intron					Homo sapiens neurofibromin 1 pseudogene 2 (NF1P2), non-coding RNA.																		TGATACAAACCTTGAAACAGA	0.378000														206			24		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96466541	96466541	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:96466541G>A	uc001kjv.4	+	5	969	c.643_splice	c.e5-1	p.V215_splice	CYP2C19_uc001kjw.4_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Splice_Site	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	215					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)	aatCTTTAAGGTCTGCAATAA	0.279000														14			12		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118530493	118530493	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:118530493G>A	uc001ehk.2	-	39	5701	c.5633C>T	c.(5632-5634)tCc>tTc	p.S1878F	SPAG17_uc021osr.1_Missense_Mutation_p.S388F	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1878						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)		GCGTTTTGAGGATGCTGTGTG	0.403000														3			23		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52481856	52481856	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:52481856C>T	uc001wzo.3	-	14	3400	c.3166G>A	c.(3166-3168)Gga>Aga	p.G1056R	NID2_uc010tqs.2_Missense_Mutation_p.G1008R|NID2_uc010tqt.1_Missense_Mutation_p.G1056R|NID2_uc001wzp.3_Missense_Mutation_p.G1056R	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1056	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCGCTCTTTCCGTGGCACTGC	0.647000														25			4		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382920	56382920	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:56382920G>A	uc002ivx.4	-	27	6213	c.5342C>T	c.(5341-5343)tCc>tTc	p.S1781F	BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_Missense_Mutation_p.S13F|BZRAP1_uc010dcs.3_Missense_Mutation_p.S1721F|BZRAP1_uc010wnt.2_Missense_Mutation_p.S1772F	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1781	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATATTGGGGGAACTCTCCTG	0.607000														22			10		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39079153	39079153	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:39079153G>A	uc003xmt.4	+	12	1503	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	ADAM32_uc011lch.2_Missense_Mutation_p.D321N|ADAM32_uc003xmu.4_Missense_Mutation_p.D314N|ADAM32_uc003xmv.3_5'UTR	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	420	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAGCTGTTGTGATTTTCGAAC	0.323000														8			10		0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55478757	55478757	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:55478757G>A	uc002iuz.1	+	5	503	c.330G>A	c.(328-330)aaG>aaA	p.K110K	MSI2_uc010wnm.1_Silent_p.K88K|MSI2_uc002iva.3_Silent_p.K106K	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	110	RRM 1.|RRM 2.					cytoplasm	RNA binding|nucleotide binding	p.K106K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CAAGAACAAAGAAAATATTTG	0.448000			T	HOXA9	CML									40			38		0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74768012	74768012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:74768012G>A	uc021ptk.1	-	13	1605	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*	P4HA1_uc010qka.2_Nonsense_Mutation_p.R525*|P4HA1_uc001jth.3_Nonsense_Mutation_p.R525*|P4HA1_uc001jtg.3_Nonsense_Mutation_p.R525*|P4HA1_uc010qkb.2_Nonsense_Mutation_p.R507*|P4HA1_uc021ptj.1_Nonsense_Mutation_p.R525*	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	525						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAAGGTCTTCGAAATTCTTGT	0.343000														59			24		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161010654	161010654	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:161010654C>T	uc003qtl.3	-	24	3998	c.3878G>A	c.(3877-3879)aGg>aAg	p.R1293K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3801	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGACATGTCCTTCCTGTAAC	0.483000														57			38		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581660	140581660	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:140581660C>T	uc003liy.3	+	0	2313	c.2313C>T	c.(2311-2313)atC>atT	p.I771I		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	771					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACCGGTTATCCCTAATATCC	0.433000														59			41		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:31323920C>T	uc010dmg.1	+	11	4163	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1077S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1370					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						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		88			79		0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906357	144906357	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:144906357G>A	uc022cfn.1	+	0	2414	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E	SLITRK2_uc004fcd.3_Missense_Mutation_p.G805E|SLITRK2_uc010nsp.3_Missense_Mutation_p.G805E|SLITRK2_uc010nso.3_Missense_Mutation_p.G805E|SLITRK2_uc011mwq.2_Missense_Mutation_p.G805E|SLITRK2_uc011mwr.2_Missense_Mutation_p.G805E|SLITRK2_uc011mws.2_Missense_Mutation_p.G805E|SLITRK2_uc004fcg.3_Missense_Mutation_p.G805E|SLITRK2_uc011mwt.2_Missense_Mutation_p.G805E|CXorf1_uc004fch.3_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	805						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTATATGGAACTCCCAGG	0.443000														81			55		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228467	21228467	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:21228467A>G	uc002red.3	-	25	11401	c.11273T>C	c.(11272-11274)gTt>gCt	p.V3758A		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3758					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCACGATGGAACCTGAAGATC	0.393000														174			70		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408704	2408704	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:2408704G>A	uc022brx.1	-	0	57	c.57C>T	c.(55-57)ccC>ccT	p.P19P	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.P19P|ZBED1_uc004cqg.2_Silent_p.P19P|ZBED1_uc022brw.1_Silent_p.P19P	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	19						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				TCTTGGCGCGGGGGTGGGCCA	0.592000														106			68		0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74077540	74077540	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:74077540C>T	uc002sju.3	+	7	1107	c.905C>T	c.(904-906)cCc>cTc	p.P302L	STAMBP_uc002sjs.3_Missense_Mutation_p.P302L|STAMBP_uc002sjv.3_Missense_Mutation_p.P302L	NM_006463	NP_998787	O95630	STABP_HUMAN	Homo sapiens STAM binding protein (STAMBP), transcript variant 1, mRNA.	302	MPN.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GTTCTCATCCCCAAGCAAAGT	0.483000														108			45		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524126	24524126	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:24524126G>A	uc002wtw.1	+	1	1026	c.393G>A	c.(391-393)ggG>ggA	p.G131G		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	131					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACCCGGATGGGAAGTTCATTG	0.597000														91			68		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10307704	10307704	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:10307704C>T	uc002gmm.2	-	21	2726	c.2631G>A	c.(2629-2631)gaG>gaA	p.E877E	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	877					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.E877Q(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCATTTTTTCCTCTAGCTCCT	0.433000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					9			34		0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85418182	85418182	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:85418182G>A	uc001dkm.3	-	4	838	c.597C>T	c.(595-597)tcC>tcT	p.S199S	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	199						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GAGGCTTCTTGGAGAGGTCCT	0.398000														3			49		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57004104	57004104	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:57004104G>A	uc001njo.3	-	0	824	c.375C>T	c.(373-375)ttC>ttT	p.F125F	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	125						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGTAGCGGTCGAAGCTGAGGC	0.632000														9			10		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072338	75072338	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:75072338C>T	uc001dgg.3	-	9	1655	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.G273E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	479	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTGGTTTTCCTTTACTTGT	0.383000														21			98		0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31353845	31353845	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:31353845G>A	uc001wqr.2	+	8	796	c.716G>A	c.(715-717)gGg>gAg	p.G239E	COCH_uc001wqp.2_Missense_Mutation_p.G239E|COCH_uc001wqq.4_Missense_Mutation_p.G239E|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Missense_Mutation_p.G46E	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	239	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGTTTCAGAGGGGGTAATTCC	0.353000														26			16		0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113787	56113787	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:56113787C>T	uc010rjg.2	+	0	273	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TAGTAAACTTCATAGTGCACA	0.393000										HNSCC(65;0.19)				102			65		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79171640	79171640	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:79171640T>A	uc002jzp.1	-	12	1728	c.1528A>T	c.(1528-1530)Aaa>Taa	p.K510*	AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Nonsense_Mutation_p.K507*|AZI1_uc002jzo.1_Nonsense_Mutation_p.K507*|AZI1_uc010wum.1_Nonsense_Mutation_p.K510*	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	510					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCACTGAGTTTTCCAAATTTC	0.567000														19			18		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26890537	26890537	+	Splice_Site	SNP	T	C	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:26890537T>C	uc003jgs.1	-	8	1559	c.1390_splice	c.e8+1	p.N464_splice	CDH9_uc011cnv.1_Splice_Site_p.N57_splice	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	464	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCAACTTACTTATTTCTGTG	0.388000														55			30		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151105887	151105887	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:151105887G>A	uc003eyp.3	+	34	5402	c.5273G>A	c.(5272-5274)gGa>gAa	p.G1758E	MED12L_uc011bnz.2_Missense_Mutation_p.G1618E|MED12L_uc003eyy.1_Missense_Mutation_p.G921E	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1758					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGATCAGGGAAAAACCACA	0.493000														28			24		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699210	48699210	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:48699210G>A	uc003cuf.1	-	2	1068	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	CELSR3_uc003cul.3_Silent_p.F286F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	286	Cadherin 1.				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)		GCTGCGGGAGGAAGCGGCAGC	0.721000														28			18		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173594003	173594003	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:173594003G>A	uc001gja.1	-	4	714	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	234										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CTCATTAATGGAAGCTTCTGT	0.393000														10			39		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3905454	3905454	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:3905454C>T	uc010xhz.2	+	4	660	c.177C>T	c.(175-177)ttC>ttT	p.F59F	ATCAY_uc002lyy.4_Silent_p.F53F			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	53					transport		protein binding	p.F53F(2)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CGCTAAATTTCAACGGAGCGC	0.488000														15			10		0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15349684	15349684	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:15349684C>T	uc004cwr.3	-	1	485	c.369G>A	c.(367-369)acG>acA	p.T123T	PIGA_uc010nev.3_Intron|PIGA_uc004cwq.3_Intron|PIGA_uc004cws.3_Intron|PIGA_uc011miq.2_Intron	NM_002641	NP_002632	P37287	PIGA_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class A (PIGA), transcript variant 1, mRNA.	123					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AATGGATTATCGTGACTCTCT	0.468000														55			44		0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151789844	151789844	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:151789844C>T	uc003qok.1	+	4	1184	c.925C>T	c.(925-927)Cat>Tat	p.H309Y	C6orf211_uc011ees.1_Missense_Mutation_p.H190Y	NM_024573	NP_078849	Q9H993	CF211_HUMAN	Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.	309							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ACACAGTAATCATAAGTGGAT	0.343000														79			34		0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100903	85100903	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:85100903G>A	uc002fiu.3	+	1	446	c.226G>A	c.(226-228)Gag>Aag	p.E76K	KIAA0513_uc010voj.2_Missense_Mutation_p.E76K|KIAA0513_uc002fit.3_Missense_Mutation_p.E76K	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	76						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CTCCTCCAACGAGTCCTTCTC	0.587000														8			25		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224583	3224583	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:3224583G>A	uc022aqr.1	-	19	3476	c.3086C>T	c.(3085-3087)tCg>tTg	p.S1029L	CSMD1_uc011kwj.2_Missense_Mutation_p.S422L|CSMD1_uc003wqe.3_Missense_Mutation_p.S186L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1030	CUB 6.					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)		GCCCTCGTACGAAATTGAGAA	0.468000														5			8		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187883	102187883	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:102187883C>T	uc003dvt.1	+	7	985	c.885C>T	c.(883-885)ttC>ttT	p.F295F	ZPLD1_uc003dvs.1_Silent_p.F279F|ZPLD1_uc011bhg.1_Silent_p.F279F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	279	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTGAAGTGTTCCGATTTGTGA	0.483000														60			36		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118240	194118240	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:194118240G>A	uc003ftv.1	-	1	803	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	GP5_uc021xiz.1_Missense_Mutation_p.P258S	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	258					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGCGCAGAGGGGAGAAACGCA	0.582000														54			44		0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55434047	55434047	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:55434047G>A	uc001xbm.2	-	16	2219	c.2129C>T	c.(2128-2130)tCc>tTc	p.S710F	WDHD1_uc010aom.2_Missense_Mutation_p.S227F|WDHD1_uc001xbn.2_Missense_Mutation_p.S587F	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	710						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AAGCTTAAAGGATAATATAGC	0.398000														30			21		0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8673834	8673834	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:8673834G>A	uc001qun.3	+	5	808	c.615G>A	c.(613-615)agG>agA	p.R205R		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	205	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AAGCAAGTAGGATTTGTAAAA	0.368000														44			30		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540436	5540436	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:5540436G>A	uc003soo.2	-	2	1558	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L	FBXL18_uc003son.4_Silent_p.L488L	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	488									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CAATCAGCTCGAGGTGTTCCA	0.667000														8			13		0	0	1	0	0
NDUFAF6	137682	broad.mit.edu	37	8	96047698	96047698	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:96047698C>T	uc003yhj.3	+	2	337	c.314C>T	c.(313-315)tCt>tTt	p.S105F	NDUFAF6_uc011lgs.2_Non-coding_Transcript|NDUFAF6_uc003yhi.3_Missense_Mutation_p.S53F|NDUFAF6_uc003yhk.3_Non-coding_Transcript	NM_152416	NP_689629	Q330K2	CH038_HUMAN	Homo sapiens chromosome 8 open reading frame 38 (C8orf38), nuclear gene encoding mitochondrial protein, mRNA.	105					biosynthetic process	mitochondrion	transferase activity										GACTCAGTCTCTGAGAAAACA	0.353000														14			19		0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41195002	41195002	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:41195002C>T	uc001zne.3	+	4	2724	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	795					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TTCCTGATTTCGTCACCATCG	0.552000														27			13		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496740	20496740	+	RNA	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:20496740C>T	uc001ytf.1	+	5		c.793C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TGTCATCTTTCTTTTCTTTGA	0.393000														43			4		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496688	20496688	+	RNA	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:20496688C>T	uc001ytf.1	+	5		c.741C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		GTGTTGTGAACTCCATGGTTT	0.423000														43			4		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151520200	151520200	+	Missense_Mutation	SNP	G	A	A	rs111883007		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:151520200G>A	uc010ipj.3	-	37	6249	c.6005C>T	c.(6004-6006)tCg>tTg	p.S2002L	LRBA_uc003ilt.4_Missense_Mutation_p.S661L|LRBA_uc003ilu.4_Missense_Mutation_p.S2002L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2002						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGATGTGTCGATCCTAGAGG	0.498000														25			47		0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55682049	55682049	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:55682049C>T	uc010rir.2	-	0	10	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGCAATTTTCCCAGTCCATT	0.338000														33			18		0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53277358	53277358	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:53277358G>A	uc004dsd.3	-	6	2721	c.2520C>T	c.(2518-2520)ttC>ttT	p.F840F	IQSEC2_uc004dsc.3_Silent_p.F635F	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	830	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TATGGGACTGGAACTTCCGGA	0.572000														12			10		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79747381	79747381	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:79747381G>A	uc001sys.3	+	9	1581	c.910G>A	c.(910-912)Gat>Aat	p.D304N	SYT1_uc001syt.3_Missense_Mutation_p.D304N|SYT1_uc001syu.3_Missense_Mutation_p.D301N|SYT1_uc001syv.3_Missense_Mutation_p.D304N	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	304	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAAGAAGATGGATGTGGGTGG	0.473000														143			78		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166935632	166935632	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:166935632G>A	uc003irh.2	+	7	1609	c.962G>A	c.(961-963)gGc>gAc	p.G321D	TLL1_uc021xud.1_Missense_Mutation_p.G321D|TLL1_uc011cjn.2_Missense_Mutation_p.G321D|TLL1_uc011cjo.2_Missense_Mutation_p.G145D	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	321	Metalloprotease (By similarity).				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)		GATGATAATGGCATACGTCCT	0.448000														112			20		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31083824	31083824	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:31083824C>T	uc003nsm.2	-	1	1624	c.1568G>A	c.(1567-1569)gGa>gAa	p.G523E	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	523					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GAGTAACTCTCCTTGGGGTAG	0.517000														5			47		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807924	8807924	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:8807924C>T	uc002mkl.2	-	0	1249	c.1128G>A	c.(1126-1128)agG>agA	p.R376R		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	376						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGGAGAAATTCCTGGTGGGCT	0.667000														27			26		0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123424809	123424809	+	Missense_Mutation	SNP	G	A	A	rs140303524		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:123424809G>A	uc001udm.4	-	8	1902	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L	ABCB9_uc021rfo.1_Missense_Mutation_p.P531L|ABCB9_uc021rfp.1_Missense_Mutation_p.P531L|ABCB9_uc010tai.2_Missense_Mutation_p.P138L|ABCB9_uc001udo.4_Missense_Mutation_p.P488L|ABCB9_uc010taj.2_Missense_Mutation_p.P468L|ABCB9_uc001udq.3_Missense_Mutation_p.P250L|ABCB9_uc021rfq.1_Missense_Mutation_p.P531L|ABCB9_uc001udr.3_Missense_Mutation_p.P531L	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	531	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CACCTTGCCGGGGGACAGGCT	0.632000														18			19		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48563535	48563535	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:48563535G>A	uc003gyh.1	-	32	4420	c.3815C>T	c.(3814-3816)tCc>tTc	p.S1272F	FRYL_uc003gyk.3_Missense_Mutation_p.S1272F|FRYL_uc003gyi.1_Missense_Mutation_p.S161F	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1272					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TAGTTCCTCGGACAACTGATA	0.418000														56			19		0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41075535	41075536	+	Missense_Mutation	DNP	CC	TT	TT	rs150937708		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:41075535_41075536CC>TT	uc003ayz.3	+	0	354_355	c.86_87CC>TT	c.(85-87)ccc>cTT	p.P29L	MCHR1_uc003aza.3_Intron	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	29					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GAGGAAGACCCCCTTCCCAACT	0.663000														31			9		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827404	96827404	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:96827404C>T	uc001kkb.3	-	1	308	c.213G>A	c.(211-213)atG>atA	p.M71I	CYP2C8_uc010qoa.2_Missense_Mutation_p.M1I|CYP2C8_uc010qoc.2_Intron|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_Missense_Mutation_p.M1I|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	71					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.G70D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTATGGGATTCATGCCAAAAT	0.413000														36			24		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45194949	45194949	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:45194949G>A	uc002xsf.2	-	10	1453	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	SLC13A3_uc010ghn.2_Silent_p.I440I|SLC13A3_uc010zxx.2_Silent_p.I373I|SLC13A3_uc010zxw.2_Silent_p.I421I|SLC13A3_uc002xsg.2_Silent_p.I424I|SLC13A3_uc010gho.2_Silent_p.I389I|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Silent_p.I58I|SLC13A3_uc010zxv.2_Silent_p.I56I	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	471						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGACCACAGTGATGAGCAGCA	0.607000														89			71		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29963608	29963608	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:29963608C>T	uc011kaa.2	-	7	1319	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	SCRN1_uc011jzy.2_Missense_Mutation_p.D336N|SCRN1_uc003tak.3_Missense_Mutation_p.D404N|SCRN1_uc011jzz.2_Missense_Mutation_p.D404N|SCRN1_uc011jzw.2_Missense_Mutation_p.D271N|SCRN1_uc010kvp.3_Missense_Mutation_p.D404N|SCRN1_uc011jzx.2_Missense_Mutation_p.D227N	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	404					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TCAACACAGTCATAGAAAAGG	0.483000														77			50		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141460020	141460020	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:141460020C>T	uc002tvj.1	-	37	7098	c.6126G>A	c.(6124-6126)ccG>ccA	p.P2042P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2042					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGATGCCATTCGGCCATGCTA	0.423000										TSP Lung(27;0.18)				45			46		0	0	1	0	0
C6orf226	441150	broad.mit.edu	37	6	42858347	42858348	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:42858347_42858348GG>AA	uc003osw.3	-	0	207_208	c.179_180CC>TT	c.(178-180)ccc>cTT	p.P60L		NM_001008739	NP_001008739	Q5I0X4	CF226_HUMAN	Homo sapiens chromosome 6 open reading frame 226 (C6orf226), mRNA.	60										lung(2)	2						CGGCCTCCCAGGGCTTGGGCCT	0.708000														13			52		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49214124	49214124	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:49214124C>T	uc010zyt.2	-	13	2034	c.1783G>A	c.(1783-1785)Ggt>Agt	p.G595S	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.G591S|FAM65C_uc002xvn.1_Missense_Mutation_p.G591S	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	591										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACCGGAGACCCTGGGAGCCC	0.642000														7			4		0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77040030	77040030	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:77040030C>T	uc002jwt.3	+	0	356	c.274C>T	c.(274-276)Cca>Tca	p.P92S	C1QTNF1_uc002jwp.3_Intron|C1QTNF1_uc002jwq.3_Intron|C1QTNF1_uc002jwr.4_Intron|C1QTNF1_uc002jws.3_Intron	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	97						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TGTTTCTTTCCCACCAGGGCC	0.582000														42			19		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136040	55136040	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:55136040G>A	uc010rif.2	+	0	681	c.681G>A	c.(679-681)atG>atA	p.M227I		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	227					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						GGCTTTCTATGATAGCTAATG	0.433000														80			55		0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6777167	6777167	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:6777167G>A	uc010sfh.2	-	10	1717	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	ZNF384_uc001qqa.3_Nonsense_Mutation_p.Q422*|ZNF384_uc001qqd.3_Nonsense_Mutation_p.Q367*	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA.	483	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						gcctgagcctgggcttgagct	0.642000			T	"""EWSR1, TAF15 """	ALL									22			19		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137917885	137917885	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:137917885C>T	uc002tva.1	+	4	1379	c.1379C>T	c.(1378-1380)tCa>tTa	p.S460L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.S350L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.P460T(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCTTCCTGGTCAGCCTGGGGC	0.517000														30			24		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786790	121786790	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:121786790C>T	uc003ksw.1	+	9	2454	c.2248C>T	c.(2248-2250)Ccc>Tcc	p.P750S	SNCAIP_uc011cwl.1_Missense_Mutation_p.P308S|SNCAIP_uc003ksy.1_Missense_Mutation_p.P384S|SNCAIP_uc003ksx.1_Missense_Mutation_p.P797S|SNCAIP_uc003ksz.1_Missense_Mutation_p.P384S|SNCAIP_uc010jcu.2_Missense_Mutation_p.P346S|SNCAIP_uc011cwm.1_Missense_Mutation_p.P384S|SNCAIP_uc003kta.1_Missense_Mutation_p.P382S|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P444S|SNCAIP_uc010jcx.1_Missense_Mutation_p.P690S|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P266S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	750					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)		CAGCCCATCTCCCACCTCAGA	0.567000														40			25		0	0	1	0	0
PSORS1C1	170679	broad.mit.edu	37	6	31107563	31107563	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:31107563C>T	uc003nsl.2	+	5	602	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S	PSORS1C1_uc010jsj.2_Missense_Mutation_p.P54S|PSORS1C1_uc003nsn.2_Non-coding_Transcript|PSORS1C2_uc003nso.4_5'Flank	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN	Homo sapiens psoriasis susceptibility 1 candidate 1 (PSORS1C1), mRNA.	105										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GCCAATGGCTCCGGAAGAAGC	0.572000														15			77		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247544	247544	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:247544C>T	uc001qhw.2	+	3	1015	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	IQSEC3_uc001qhu.1_Missense_Mutation_p.R36C|LOC574538_uc001qhv.1_Non-coding_Transcript	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	339	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGAGAAAATCCGCAACTCGCT	0.632000														8			13		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37687033	37687033	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:37687033C>T	uc010cvv.3	+	13	4523	c.3937C>T	c.(3937-3939)Cct>Tct	p.P1313S	CDK12_uc002hrw.4_Missense_Mutation_p.P1304S	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1313					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGCAGAGCCTCCTGGCCACCT	0.587000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				109			53		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602793	138602794	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:138602793_138602794GG>AA	uc011kql.2	-	1	1627_1628	c.1578_1579CC>TT	c.(1576-1581)ggccgc>ggTTgc	p.R527C	KIAA1549_uc011kqj.2_Missense_Mutation_p.R527C	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	527	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACAGAGAGGCGGCCGTGGGCAG	0.535000			O	BRAF	pilocytic astrocytoma									6			10		0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41770814	41770814	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:41770814C>T	uc001zny.3	+	14	1821	c.1809C>T	c.(1807-1809)atC>atT	p.I603I		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	603					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	p.I478I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGCCTACCATCGTTTCTAATG	0.398000														91			53		0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123034483	123034483	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:123034483C>T	uc010nqu.3	+	5	1366	c.1240C>T	c.(1240-1242)Cta>Tta	p.L414L	XIAP_uc004etx.3_Silent_p.L414L|XIAP_uc010nqv.3_Silent_p.L40L	NM_001204401	NP_001191330	P98170	XIAP_HUMAN	Homo sapiens X-linked inhibitor of apoptosis (XIAP), transcript variant 2, mRNA.	414					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GGTTGCAGATCTAGTGAATGC	0.378000									X-linked Lymphoproliferative syndrome					69			42		0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142239650	142239650	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:142239650C>T	uc011ksd.2	-	1	241	c.230G>A	c.(229-231)gGa>gAa	p.G77E	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TRBV9_uc022ann.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AAGAATGTTTCCTTTTGCTCT	0.488000														45			31		0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60019826	60019826	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:60019826G>A	uc009wac.3	+	7	1042	c.830G>A	c.(829-831)gGc>gAc	p.G277D	FGGY_uc001czg.2_Missense_Mutation_p.G165D|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.G277D|FGGY_uc001czl.4_Missense_Mutation_p.G189D|FGGY_uc001czm.4_5'UTR	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	277					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGAGGGCACGGCCTCATCTGT	0.493000														6			40		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31692233	31692233	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:31692233C>T	uc011kae.2	+	13	3015	c.3003C>T	c.(3001-3003)atC>atT	p.I1001I	CCDC129_uc011kad.1_Silent_p.I985I|CCDC129_uc003tcj.1_Silent_p.I975I|CCDC129_uc003tci.1_Silent_p.I826I|CCDC129_uc003tck.1_Silent_p.I883I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	975										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTTCTAAAATCCACCCAGGCA	0.527000														20			14		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51056987	51056987	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:51056987G>A	uc002lfe.2	+	28	4924	c.4308G>A	c.(4306-4308)atG>atA	p.M1436I	DCC_uc010dpf.2_3'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1436					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAGGACTCATGAAGCAGCTTA	0.393000														46			41		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923364	9923364	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:9923364G>A	uc010uym.2	-	9	2233	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	GRIN2A_uc002czo.4_Silent_p.F641F|GRIN2A_uc010uyn.2_Silent_p.F484F|GRIN2A_uc002czr.4_Silent_p.F641F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	641					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)	AGCTAGCCAGGAATATGACAG	0.502000														49			27		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092668	30092668	+	RNA	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:30092668G>A	uc010dmc.3	+	0		c.1043G>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		TGTGCGCCATGATGATGGTGG	0.438000														25			14		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796670	43796670	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr21:43796670C>T	uc002zbb.2	-	10	1375	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	TMPRSS3_uc002zay.2_Missense_Mutation_p.G149S|TMPRSS3_uc002zaz.2_Missense_Mutation_p.G265S|TMPRSS3_uc002zba.2_Missense_Mutation_p.G265S|TMPRSS3_uc002zbc.2_Missense_Mutation_p.G391S	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	392	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCCACGCCACCCGTCAGGTAG	0.662000											OREG0031642	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		55			30		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072515	108072515	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:108072515G>A	uc003dwz.3	+	3	720	c.306G>A	c.(304-306)ggG>ggA	p.G102G	HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Silent_p.G102G|HHLA2_uc003dwy.4_Silent_p.G102G	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	102	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTCAAAATGGGAATGCGTCGC	0.403000														30			23		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102713279	102713279	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:102713279C>T	uc001phj.1	-	2	447	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	128					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TCAACAGCATCTTTTGGCAAA	0.378000														15			35		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117964916	117964916	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:117964916C>T	uc001two.2	-	12	1779	c.1724G>A	c.(1723-1725)gGa>gAa	p.G575E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	604					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATGGATTTCCTTCCAAGCT	0.443000														70			46		0	0	1	0	0
GGT8P	645367	broad.mit.edu	37	2	91968446	91968446	+	RNA	SNP	G	A	A	rs62144337	by1000genomes	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:91968446G>A	uc010fho.1	+	1		c.777G>A								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		GAGGGCTGTCGGTGGCAGTGC	0.652000														14			6		0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045416	76045416	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:76045416C>T	uc001xrs.2	+	0	477	c.101C>T	c.(100-102)tCg>tTg	p.S34L		NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	34	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCAGCGTCTCGGTCCATCCC	0.642000														24			68		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238289841	238289841	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:238289841C>T	uc002vwl.2	-	4	1899	c.1614G>A	c.(1612-1614)acG>acA	p.T538T	COL6A3_uc002vwo.2_Silent_p.T332T|COL6A3_uc010znj.1_Silent_p.T131T|COL6A3_uc002vwq.3_Silent_p.T332T|COL6A3_uc002vwr.3_Silent_p.T131T|COL6A3_uc010znk.1_Silent_p.T538T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	538	Nonhelical region.|VWFA 3.		T -> M (in dbSNP:rs34741387).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.T538K(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCTGAACTCGTGAATAGGT	0.557000														75			56		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50732569	50732569	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:50732569T>C	uc001jhs.4	-	4	1061	c.907A>G	c.(907-909)Acg>Gcg	p.T303A	ERCC6_uc001jht.3_5'UTR|ERCC6_uc009xoe.3_Missense_Mutation_p.T303A|ERCC6_uc001jhu.3_Missense_Mutation_p.T303A	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	303					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCTGGAGGCGTGACTGGGGCT	0.423000								Direct reversal of damage;Nucleotide excision repair (NER)						94			58		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175496	51175496	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:51175496C>T	uc021tif.1	-	1	668	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	SALL1_uc021tid.1_Missense_Mutation_p.E116K|SALL1_uc021tie.1_Missense_Mutation_p.E213K|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	213					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H116D(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CACCTCGCTTCCTGGGAGAAC	0.612000														17			49		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55021772	55021772	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:55021772C>T	uc003dhf.3	+	30	2730	c.2682C>T	c.(2680-2682)tcC>tcT	p.S894S	CACNA2D3_uc003dhg.1_Silent_p.S800S|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	894						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)		CAATGGGCTCCTTTAAAAGGT	0.403000														16			9		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150722465	150722465	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:150722465G>A	uc003lty.3	-	3	554	c.424C>T	c.(424-426)Cac>Tac	p.H142Y	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.H142Y|SLC36A2_uc011dct.1_Missense_Mutation_p.H142Y	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	142					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGAGCGTGATTCTGGAGC	0.527000														24			24		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563922	176563922	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:176563922C>T	uc001gkz.3	+	2	2346	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	PAPPA2_uc001gky.1_Silent_p.P394P|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	394					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G393C(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGTCTGGTCCCCTGAACAGCC	0.587000														7			45		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250386	140250386	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:140250386G>A	uc003lia.2	+	0	2556	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.A566A	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	581	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)			CACTGCTGGCGACTCAGGCTG	0.687000														79			56		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370649	240370649	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:240370649C>T	uc010pye.2	+	5	2774	c.2549C>T	c.(2548-2550)tCc>tTc	p.S850F	FMN2_uc010pyd.2_Missense_Mutation_p.S846F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	846	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G850C(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACTCTGTTTCCTCTGCCTTT	0.567000														13			80		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527216	6527216	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:6527216C>T	uc001iji.1	-	8	1099	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	PRKCQ_uc001ijj.2_Missense_Mutation_p.D306N|PRKCQ_uc009xim.2_Missense_Mutation_p.D306N|PRKCQ_uc009xin.2_Missense_Mutation_p.D270N|PRKCQ_uc010qax.2_Missense_Mutation_p.D181N	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	306					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGTTCAGTATCTCTTAAGCAG	0.512000														72			50		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26690266	26690266	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:26690266G>A	uc002rhk.3	-	33	4321	c.4194C>T	c.(4192-4194)ccC>ccT	p.P1398P	OTOF_uc010yla.2_Silent_p.P128P|OTOF_uc002rhh.3_Silent_p.P631P|OTOF_uc002rhi.3_Silent_p.P708P|OTOF_uc002rhj.3_Silent_p.P631P	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1398					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.E1399fs*123(1)|p.E632fs*123(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTTCTCGGGGGCCTCGG	0.577000														24			49		0	0	1	0	0
KIAA0895	23366	broad.mit.edu	37	7	36373727	36373727	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:36373727C>T	uc003tfd.2	-	4	1095	c.1044G>A	c.(1042-1044)tgG>tgA	p.W348*	KIAA0895_uc003tfc.2_Nonsense_Mutation_p.W335*|KIAA0895_uc011kax.1_Nonsense_Mutation_p.W345*|KIAA0895_uc003tfb.2_Nonsense_Mutation_p.W297*|KIAA0895_uc011kaw.2_Nonsense_Mutation_p.W245*	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA.	348										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCAACTGTTCCATGGCTGCT	0.378000														47			41		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123301320	123301320	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:123301320G>A	uc003ieo.3	+	2	328	c.96G>A	c.(94-96)acG>acA	p.T32T	ADAD1_uc003iep.3_Silent_p.T32T|ADAD1_uc003ieq.3_Silent_p.T14T	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	32					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.K31K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGACAAAGACGATAACTACAC	0.468000														14			25		0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802855	31802855	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr21:31802855C>T	uc011acw.2	+	0	262	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA.	88						intermediate filament		p.R88W(2)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TCTAGGCTTTCGGTCCAGCAG	0.587000														29			19		0	0	1	0	0
PRLH	51052	broad.mit.edu	37	2	238475760	238475760	+	Missense_Mutation	SNP	G	A	A	rs144703716		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:238475760G>A	uc010znl.2	+	1	206	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_015893	NP_056977	P81277	PRRP_HUMAN	Homo sapiens prolactin releasing hormone (PRLH), mRNA.	69						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		CCTGGCCTGCGACCCCGGCTG	0.662000														28			28		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888123	34888123	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:34888123C>T	uc003teh.1	+	7	1001	c.873C>T	c.(871-873)ttC>ttT	p.F291F	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.F291F|NPSR1_uc010kwt.1_Silent_p.F138F|NPSR1_uc010kwu.1_Silent_p.F81F|NPSR1_uc010kwv.1_Silent_p.F225F|NPSR1_uc003tei.1_Silent_p.F291F|NPSR1_uc010kww.1_Silent_p.F280F|NPSR1_uc011kar.1_Silent_p.F225F	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	291						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GTCCATACTTCCTGTTTGACA	0.493000														164			105		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135587547	135587547	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:135587547C>T	uc003lbn.2	-	5	1591	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	TRPC7_uc010jef.2_Missense_Mutation_p.E393K|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.E8K|TRPC7_uc010jeh.2_Missense_Mutation_p.E396K|TRPC7_uc010jei.2_Missense_Mutation_p.E341K	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	457					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)			TCCCAGATTTCCTTGCATTCG	0.542000														32			21		0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137329785	137329785	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:137329785G>A	uc003qhj.3	-	4	1108	c.675C>T	c.(673-675)ccC>ccT	p.P225P	IL20RA_uc011edl.2_Silent_p.P176P|IL20RA_uc003qhk.3_Silent_p.P114P|IL20RA_uc003qhi.3_5'UTR	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	225	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CACGGCGAGGGGGCCCTGGGA	0.537000														65			33		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183013108	183013108	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:183013108G>A	uc003fli.1	-	12	1745	c.1655C>T	c.(1654-1656)aCc>aTc	p.T552I	MCF2L2_uc003flj.1_Missense_Mutation_p.T552I|MCF2L2_uc011bqr.1_Non-coding_Transcript|BC013229_uc003fln.1_Intron|BC040935_uc003flo.3_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	552					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGGCTGGCTGGTTTTTGATGA	0.493000														48			28		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113649061	113649061	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:113649061G>A	uc003ynu.3	-	21	3859	c.3700C>T	c.(3700-3702)Ctg>Ttg	p.L1234L	CSMD3_uc003yns.3_Silent_p.L506L|CSMD3_uc003ynt.3_Silent_p.L1194L|CSMD3_uc011lhx.2_Silent_p.L1130L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1234	Sushi 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACCTTGGCAGAGGTGCACTC	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				13			19		0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9868696	9868696	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:9868696G>A	uc002mmb.1	-	5	1588	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	ZNF846_uc021uoq.1_Intron|ZNF846_uc010dww.3_Intron|ZNF846_uc002mmc.1_Missense_Mutation_p.L224F	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	Homo sapiens zinc finger protein 846 (ZNF846), mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TGTTTTGTAAGGTATGAGGAA	0.388000														41			26		0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160135717	160135718	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:160135717_160135718CC>TG	uc003fdh.3	+	10	1757_1758	c.1644_1645CC>TG	c.(1642-1647)ctccct>ctTGct	p.P549A	IFT80_uc003fda.3_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.P313A|SMC4_uc003fdi.3_Missense_Mutation_p.P524A|SMC4_uc003fdj.3_Missense_Mutation_p.P549A|SMC4_uc010hwd.3_Missense_Mutation_p.P549A|SMC4_uc003fdl.3_Missense_Mutation_p.P252A	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	549					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGGAAAACTCCCTCAAACTGA	0.371000														25			14		0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110951451	110951451	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:110951451C>T	uc011msy.2	+	3	681	c.580C>T	c.(580-582)Cct>Tct	p.P194S	ALG13_uc011msw.2_Missense_Mutation_p.P116S|ALG13_uc011msx.2_Missense_Mutation_p.P90S|ALG13_uc011msz.2_Missense_Mutation_p.P116S|ALG13_uc011mta.2_Missense_Mutation_p.P90S|ALG13_uc011mtb.2_Missense_Mutation_p.P90S	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	194					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						CGCTTTTTTTCCTCTCCCTCT	0.468000														43			30		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378934	92378934	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:92378934G>A	uc003yez.3	+	13	1854	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	SLC26A7_uc003yex.3_Missense_Mutation_p.D539N|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.D539N	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	539	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCCACTTGATGATATCAGCAA	0.313000														65			12		0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112462317	112462317	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:112462317G>A	uc011kms.1	-	5	905	c.778C>T	c.(778-780)Cct>Tct	p.P260S	C7orf60_uc003vgo.1_Missense_Mutation_p.P234S	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	234										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AGCTCTCCAGGAAGAGAATCA	0.423000														27			23		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472825	39472825	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:39472825C>T	uc003thb.2	+	7	1319	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	POU6F2_uc022acb.1_Silent_p.I392I	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	392	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAACCAGATCCTGCCCGTGA	0.607000														43			18		0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57618848	57618848	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:57618848G>A	uc004dvd.3	+	0	580	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_007157	NP_009088	P98169	ZXDB_HUMAN	Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E122K(1)|p.E123A(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GGAGGCCGAGGAGGGCCCGGG	0.746000														5			6		0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69595988	69595988	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:69595988G>A	uc004dyg.3	+	17	2105	c.1962G>A	c.(1960-1962)atG>atA	p.M654I	KIF4A_uc010nkw.3_Missense_Mutation_p.M654I|KIF4A_uc004dyf.2_Missense_Mutation_p.M654I	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	654					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TGCGTCAAATGAAAGAAGATG	0.363000														39			25		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70966516	70966516	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:70966516C>T	uc003pfg.4	-	20	1617	c.1458G>A	c.(1456-1458)cgG>cgA	p.R486R	COL9A1_uc003pfe.4_Silent_p.R59R|COL9A1_uc003pff.4_Silent_p.R243R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	486	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CATCTAAGCCCCGAGCACCCT	0.393000														20			16		0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50615729	50615729	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:50615729C>T	uc003bjn.4	+	1	588	c.588C>T	c.(586-588)atC>atT	p.I196I	PANX2_uc003bjp.4_Silent_p.I62I|PANX2_uc003bjo.4_Silent_p.I196I	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	196					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GCGAGATCATCGAGAACGCGG	0.657000														6			17		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151873700	151873700	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:151873700G>A	uc003wla.3	-	37	9057	c.8838C>T	c.(8836-8838)tcC>tcT	p.S2946S	MLL3_uc003wkz.3_Silent_p.S2007S|MLL3_uc003wky.3_Silent_p.S455S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2946					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GATTGGATGGGGAGGCCGGCA	0.468000			N		medulloblastoma									28			16		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722144	196722144	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:196722144C>T	uc002utj.4	-	43	8472	c.8371G>A	c.(8371-8373)Gaa>Aaa	p.E2791K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2791	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E2791K(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CACAGACCTTCGGCCGCTGTA	0.368000														37			25		0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107224914	107224914	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:107224914C>T	uc004enn.1	-	1	537	c.444G>A	c.(442-444)tgG>tgA	p.W148*		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	148										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GGAAGAGCTTCCATCTCAGCA	0.592000														58			40		0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045863	26045863	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:26045863C>T	uc003nfv.3	+	0	225	c.225C>T	c.(223-225)atC>atT	p.I75I	HIST1H2BB_uc003nfu.3_5'Flank	NM_003531	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3c (HIST1H3C), mRNA.	75					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						TGCGAGAAATCGCCCAGGACT	0.627000														15			55		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666389	12666389	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:12666389G>A	uc002gno.2	+	14	2689	c.2390_splice	c.e14-1	p.E797_splice	MYOCD_uc002gnn.2_Splice_Site_p.E749_splice|MYOCD_uc002gnq.2_Splice_Site_p.E473_splice	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	749					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	p.?(1)		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)		ATTGCCCACAGAAATGCCAGC	0.463000														10			27		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900988	51900988	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:51900988G>A	uc002iua.2	+	0	750	c.594G>A	c.(592-594)ctG>ctA	p.L198L	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	198					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAGGCACCTGGACAGCAGCA	0.562000														55			27		0	0	1	0	0
FTSJD1	55783	broad.mit.edu	37	16	71318599	71318599	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:71318599G>A	uc021tkr.1	-	0	1225	c.1225C>T	c.(1225-1227)Caa>Taa	p.Q409*	FTSJD1_uc010cga.3_Nonsense_Mutation_p.Q409*|FTSJD1_uc002ezy.4_Nonsense_Mutation_p.Q409*|FTSJD1_uc002ezz.4_Nonsense_Mutation_p.Q409*	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	409						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTTTCAGTTGAAATTTTTGC	0.308000														6			13		0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172926379	172926379	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:172926379C>T	uc002uhk.3	+	1	267	c.194C>T	c.(193-195)cCt>cTt	p.P65L	METAP1D_uc010zdw.2_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA.	65					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CATCCGGTTCCTAAGGTACTG	0.388000														147			103		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903280	5903280	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:5903280G>A	uc002wmg.3	+	3	796	c.490G>A	c.(490-492)Gat>Aat	p.D164N	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	164	Poly-Glu.					extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAGAGAGAGGATGAGGAGGA	0.547000														24			29		0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84691051	84691052	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:84691051_84691052CC>TT	uc002fig.3	+	2	779_780	c.638_639CC>TT	c.(637-639)gcc>gTT	p.A213V	KLHL36_uc010chl.3_Missense_Mutation_p.A212V	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	213	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTCCTGCAGGCCGCCCTGCAGT	0.649000														4			11		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232149	21232149	+	Missense_Mutation	SNP	C	T	T	rs149358359	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:21232149C>T	uc002red.3	-	25	7719	c.7591G>A	c.(7591-7593)Gaa>Aaa	p.E2531K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2531					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGTTGAAGTTCCTGCTGAATG	0.453000														95			40		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10428176	10428176	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:10428176G>A	uc003bvt.3	-	6	1367	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F	ATP2B2_uc003bvv.3_Intron|ATP2B2_uc003bvw.3_Intron|ATP2B2_uc010hdo.3_Intron	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	310					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTAGCTGAAGGCCATCCCCC	0.522000														29			27		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842403	123842403	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:123842403G>A	uc001lfv.3	+	3	748	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.E130K|TACC2_uc010qtv.2_Missense_Mutation_p.E130K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	130						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCGGCACCTGAAGATGGTCC	0.642000														39			24		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188933	98188933	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:98188933G>A	uc003dsm.3	+	0	513	c.513G>A	c.(511-513)tcG>tcA	p.S171S		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G170A(1)|p.S171T(1)|p.S171L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTGTGGATCGAATCACATCA	0.398000														148			100		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7833749	7833749	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:7833749G>A	uc010dvt.3	+	6	1193	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	CLEC4M_uc002mih.3_Missense_Mutation_p.E336K|CLEC4M_uc010xjw.2_Missense_Mutation_p.E292K|CLEC4M_uc010dvs.3_Missense_Mutation_p.E335K|CLEC4M_uc010xjx.2_Missense_Mutation_p.E308K|CLEC4M_uc002mhz.3_Missense_Mutation_p.R229K|CLEC4M_uc002mic.3_Missense_Mutation_p.R293K|CLEC4M_uc002mia.3_Missense_Mutation_p.E223K	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	359	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GAACAGTGGAGAACCCAACAA	0.502000														73			30		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52944959	52944959	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:52944959C>T	uc003gzl.3	+	7	1357	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.S328L|SPATA18_uc003gzk.1_Missense_Mutation_p.S360L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	360					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.K359I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTGAGAAAATCGTTGACACCA	0.378000														50			51		0	0	1	0	0
DRAM2	128338	broad.mit.edu	37	1	111667448	111667448	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:111667448C>T	uc001ead.4	-	4	512	c.255G>A	c.(253-255)gaG>gaA	p.E85E	DRAM2_uc001eae.4_Silent_p.E85E|DRAM2_uc009wfy.3_Non-coding_Transcript	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	Homo sapiens DNA-damage regulated autophagy modulator 2 (DRAM2), mRNA.	85					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						TGATAACGTTCTCTTCAGGAC	0.363000														34			27		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853752	51853752	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:51853752G>A	uc001rys.1	+	7	1051	c.873G>A	c.(871-873)atG>atA	p.M291I	SLC4A8_uc010sni.2_Missense_Mutation_p.M238I|SLC4A8_uc001rym.3_Missense_Mutation_p.M238I|SLC4A8_uc001ryn.3_Missense_Mutation_p.M238I|SLC4A8_uc001ryo.2_Missense_Mutation_p.M238I|SLC4A8_uc001ryp.1_Missense_Mutation_p.M238I|SLC4A8_uc010snj.2_Missense_Mutation_p.M318I|SLC4A8_uc001ryq.4_Missense_Mutation_p.M291I|SLC4A8_uc001ryr.3_Missense_Mutation_p.M291I|SLC4A8_uc010snk.2_Missense_Mutation_p.M238I	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	291					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.F290F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTCATTTCATGAAAAAAATTC	0.413000														96			56		0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66291262	66291262	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:66291262C>T	uc001oii.1	+	10	1208	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	BBS1_uc001oil.1_Intron|BBS1_uc010rpg.1_Missense_Mutation_p.S243F|BBS1_uc001oij.1_Missense_Mutation_p.S340F|BBS1_uc001oik.1_Missense_Mutation_p.S264F|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Missense_Mutation_p.S8F	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	340					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GAGCAGCATTCCCGGGGCCTG	0.632000									Bardet-Biedl syndrome					111			17		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150873259	150873259	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:150873259G>A	uc003wjm.1	-	4	1605	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L	ASB10_uc003wjl.1_Silent_p.L410L|ASB10_uc003wjn.1_Silent_p.L433L	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	448	SOCS box.				intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGGCAGGGGGAGGCGGGGCA	0.677000														18			15		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231273	7231273	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:7231273G>A	uc010wzk.2	+	0	137	c.137G>A	c.(136-138)cGg>cAg	p.R46Q		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	46										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGCTGAAGCGGGGCATGCAC	0.597000														46			38		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35944221	35944221	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:35944221G>A	uc004ddj.3	+	1	403	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	113								p.E113Q(2)		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						TGATAAAGACGAAGACACTTT	0.373000														24			18		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306568	41306568	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:41306568C>T	uc002xkg.3	-	6	1275	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	PTPRT_uc010ggj.3_Missense_Mutation_p.R364Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	364	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCACCTGGTCGTGTGAGGAG	0.562000														46			41		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71061540	71061540	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:71061540C>T	uc002ezr.3	-	19	3158	c.3007G>A	c.(3007-3009)Gat>Aat	p.D1003N	HYDIN_uc010cfz.2_Missense_Mutation_p.D748N|HYDIN_uc021tkq.1_Missense_Mutation_p.D1003N	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1003										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTATCACATCAATTGCCTGG	0.512000														4			17		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284716	52284716	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:52284716C>T	uc001rzd.3	+	4	1164	c.986C>T	c.(985-987)cCt>cTt	p.P329L	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.P204L|ANKRD33_uc001rze.3_Missense_Mutation_p.P225L|ANKRD33_uc001rzg.4_Missense_Mutation_p.P131L|ANKRD33_uc001rzi.4_Missense_Mutation_p.P204L	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	204										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ACTCTGTGCCCTGACCATCCA	0.662000														21			17		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45679424	45679424	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr21:45679424G>A	uc002zeg.1	-	4	724	c.240C>T	c.(238-240)ttC>ttT	p.F80F	DNMT3L_uc002zeh.1_Silent_p.F80F	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	80	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GGGCATCCAGGAACTTGTCCT	0.577000														37			27		0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17276785	17276785	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:17276785C>T	uc001iou.2	+	5	1389	c.976C>T	c.(976-978)Ctc>Ttc	p.L326F		NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	326	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGTGCAGTCCCTCACCTGTGA	0.532000														49			37		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19625527	19625527	+	RNA	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr13:19625527C>T	uc001umb.1	-	7		c.2996G>A								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		CTGGGACTCCCTTTTTGATGT	0.567000														15			9		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541592	133541592	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:133541592G>A	uc002ttp.3	-	13	3166	c.2792C>T	c.(2791-2793)cCc>cTc	p.P931L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	931	Poly-Pro.			PP -> QS (in Ref. 5; BAA22433).			protein binding	p.P931H(2)|p.P930P(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCTGGAGGGGGCGGAGGGGA	0.622000														14			13		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784073	151784073	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:151784073G>A	uc003luv.2	-	0	768	c.602C>T	c.(601-603)tCg>tTg	p.S201L		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	201					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACAGGTGGCCGAACCTGGGAC	0.552000														89			63		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784699	140784699	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:140784699C>A	uc003lkh.2	+	0	2180	c.2180C>A	c.(2179-2181)gCt>gAt	p.A727D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.A727D	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	719					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)			CTGCTGCGGGCTACCAGTGAT	0.582000														44			48		3.05275e-18	3.06873e-18	1	1	0
FBXO40	51725	broad.mit.edu	37	3	121341459	121341459	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:121341459C>T	uc003eeg.2	+	2	1393	c.1183C>T	c.(1183-1185)Ctc>Ttc	p.L395F		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	395					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAAATCAGATCTCATCAAGAC	0.478000														58			41		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703593	55703593	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:55703593G>A	uc010ris.2	-	0	284	c.284C>T	c.(283-285)tCc>tTc	p.S95F		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCATAATAGGAAATAGATTT	0.408000														27			14		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114326902	114326902	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:114326902C>T	uc003ynu.3	-	1	458	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	CSMD3_uc003ynt.3_Missense_Mutation_p.R60Q|CSMD3_uc011lhx.2_Missense_Mutation_p.R100Q|CSMD3_uc010mcx.1_Missense_Mutation_p.R100Q|CSMD3_uc003ynx.4_Missense_Mutation_p.R100Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	100	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATTCTATTTCGTTCTTCTGC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				57			7		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90124847	90124847	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:90124847G>A	uc003kju.3	+	76	16551	c.16455G>A	c.(16453-16455)caG>caA	p.Q5485Q	GPR98_uc003kjt.3_Silent_p.Q3191Q|GPR98_uc003kjw.3_Silent_p.Q1146Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5485					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)		GATTCGCACAGATTAAAATCT	0.418000														64			41		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29111185	29111185	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:29111185A>T	uc002kwu.4	+	8	1438	c.1250A>T	c.(1249-1251)gAt>gTt	p.D417V		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	417	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAAGCTTTTGATGAGGACACT	0.353000														54			46		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922356	13922356	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:13922356G>A	uc003jfd.2	-	4	562	c.520C>T	c.(520-522)Cct>Tct	p.P174S	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	174	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)					CTGAGAGCAGGAATGAAGATG	0.552000									Kartagener syndrome					35			12		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477824	88477824	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:88477824G>A	uc021rxh.1	+	0	633	c.633G>A	c.(631-633)cgG>cgA	p.R211R	GPR65_uc001xvv.3_Silent_p.R211R	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	211					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						AAGCTGTGCGGCACAATAAAG	0.423000														11			29		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774848	47774848	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:47774848C>T	uc022bvq.1	+	4	1052	c.803C>T	c.(802-804)cCc>cTc	p.P268L	ZNF81_uc010nhy.2_Missense_Mutation_p.P268L	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	268						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GTGAAATTTCCCATTGGAGAG	0.398000														36			37		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714577	28714577	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:28714577C>T	uc002kwn.3	-	11	2096	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	DSC1_uc002kwm.3_Missense_Mutation_p.D612N	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	612	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCAGAATTATCCAGAAAGAAT	0.363000														17			8		0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65460504	65460504	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:65460504G>A	uc001ssk.3	-	5	1022	c.647C>T	c.(646-648)cCa>cTa	p.P216L		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	216	EGF-like 2.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CATACATCGTGGGGTACAAAG	0.423000			T	HMGA2	pleomorphic salivary gland adenoma									19			11		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164533	139164533	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:139164533C>T	uc003yuy.3	-	12	2356	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	FAM135B_uc003yux.3_Missense_Mutation_p.E630K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E291K|FAM135B_uc003yvb.3_Missense_Mutation_p.E291K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	729										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)			TGTCCACCCTCTAGGGAGTTC	0.562000										HNSCC(54;0.14)				9			6		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68675694	68675694	+	Missense_Mutation	SNP	C	T	T	rs147001168		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:68675694C>T	uc001ook.1	+	2	440	c.338C>T	c.(337-339)tCg>tTg	p.S113L	IGHMBP2_uc001ooj.1_Non-coding_Transcript	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	113					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCCAGAAGTCGGTCACGGTG	0.512000														77			326		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915832	26915832	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:26915832C>T	uc003jgs.1	-	2	598	c.429G>A	c.(427-429)tcG>tcA	p.S143S	CDH9_uc010iug.3_Silent_p.S143S	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	143	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S143S(2)|p.E142*(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGATAAATTCCGATTCCGGTT	0.398000														70			61		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803168	54803168	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:54803168G>A	uc002qfd.3	-	3	601	c.509C>T	c.(508-510)tCc>tTc	p.S170F	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	169	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGGGAATGGGAGTTCAGGCA	0.562000														77			56		0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14034157	14034157	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:14034157C>T	uc002mxo.2	+	14	1952	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	CC2D1A_uc002mxp.2_Silent_p.A551A|CC2D1A_uc010dzh.2_Silent_p.A120A|CC2D1A_uc002mxq.1_Silent_p.A196A	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	551					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGCCGCCTGCCCCTGTCAACA	0.647000														44			38		0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105526452	105526452	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:105526452G>C	uc003pqv.1	+	3	750	c.547G>C	c.(547-549)Gaa>Caa	p.E183Q	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	183					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ACAGGAAGCAGAATCCCAGCC	0.542000														33			24		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852460	137852460	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:137852460C>T	uc002tva.1	+	2	875	c.875C>T	c.(874-876)tCc>tTc	p.S292F	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S182F	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTCAAGATTCCTTCCCATTG	0.448000														62			44		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61926409	61926409	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:61926409G>A	uc001jky.3	-	22	2892	c.2554C>T	c.(2554-2556)Cgt>Tgt	p.R852C	ANK3_uc001jkx.3_Missense_Mutation_p.R30C|ANK3_uc010qih.2_Missense_Mutation_p.R835C|ANK3_uc001jkz.4_Missense_Mutation_p.R846C|ANK3_uc001jlb.1_Intron|ANK3_uc001jlc.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	852					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGGCTTTACGAACTGCATGA	0.318000														25			15		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388731	48388731	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:48388731G>A	uc001jez.3	-	0	2261	c.2147C>T	c.(2146-2148)cCa>cTa	p.P716L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	716	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)	AGCAGGGGGTGGTGGGGGTGC	0.627000														20			28		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873772	91873772	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:91873772G>A	uc004efk.2	+	6	4722	c.3877G>A	c.(3877-3879)Gat>Aat	p.D1293N	PCDH11X_uc004efl.2_Missense_Mutation_p.D1283N|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Missense_Mutation_p.D1285N|PCDH11X_uc004efn.2_Missense_Mutation_p.D1275N|PCDH11X_uc004efo.2_Missense_Mutation_p.D1256N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1293					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						ATGCTCTGTTGATCAGGGAGT	0.468000														167			117		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102104	29102104	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:29102104G>A	uc002kwu.4	+	5	770	c.582G>A	c.(580-582)tcG>tcA	p.S194S		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	194	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S194S(2)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCCTGAATTCGAAAATTTCCT	0.368000														37			20		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15658923	15658923	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:15658923G>A	uc002nbh.4	+	10	1308	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	381						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCCCAGGGACGATCTGACTCA	0.532000														78			46		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175082	51175082	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:51175082G>A	uc021tif.1	-	1	1082	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S	SALL1_uc021tid.1_Missense_Mutation_p.P254S|SALL1_uc021tie.1_Missense_Mutation_p.P351S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	351					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAGAGGACGGGGTGGTAACT	0.517000														16			45		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825136	26825136	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:26825136G>A	uc001iss.3	+	9	1355	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	APBB1IP_uc009xks.1_Missense_Mutation_p.G345E	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	345	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GTACCCAAAGGAAAGACTAAG	0.328000														73			46		0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27571035	27571035	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:27571035G>C	uc001rht.2	+	15	1899	c.1680G>C	c.(1678-1680)gaG>gaC	p.E560D	ARNTL2_uc001rhu.2_Missense_Mutation_p.E546D|ARNTL2_uc001rhv.2_Missense_Mutation_p.E512D|ARNTL2_uc001rhw.3_Missense_Mutation_p.E523D|ARNTL2_uc010sjp.2_Intron|ARNTL2_uc009zji.2_Missense_Mutation_p.E526D|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	560					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAAATAAGGAGTTGTTTCCAC	0.403000														37			22		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50052246	50052246	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:50052246G>A	uc004dox.4	+	5	1375	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	CCNB3_uc004doy.3_Silent_p.E359E|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	359					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ACTTTAAAGAGGATTCCCTTG	0.433000														68			38		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246467	65246467	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:65246467G>A	uc001xht.3	-	19	4500	c.4449C>T	c.(4447-4449)atC>atT	p.I1483I	SPTB_uc001xhr.3_Silent_p.I1483I|SPTB_uc001xhs.3_Silent_p.I1483I|SPTB_uc001xhu.3_Silent_p.I1483I|SPTB_uc010aqi.3_Silent_p.I144I	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1483					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.I1483I(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGTCCCGGCTGATCTGCAGCT	0.592000														17			52		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841694	5841694	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:5841694G>A	uc010qzp.2	+	0	129	c.129G>A	c.(127-129)ggG>ggA	p.G43G	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V42A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCGTGGGGAACTGTGGGC	0.547000														56			44		0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12447433	12447433	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:12447433G>A	uc003bwx.3	+	4	763	c.672G>A	c.(670-672)gaG>gaA	p.E224E	PPARG_uc003bwr.3_Silent_p.E196E|PPARG_uc003bws.3_Silent_p.E196E|PPARG_uc003bwu.3_Silent_p.E196E|PPARG_uc003bwv.3_Silent_p.E196E|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Silent_p.E196E|PPARG_uc003bww.1_Silent_p.E224E	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	224	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.A223A(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TGTTGGCGGAGATCTCCAGTG	0.512000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							46			29		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515125	233515125	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:233515125C>T	uc001hvt.4	+	8	2634	c.2373C>T	c.(2371-2373)ccC>ccT	p.P791P	KIAA1804_uc001hvu.4_Silent_p.P237P	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	791					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCAGCCCACCCTCCCTGCCAC	0.602000														10			31		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6100193	6100193	+	Silent	SNP	T	G	G			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:6100193T>G	uc002wmr.3	-	1	798	c.9A>C	c.(7-9)tcA>tcC	p.S3S	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Silent_p.S3S	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	3					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AGTCAGTGGATGACAGCATTG	0.488000														21			17		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451765	55451765	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:55451765C>T	uc002qih.4	-	3	498	c.422G>A	c.(421-423)gGa>gAa	p.G141E	NLRP7_uc010esk.3_Missense_Mutation_p.G141E|NLRP7_uc002qig.4_Missense_Mutation_p.G141E|NLRP7_uc002qii.4_Missense_Mutation_p.G141E|NLRP7_uc010esl.3_Missense_Mutation_p.G169E	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	141							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)		GTCAATGTCTCCTTGCCAAAA	0.463000														248			151		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61973199	61973199	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:61973199G>A	uc001jky.3	-	8	1305	c.967C>T	c.(967-969)Cga>Tga	p.R323*	ANK3_uc010qih.2_Nonsense_Mutation_p.R306*|ANK3_uc001jkz.4_Nonsense_Mutation_p.R317*|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	323					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGGGCAGCTCGATCAAGCAAC	0.418000														27			20		0	0	1	0	0
OR9G9	390174	broad.mit.edu	37	11	56468355	56468355	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:56468355C>T	uc010rjn.2	+	0	492	c.492C>T	c.(490-492)tcC>tcT	p.S164S	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										AAACGTTTTCCTTTAACTTCT	0.438000														110			17		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32037503	32037503	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:32037503G>A	uc003nzl.2	-	14	5616	c.5414C>T	c.(5413-5415)tCc>tTc	p.S1805F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1887	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GACCACAAAGGAGTCAAACTG	0.672000														1			17		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29601028	29601028	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr13:29601028G>A	uc001usl.4	+	0	2281	c.2223G>A	c.(2221-2223)aaG>aaA	p.K741K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	731	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGAGTGAAAAGTTTTTGCAGG	0.408000														60			16		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171356256	171356256	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:171356256G>A	uc002ufy.3	+	26	3370	c.3227G>A	c.(3226-3228)gGa>gAa	p.G1076E	MYO3B_uc002ufv.3_Missense_Mutation_p.G1063E|MYO3B_uc010fqb.1_Missense_Mutation_p.G1076E|MYO3B_uc002ufz.3_Missense_Mutation_p.G1076E|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1076	IQ 1.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGTGGCTTGGAGCCAGGAGA	0.458000														27			34		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35763107	35763107	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:35763107G>A	uc011axy.2	+	11	1116	c.904G>A	c.(904-906)Gat>Aat	p.D302N	ARPP21_uc003cga.3_Missense_Mutation_p.D282N|ARPP21_uc003cgb.3_Missense_Mutation_p.D336N|ARPP21_uc003cgf.3_Missense_Mutation_p.D137N|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	336						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGGCAACAGAGATGGCTCAGG	0.532000														11			10		0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33373044	33373044	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:33373044T>C	uc003oef.4	+	6	1622	c.1172T>C	c.(1171-1173)aTt>aCt	p.I391T	KIFC1_uc011drf.2_Missense_Mutation_p.I383T	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	391	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TTTGAAGAGATTGCCATGCTT	0.552000														13			86		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089612	9089612	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:9089612C>T	uc002mkp.3	-	0	2407	c.2203G>A	c.(2203-2205)Gat>Aat	p.D735N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	735	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						GACACTTTATCCTCAAGAACT	0.483000														56			50		0	0	1	0	0
SLC25A5	292	broad.mit.edu	37	X	118604373	118604373	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:118604373C>T	uc004erh.4	+	2	752	c.636C>T	c.(634-636)atC>atT	p.I212I	SLC25A5-AS1_uc022cdj.1_5'Flank|SLC25A5-AS1_uc004ere.1_5'Flank|SLC25A5-AS1_uc004erg.1_5'Flank	NM_001152	NP_001143	P05141	ADT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 (SLC25A5), nuclear gene encoding mitochondrial protein, mRNA.	212					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	MMXD complex|integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	ACATCGTCATCAGCTGGATGA	0.498000														60			38		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62023696	62023697	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:62023696_62023697CC>TT	uc001jky.3	-	5	933_934	c.595_596GG>AA	c.(595-597)gga>AAa	p.G199K	ANK3_uc010qih.2_Missense_Mutation_p.G182K|ANK3_uc001jkz.4_Missense_Mutation_p.G193K|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	199					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACGCACTTTTCCTTTGGTGTCA	0.520000														26			15		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436359	248436359	+	Missense_Mutation	SNP	G	A	A	rs113574656	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:248436359G>A	uc010pzi.2	-	0	758	c.758C>T	c.(757-759)gCc>gTc	p.A253V		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A253V(2)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGTAAAAATGGCAGCTCCATA	0.498000														38			134		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85447645	85447645	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:85447645G>A	uc010rth.2	-	4	871	c.482C>T	c.(481-483)cCg>cTg	p.P161L	SYTL2_uc010rtg.2_Missense_Mutation_p.P162L|SYTL2_uc010rti.2_Missense_Mutation_p.P161L|SYTL2_uc010rtj.2_Missense_Mutation_p.P113L|SYTL2_uc001pbf.4_Missense_Mutation_p.P161L|SYTL2_uc010rtf.2_Missense_Mutation_p.P19L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	161					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCTATTAAACGGATTCTTCCT	0.343000														62			16		0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57598943	57598943	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:57598943A>T	uc002yak.3	+	3	730	c.461A>T	c.(460-462)aAg>aTg	p.K154M		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	154					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CTCATGAACAAGATTAGAGAG	0.597000														71			55		0	0	1	0	0
DUS2L	54920	broad.mit.edu	37	16	68104927	68104928	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:68104927_68104928CC>TT	uc002evi.3	+	11	875_876	c.726_727CC>TT	c.(724-729)gcccga>gcTTga	p.R243*	DUS2L_uc002evj.3_Nonsense_Mutation_p.R243*|DUS2L_uc010vkk.2_Nonsense_Mutation_p.R208*	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	Homo sapiens dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) (DUS2L), mRNA.	243					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TGATGGTGGCCCGAGCAGCCAT	0.525000														12			33		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131046333	131046333	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:131046333G>A	uc003kvs.1	-	6	786	c.644C>T	c.(643-645)cCc>cTc	p.P215L	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Intron|RAPGEF6_uc010jdm.1_Missense_Mutation_p.P170L|RAPGEF6_uc003kvu.3_Missense_Mutation_p.P215L	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGCCCGCCTGGGGCTGCAGAA	0.517000														19			16		0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50307148	50307148	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:50307148G>A	uc003biy.3	-	2	454	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	60					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CGACTCCGGGGAACTCAAGAT	0.592000														40			18		0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112899684	112899685	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:112899684_112899685CC>TT	uc003kqn.3	+	19	2773_2774	c.2571_2572CC>TT	c.(2569-2574)atcctt>atTTtt	p.L858F		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	858							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGGACCCCATCCTTACAATTGC	0.431000														69			60		0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038210	139038210	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:139038210G>A	uc004fbb.3	-	2	953	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	311						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TCTAACTTACGAAAGGACCTG	0.368000														88			55		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147491423	147491423	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:147491423C>T	uc003lox.2	+	18	1858	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	SPINK5_uc010jgs.1_Silent_p.I567I|SPINK5_uc010jgr.2_Silent_p.I576I|SPINK5_uc003low.2_Silent_p.I595I|SPINK5_uc003loy.2_Silent_p.I595I	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	595	Kazal-like 9.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGAAAATCCACGGCAACA	0.527000														48			38		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16255397	16255397	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:16255397G>A	uc002den.4	-	24	3568	c.3531C>T	c.(3529-3531)ctC>ctT	p.L1177L	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1177	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CATTCCCCAGGAGCTCCACAT	0.607000														23			16		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129899843	129899843	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:129899843G>A	uc001lke.3	-	13	9579	c.9384C>T	c.(9382-9384)tcC>tcT	p.S3128S	MKI67_uc001lkf.3_Silent_p.S2768S	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	3128					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCATCTCTGGGGAGGTCTTCA	0.428000														84			43		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537566	54537566	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:54537566G>A	uc003dhf.3	+	4	477	c.429G>A	c.(427-429)ggG>ggA	p.G143G	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.G49G|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	143						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G143G(2)|p.D142D(1)		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)		ACAAAGACGGGAATTTTTTGG	0.398000														51			30		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42727939	42727939	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:42727939G>A	uc003clv.1	+	0	929	c.829G>A	c.(829-831)Gga>Aga	p.G277R		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	277										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGGGAAGGATGGAGCCGGGGC	0.597000														104			52		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43929760	43929760	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:43929760C>T	uc002xnn.2	-	4	1058	c.871G>A	c.(871-873)Gat>Aat	p.D291N	MATN4_uc002xnp.2_Intron|MATN4_uc002xno.2_Missense_Mutation_p.D250N|MATN4_uc010zwr.1_Missense_Mutation_p.D239N|MATN4_uc002xnr.1_Missense_Mutation_p.D291N	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	332	EGF-like 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTCCTCCCATCAGGCTGCAAG	0.572000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			24		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284430	118284430	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:118284430C>T	uc004era.4	-	0	113	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	38										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CGCTCGACTTCCAATCCTGGC	0.607000														39			22		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994460	994460	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:994460C>T	uc021qss.1	+	18	5913	c.5270C>T	c.(5269-5271)tCa>tTa	p.S1757L	WNK1_uc001qio.4_Missense_Mutation_p.S1497L|WNK1_uc021qst.1_Missense_Mutation_p.S1749L|WNK1_uc001qip.4_Missense_Mutation_p.S1250L|WNK1_uc001qir.4_Missense_Mutation_p.S670L	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1497					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCACCACTTCATTCCCAAGC	0.502000														139			96		0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141539280	141539280	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:141539280C>T	uc003vws.2	-	2	407	c.35_splice	c.e2-1	p.G12_splice	PRSS37_uc011krl.2_Splice_Site_p.G12_splice|PRSS37_uc011krk.2_Intron|PRSS37_uc003vwt.2_Splice_Site	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	12					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						AAAAATGTCCCTGAGAAAATA	0.368000														11			12		0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99683141	99683141	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:99683141G>A	uc001kou.2	-	3	794	c.438C>T	c.(436-438)acC>acT	p.T146T	CRTAC1_uc001kov.3_Silent_p.T146T|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	146						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACAACTTGTCGGTGTACGTGG	0.577000														34			36		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349665	36349665	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:36349665C>T	uc002ocb.4	+	3	633	c.421C>T	c.(421-423)Cct>Tct	p.P141S	KIRREL2_uc002obz.4_Missense_Mutation_p.P141S|KIRREL2_uc002oca.4_Missense_Mutation_p.P91S|KIRREL2_uc002ocd.4_Missense_Mutation_p.P138S	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	141	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane		p.P141P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			TGCTGGAGTTCCTGCGAACCT	0.612000														58			33		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30053379	30053379	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:30053379G>A	uc001zcr.3	-	7	1448	c.973C>T	c.(973-975)Cat>Tat	p.H325Y	TJP1_uc010azl.3_Missense_Mutation_p.H313Y|TJP1_uc001zcq.3_Missense_Mutation_p.H329Y|TJP1_uc001zcs.3_Missense_Mutation_p.H325Y	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	325					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGCCTGGAATGATCAGAAGGC	0.502000														39			17		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894480	166894480	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:166894480C>T	uc002udo.4	-	16	2979	c.2752G>A	c.(2752-2754)Gat>Aat	p.D918N	SCN1A_uc010fpk.3_Missense_Mutation_p.D890N|SCN1A_uc021vsb.1_Missense_Mutation_p.D907N	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	918						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAGACACAATCTTTGTAGCTT	0.507000														66			59		0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	176054928	176054928	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:176054928C>A	uc001gku.1	-	9	1381	c.1125G>T	c.(1123-1125)agG>agT	p.R375S	RFWD2_uc001gkv.1_Missense_Mutation_p.R351S|RFWD2_uc001gkw.1_Missense_Mutation_p.R135S|RFWD2_uc009wwv.2_Missense_Mutation_p.R174S|RFWD2_uc001gkt.1_Missense_Mutation_p.R214S	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	375					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T374I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TACGAGACATCCTTGTAGAAA	0.358000														44			32		2.1956e-27	2.21095e-27	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75037176	75037176	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:75037176C>T	uc001dgg.3	-	13	4437	c.4218G>A	c.(4216-4218)gaG>gaA	p.E1406E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1406	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGCTAATTCCTCTACCACCA	0.537000														18			99		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62036697	62036697	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:62036697G>A	uc002jds.1	-	11	2024	c.1947C>T	c.(1945-1947)atC>atT	p.I649I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	649					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGAGGGTGACGATGATGCTGT	0.552000														19			20		0	0	1	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4412726	4412726	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:4412726G>A	uc002cwf.3	-	14	1732	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.S210F|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.S430F|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.S412F|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.S345F|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.S210F|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Missense_Mutation_p.S210F	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		ACTGGGAGGGGAAGAGAAACC	0.667000														9			6		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366863	248366863	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:248366863C>T	uc010pzg.2	+	0	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S165S(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAACATTTTCCTTCTCCTAC	0.433000														40			346		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812212	156812212	+	Missense_Mutation	SNP	C	T	T	rs149316482	by1000genomes	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:156812212C>T	uc010pht.2	-	17	3514	c.3215G>A	c.(3214-3216)cGa>cAa	p.R1072Q	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1072	Protein kinase.				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)					CCGCAAAGATCGAAGATGGCT	0.592000														8			83		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59323751	59323751	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:59323751C>T	uc002afv.3	+	1	1009	c.730C>T	c.(730-732)Cga>Tga	p.R244*	RNF111_uc002afs.3_Nonsense_Mutation_p.R244*|RNF111_uc002aft.3_Nonsense_Mutation_p.R244*|RNF111_uc002afu.3_Nonsense_Mutation_p.R244*|RNF111_uc002afw.3_Nonsense_Mutation_p.R244*	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	244	Interaction with AXIN1.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AGTGTTAGCTCGAAGAAAATA	0.388000														69			61		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897790	175897790	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:175897790G>A	uc003iuc.3	+	4	1784	c.1114G>A	c.(1114-1116)Ggt>Agt	p.G372S	ADAM29_uc003iud.3_Missense_Mutation_p.G372S|ADAM29_uc010irr.3_Missense_Mutation_p.G372S|ADAM29_uc011cki.2_Missense_Mutation_p.G372S|ADAM29_uc021xuo.1_Missense_Mutation_p.G372S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	372	Peptidase M12B.				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)		TTGTAGTTATGGTGATTTTTG	0.398000														68			16		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33577051	33577051	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:33577051G>A	uc003jia.1	-	18	3243	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S942F	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1027	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGGGCCTGGATGTAGGTGG	0.527000										HNSCC(64;0.19)				70			40		0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178359120	178359120	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:178359120C>T	uc003mjn.1	+	4	1315	c.806C>T	c.(805-807)cCc>cTc	p.P269L	ZFP2_uc010jky.2_Missense_Mutation_p.P269L|ZFP2_uc010jkx.1_Missense_Mutation_p.P269L|ZFP2_uc021yjb.1_Missense_Mutation_p.P269L	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GGAGAAAAACCCTATGAGTGT	0.383000														48			27		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111966211	111966211	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:111966211C>T	uc001eba.3	-	4	493	c.437G>A	c.(436-438)aGa>aAa	p.R146K	OVGP1_uc001eaz.3_Missense_Mutation_p.R108K|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.R136K	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	146					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGGGCTGCCTCTTAGTCCAGG	0.403000														11			52		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431785	56431785	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:56431785C>T	uc010rjm.2	+	0	624	c.624C>T	c.(622-624)ttC>ttT	p.F208F	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E207K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCATTGAATTCAGCACCATCC	0.473000														71			55		0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128707752	128707752	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:128707752C>T	uc003elj.4	-	2	468	c.272G>A	c.(271-273)gGa>gAa	p.G91E	KIAA1257_uc003elg.1_Missense_Mutation_p.G91E|KIAA1257_uc003eli.4_5'UTR	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	91										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TGCATATTTTCCCTTCTGACC	0.393000														17			11		0	0	1	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647607	79647607	+	RNA	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:79647607G>A	uc010jaj.1	-	0		c.179C>T								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		AAGTTGTCCTGGAAGTGCGCA	0.562000														44			34		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447283	226447283	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:226447283C>T	uc002voe.2	+	3	1325	c.1150C>T	c.(1150-1152)Ccg>Tcg	p.P384S	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P154S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	384	Pro-rich.																CTCCACGCTGCCGTCCCACGT	0.682000														7			5		0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36960648	36960648	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:36960648G>A	uc003aps.2	-	3	791	c.722C>T	c.(721-723)tCg>tTg	p.S241L		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	241					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CGTGGAGCGCGAGCTGGAGCG	0.697000														14			48		0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166600	180166600	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:180166600G>A	uc003mmf.1	-	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|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)			GAGAGTTCACGAAACCCGCAC	0.552000														20			15		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11556311	11556311	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:11556311C>T	uc002gne.3	+	13	2655	c.2587C>T	c.(2587-2589)Ctt>Ttt	p.L863F	DNAH9_uc010coo.3_Missense_Mutation_p.L157F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	863	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCCACGCCCTTGTTCAGGT	0.423000														44			25		0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823758	70823758	+	Missense_Mutation	SNP	G	A	A	rs140761910	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:70823758G>A	uc004eae.2	+	7	1132	c.631G>A	c.(631-633)Gat>Aat	p.D211N	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	211	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CAACAGTGATGATTCGGATGT	0.502000														248			172		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463542	26463542	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:26463542C>T	uc001mqt.4	+	1	269	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	ANO3_uc010rdr.2_Nonsense_Mutation_p.Q26*	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	42						chloride channel complex	chloride channel activity	p.A41S(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTGCCTCGCCCAGAGCTACGC	0.453000														81			70		0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95772168	95772168	+	Splice_Site	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:95772168C>T	uc002sub.3	-	6	890	c.672_splice	c.e6+1	p.E224_splice	MRPS5_uc002suc.3_Splice_Site|MRPS5_uc010yud.1_Splice_Site_p.E224_splice	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	224	S5 DRBM.				translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCATGCCTACCTCAAGTATCC	0.443000														61			23		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3682164	3682164	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:3682164G>A	uc002wja.3	-	5	1353	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	SIGLEC1_uc002wiz.4_Silent_p.I451I	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	451	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGGAGGCCAGGATATGACCCC	0.622000														27			19		0	0	1	0	0
PDZK1IP1	10158	broad.mit.edu	37	1	47650754	47650754	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:47650754C>T	uc001cqw.3	-	2	359	c.192G>A	c.(190-192)atG>atA	p.M64I		NM_005764	NP_005755	Q13113	PDZ1I_HUMAN	Homo sapiens PDZK1 interacting protein 1 (PDZK1IP1), mRNA.	64						integral to membrane				endometrium(1)|lung(1)|prostate(1)	3						CGGTCAGGATCATGTGTGCAG	0.597000														4			39		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444834	75444834	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:75444834G>A	uc001sxg.1	-	2	1495	c.951C>T	c.(949-951)atC>atT	p.I317I	KCNC2_uc009zry.3_Silent_p.I317I|KCNC2_uc001sxe.3_Silent_p.I317I|KCNC2_uc001sxf.3_Silent_p.I317I|KCNC2_uc010stw.1_Silent_p.I317I	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	317					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CAAAGTCAATGATATTCAAGA	0.403000														67			35		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31963519	31963519	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:31963519C>T	uc011doy.2	+	24	3229	c.3178C>T	c.(3178-3180)Cgg>Tgg	p.R1060W	C4B_uc011doz.2_Missense_Mutation_p.R1060W	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1060					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										CCAGCAGTTTCGGAAGGCGGA	0.612000														6			29		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166027021	166027021	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:166027021C>T	uc002ucx.3	-	3	794	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	SCN3A_uc002ucy.3_Missense_Mutation_p.R101Q|SCN3A_uc002ucz.3_Missense_Mutation_p.R101Q|SCN3A_uc002uda.1_5'Flank|SCN3A_uc002udb.1_5'Flank	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	101						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R101L(3)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GGCACTGAATCGGAAAATTGC	0.308000														25			16		0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157068549	157068549	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:157068549C>T	uc001fqq.2	-	2	720	c.435G>A	c.(433-435)ggG>ggA	p.G145G		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGCAGGGGCCCCCAGCAGCA	0.622000														9			100		0	0	1	0	0
NUP62CL	54830	broad.mit.edu	37	X	106410910	106410910	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:106410910C>T	uc004ena.3	-	3	422	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	NUP62CL_uc004enb.3_Non-coding_Transcript	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN	Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA.	55					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						ACAAGGTTTTCAAACCCTCTT	0.373000														102			73		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121448080	121448080	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:121448080G>A	uc001pxx.3	+	24	3680	c.3551G>A	c.(3550-3552)aGg>aAg	p.R1184K	SORL1_uc010rzp.1_Missense_Mutation_p.R30K	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1184	LDL-receptor class A 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)		AACGACTGCAGGGACTGGTCT	0.527000														17			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431307	179431307	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:179431307C>T	uc021vsy.1	-	274	72073	c.71848G>A	c.(71848-71850)Gag>Aag	p.E23950K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E17645K|TTN_uc021vta.1_Missense_Mutation_p.E17578K|TTN_uc021vtb.1_Missense_Mutation_p.E17453K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24877	Ig-like 120.						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)			CCCAAGATCTCACTGCCGCCA	0.433000														99			90		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15537558	15537558	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr21:15537558G>A	uc002yjm.3	-	5	960	c.950C>T	c.(949-951)tCa>tTa	p.S317L	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.S266L|LIPI_uc021whh.1_Missense_Mutation_p.S296L|LIPI_uc021whi.1_Missense_Mutation_p.S131L|LIPI_uc021whj.1_Missense_Mutation_p.S296L|LIPI_uc021whe.1_Missense_Mutation_p.S261L|LIPI_uc021whf.1_Missense_Mutation_p.S296L	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	296					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CCGAGGACATGATTTTTCCTT	0.313000														31			28		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51995067	51995067	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:51995067G>A	uc002pwx.1	-	7	1672	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	SIGLEC12_uc002pww.1_Missense_Mutation_p.S421F|SIGLEC12_uc010eoy.1_Missense_Mutation_p.S266F	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	539					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATCTGCCGGGGATTCAATCAG	0.612000														36			20		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132395326	132395326	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:132395326C>T	uc001uje.3	+	11	1197	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	310	Interaction with GABARAP and GABARAPL2.|Poly-Ser.				autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGCTCCACCTCCCACCTGGCC	0.697000														19			19		0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71175796	71175796	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:71175796C>T	uc001jpn.2	-	0	879	c.284G>A	c.(283-285)aGc>aAc	p.S95N		NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	95					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GATGTTGTGGCTGGCATAGAC	0.537000														28			19		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138453134	138453134	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:138453134C>T	uc003ihe.4	-	0	496	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	PCDH18_uc003ihf.4_Missense_Mutation_p.E30K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	37	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCCTCTGTTCCTCATAAATC	0.383000														75			5		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121613331	121613331	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:121613331C>T	uc003eep.2	+	0	161	c.8C>T	c.(7-9)cCt>cTt	p.P3L	SLC15A2_uc011bjn.1_Missense_Mutation_p.P3L	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	3					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.P3A(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GCCATGAATCCTTTCCAGAAA	0.493000														94			73		0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89647069	89647069	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:89647069G>A	uc001xxo.4	-	5	1030	c.893C>T	c.(892-894)cCc>cTc	p.P298L	FOXN3_uc001xxn.4_Missense_Mutation_p.P276L|FOXN3_uc010atk.3_Missense_Mutation_p.P276L	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	298					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCCCAATGGGAGTGATTGG	0.627000														2			6		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164685	139164685	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:139164685C>T	uc003yuy.3	-	12	2204	c.2033G>A	c.(2032-2034)aGa>aAa	p.R678K	FAM135B_uc003yux.3_Missense_Mutation_p.R579K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.R240K|FAM135B_uc003yvb.3_Missense_Mutation_p.R240K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	678										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)			GGATGAAGATCTCTTGATGAC	0.532000										HNSCC(54;0.14)				15			9		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6243355	6243355	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:6243355G>A	uc002kmz.4	-	6	558	c.398C>T	c.(397-399)tCc>tTc	p.S133F	L3MBTL4_uc002kmy.4_Missense_Mutation_p.S133F|L3MBTL4_uc010dkt.3_Missense_Mutation_p.S133F	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	133					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AATGTCAGGGGAACCAGCATT	0.393000														47			57		0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135690035	135690035	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:135690035C>T	uc004cbu.1	-	9	1525	c.969G>A	c.(967-969)aaG>aaA	p.K323K	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Silent_p.K119K	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	323	Adenylate kinase.					cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CTGCCATCTCCTTTTCAAAGA	0.522000														49			12		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48802825	48802825	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:48802825C>T	uc003xqi.3	-	32	4118	c.4061G>A	c.(4060-4062)gGa>gAa	p.G1354E	PRKDC_uc003xqj.3_Missense_Mutation_p.G1354E	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1355					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TACCTTCCATCCTTCCGGGGA	0.438000								Non-homologous end-joining						2			2		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958704	54958704	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:54958704C>T	uc003dhl.3	-	1	680	c.546G>A	c.(544-546)tgG>tgA	p.W182*	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	182	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AATTGCATTTCCAGAGGTTGT	0.468000														49			39		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560122	33560122	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:33560122C>T	uc001rll.1	-	2	976	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SYT10_uc009zju.1_Missense_Mutation_p.E37K	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	227						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)					TTGACATCTTCGTTTTGGTTG	0.383000														42			24		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767081	105767081	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:105767081G>A	uc004bbs.2	+	3	355	c.285G>A	c.(283-285)agG>agA	p.R95R		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	95	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TAGCTGCCAGGAGGCAGCCTC	0.383000														25			18		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845639	123845639	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:123845639G>A	uc001lfv.3	+	3	3984	c.3624G>A	c.(3622-3624)atG>atA	p.M1208I	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.M1208I|TACC2_uc010qtv.2_Missense_Mutation_p.M1208I	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1208						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.M1208I(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGCACCATGGATTTTTCTA	0.607000														49			36		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099056	169099056	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:169099056C>T	uc011bpj.1	-	1	697	c.294G>A	c.(292-294)agG>agA	p.R98R	MECOM_uc003ffl.2_Silent_p.R70R|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Silent_p.R98R|MECOM_uc011bpl.1_Silent_p.R98R	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	98							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTCGATCTTCCTTTTGGTCC	0.463000														58			35		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101125000	101125000	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:101125000C>T	uc004ays.3	-	12	2350	c.1890G>A	c.(1888-1890)atG>atA	p.M630I		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	630					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGCTTACCTCCATGCTGTACT	0.617000														14			9		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482118	37482118	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:37482118C>T	uc021ppc.1	+	26	2477	c.2378C>T	c.(2377-2379)cCc>cTc	p.P793L	ANKRD30A_uc001iza.1_Missense_Mutation_p.P793L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	849						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTAGGCTCCCTGCAGAATG	0.269000														53			35		0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	C	C	rs142470496	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						31			6		0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139745124	139745124	+	Silent	SNP	A	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:139745124A>T	uc003lfm.2	+	11	1778	c.1743A>T	c.(1741-1743)atA>atT	p.I581I	SLC4A9_uc003lfj.2_Silent_p.I557I|SLC4A9_uc011czg.1_Silent_p.I557I|SLC4A9_uc003lfl.2_Silent_p.I557I|SLC4A9_uc003lfk.2_Silent_p.I546I	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	581	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAATGGATAAGGACAAGGC	0.507000														11			4		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107493	55107493	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:55107493C>T	uc003dhf.3	+	35	3057	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I	CACNA2D3_uc003dhg.1_Silent_p.I909I|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1003						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)		TCCAGCAAATCCCAAGCAGCA	0.502000														32			17		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169850304	169850304	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:169850304C>T	uc002ueo.1	-	7	826	c.700G>A	c.(700-702)Gga>Aga	p.G234R		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	234	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGAAAAATCCCAACAGGAAA	0.433000														11			8		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72893278	72893278	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:72893278G>A	uc001sxa.3	+	6	1480	c.1450_splice	c.e6-1	p.E484_splice		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	484					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGTATTGCAGGAAAAGCAGAG	0.443000														47			20		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42460114	42460114	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr13:42460114G>A	uc001uyj.3	-	7	987	c.917C>T	c.(916-918)tCt>tTt	p.S306F	KIAA0564_uc001uyk.3_Missense_Mutation_p.S306F	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	306						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TCCAAGAGTAGAAGATTCTTG	0.328000														4			9		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55919318	55919318	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:55919318C>T	uc002adg.3	-	16	2863	c.2815G>A	c.(2815-2817)Gga>Aga	p.G939R		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	939					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGTAATATCCTGAATAAACT	0.343000														26			19		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13781044	13781044	+	Nonsense_Mutation	SNP	G	A	A	rs147688221	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:13781044G>A	uc003jfd.2	-	52	8887	c.8845C>T	c.(8845-8847)Cag>Tag	p.Q2949*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2949	AAA 4 (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)					GCATTTCCCTGAGGAGTACGA	0.428000									Kartagener syndrome					34			24		0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108634990	108634990	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:108634990G>A	uc003dxj.2	-	2	494	c.426C>T	c.(424-426)atC>atT	p.I142I	GUCA1C_uc003dxk.2_Silent_p.I142I	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	142	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	p.K141N(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TGTTTATATCGATCTTATGGA	0.418000														66			41		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35541202	35541202	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:35541202C>T	uc003xjr.2	+	4	1036	c.708C>T	c.(706-708)atC>atT	p.I236I	UNC5D_uc003xjs.2_Silent_p.I231I|UNC5D_uc003xjt.1_Silent_p.I5I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	236	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity	p.I231I(3)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGCCAACATCGTGGCTAAGA	0.532000														5			21		0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96521862	96521862	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:96521862T>A	uc002suz.1	-	30	2705	c.1228A>T	c.(1228-1230)Agg>Tgg	p.R410W						SubName: Full=Uncharacterized protein;									p.R634W(6)|p.R1383W(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AGCCTGAGCCTGGCAATTTCA	0.348000														34			3		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83344262	83344262	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:83344262G>A	uc001paj.2	-	13	1920	c.1617C>T	c.(1615-1617)ctC>ctT	p.L539L	DLG2_uc001pai.2_Silent_p.L436L|DLG2_uc010rsy.1_Silent_p.L506L|DLG2_uc021qof.1_Silent_p.L578L|DLG2_uc010rsz.1_Silent_p.L539L|DLG2_uc010rta.1_Silent_p.L539L|DLG2_uc001pak.2_Silent_p.L644L|DLG2_uc010rtb.1_Silent_p.L506L|DLG2_uc001pal.1_Silent_p.L539L|DLG2_uc010rsx.1_Silent_p.L20L|DLG2_uc010rsw.1_Silent_p.L21L	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	539	SH3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ACCTGACGTAGAGGGAGCGTT	0.483000														105			17		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36241532	36241532	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr13:36241532C>T	uc021rid.1	+	55	8957	c.8423C>T	c.(8422-8424)aCc>aTc	p.T2808I	NBEA_uc021ric.1_Missense_Mutation_p.T2805I|NBEA_uc010abi.3_Missense_Mutation_p.T1466I|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.T601I|NBEA_uc001uvd.3_Missense_Mutation_p.T386I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2808						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTGTCCACACCATCACTGGA	0.502000														14			36		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447961	96447961	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:96447961G>A	uc001kjv.4	+	2	737	c.411G>A	c.(409-411)ggG>ggA	p.G137G	CYP2C19_uc001kjw.4_Silent_p.G137G|CYP2C19_uc009xus.1_Silent_p.G2G|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.	137					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)	TTGGGATGGGGAAGAGGAGCA	0.473000														36			37		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915624	72915624	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:72915624C>T	uc002jme.1	-	1	1490	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	USH1G_uc010wro.1_Missense_Mutation_p.R333Q	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	436	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GATCTTCTTTCGGGGCCCCAG	0.682000														23			20		0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56448328	56448328	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:56448328C>T	uc002iwf.3	-	1	2275	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	RNF43_uc010wnv.2_Intron|RNF43_uc002iwh.4_Missense_Mutation_p.V107I|RNF43_uc002iwg.4_Missense_Mutation_p.V107I|RNF43_uc010dcw.3_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	107						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAGCTTGACGATGCTGATG	0.597000														56			4		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34649668	34649668	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:34649668G>A	uc010ucc.2	+	7	3841	c.3459G>A	c.(3457-3459)agG>agA	p.R1153R	C15orf55_uc010ucd.2_Silent_p.R1143R|C15orf55_uc001zif.3_Silent_p.R1125R	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	1125						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CGGGCAGAAGGAAGAAACGAC	0.587000			T	"""BRD3, BRD4"""	lethal midline carcinoma									78			47		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56496733	56496733	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:56496733G>A	uc003pcy.4	-	14	2408	c.2300C>T	c.(2299-2301)cCc>cTc	p.P767L	DST_uc021zay.1_Missense_Mutation_p.P1133L|DST_uc021zax.1_Missense_Mutation_p.P767L|DST_uc003pdc.4_Missense_Mutation_p.P767L|DST_uc003pdd.4_Missense_Mutation_p.P767L	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	1093					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTTCCAGGGGAGTTCGAAT	0.388000														32			36		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57192176	57192176	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:57192176G>A	uc001cym.4	-	15	2280	c.1874C>T	c.(1873-1875)tCa>tTa	p.S625L	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	625										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCACCTTTCTGATTCTTCAGC	0.368000														8			57		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121384980	121384980	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:121384980G>A	uc001pxx.3	+	7	1290	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	387					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)		TGTCCTTGGAGAACGTGCTCT	0.542000														5			13		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515396	51515396	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:51515396G>A	uc010ric.2	+	0	115	c.115G>A	c.(115-117)Gga>Aga	p.G39R		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	39					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						CACTGTGGTGGGATATGTGCT	0.443000														108			79		0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674572	71674572	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:71674572G>A	uc002fau.3	+	2	938	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	295	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCCAAGAGTCGAACAATGTTG	0.587000														7			20		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153137687	153137687	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:153137687C>T	uc004fjb.3	-	3	428	c.320G>A	c.(319-321)aGg>aAg	p.R107K	L1CAM_uc004fjc.3_Missense_Mutation_p.R107K|L1CAM_uc010nuo.3_Missense_Mutation_p.R102K|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc022chz.1_Missense_Mutation_p.R102K	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	107	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTGGAACCTCTGAGCAAA	0.602000														39			32		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73725444	73725444	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:73725444G>A	uc002jpg.3	+	6	852	c.665G>A	c.(664-666)gGa>gAa	p.G222E	ITGB4_uc002jph.3_Missense_Mutation_p.G222E|ITGB4_uc010dgo.3_Missense_Mutation_p.G222E|ITGB4_uc002jpi.4_Missense_Mutation_p.G222E|ITGB4_uc010dgp.1_Missense_Mutation_p.G222E|ITGB4_uc002jpj.3_Missense_Mutation_p.G222E|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	222	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAACTGCAGGGAGAGCGGATC	0.597000														35			21		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432293	135432293	+	Missense_Mutation	SNP	G	A	A	rs150281542		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:135432293G>A	uc004ezu.1	+	5	6719	c.6428G>A	c.(6427-6429)gGt>gAt	p.G2143D	GPR112_uc010nsb.1_Missense_Mutation_p.G1938D|GPR112_uc010nsc.1_Missense_Mutation_p.G1910D	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2143					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V2142G(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTATCTGTTGGTGCCATGCCT	0.453000														47			37		0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106797452	106797452	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:106797452C>T	uc003vdx.3	+	8	1117	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	314					G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						ATTCTTTTTTCATTGTAGAAT	0.348000														60			45		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529653	5529653	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:5529653C>T	uc021qcw.1	-	0	1136	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.R379K	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	379										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGGAACTCTGTTTACTGA	0.572000														76			49		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38833586	38833586	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:38833586G>A	uc003ciq.3	-	1	344	c.344C>T	c.(343-345)cCt>cTt	p.P115L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	115					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGGTTGAAAGGACTGAATAG	0.463000														120			89		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42641897	42641897	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:42641897C>T	uc011dur.2	+	37	4515	c.4217C>T	c.(4216-4218)cCa>cTa	p.P1406L	UBR2_uc011dus.2_Missense_Mutation_p.P1051L|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_5'UTR	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1406					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGGAACTTCCATGCATATTA	0.348000														14			113		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695113	247695113	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:247695113C>T	uc021pmb.1	-	0	701	c.701G>A	c.(700-702)gGg>gAg	p.G234E	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.G234E	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTTTCTCCGCCCTTCTGCTGA	0.552000														11			115		0	0	1	0	0
C2orf63	130162	broad.mit.edu	37	2	55436561	55436561	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:55436561G>A	uc002ryi.2	-	6	1139	c.793C>T	c.(793-795)Cag>Tag	p.Q265*	C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Nonsense_Mutation_p.Q143*	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	265							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			TTGGTTTTCTGAATTTGCTCC	0.323000														43			61		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137858	56137858	+	Silent	SNP	G	A	A	rs147708648		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:56137858G>A	uc002xyn.4	+	3	676	c.513G>A	c.(511-513)cgG>cgA	p.R171R	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	171					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAGCATGCGGATCATGACGC	0.592000														27			18		0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198570721	198570721	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:198570721G>A	uc002uuq.3	+	0	694	c.592G>A	c.(592-594)Gag>Aag	p.E198K	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	198					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.L197L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGTATCTCTCGAGAGCGGGCA	0.587000														38			37		0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40704187	40704187	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:40704187G>A	uc010mmj.3	+	3	1873	c.1844G>A	c.(1843-1845)gGa>gAa	p.G615E		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	615						integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGCAACCTGGGAAGGATCCAA	0.527000														6			40		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107155	14107155	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:14107155C>T	uc001avi.3	+	7	3721	c.2865C>T	c.(2863-2865)tcC>tcT	p.S955S	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.S955S|PRDM2_uc021ogk.1_Silent_p.S718S|PRDM2_uc001avk.3_Silent_p.S754S|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	955	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGACACCCTCCCTTTCATCCG	0.607000														31			104		0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108911460	108911460	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:108911460G>A	uc004eoi.2	-	11	1813	c.1308C>T	c.(1306-1308)gtC>gtT	p.V436V	ACSL4_uc004eoj.2_Silent_p.V395V|ACSL4_uc004eok.2_Silent_p.V395V|ACSL4_uc010npp.1_Silent_p.V436V	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	436					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GCATCATGCGGACATTCCCTC	0.473000														47			44		0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105526370	105526370	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:105526370G>A	uc003pqv.1	+	3	668	c.465G>A	c.(463-465)caG>caA	p.Q155Q	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	155					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATTACTGTCAGAGCATCATGC	0.478000														41			37		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440704	179440704	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:179440704C>T	uc021vsy.1	-	274	62676	c.62451G>A	c.(62449-62451)ctG>ctA	p.L20817L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L14512L|TTN_uc021vta.1_Silent_p.L14445L|TTN_uc021vtb.1_Silent_p.L14320L|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21744	Fibronectin type-III 51.						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)			CTCGGTTTTTCAGGTTGATGT	0.383000														83			53		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067908	9067908	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:9067908G>A	uc002mkp.3	-	2	19742	c.19538C>T	c.(19537-19539)tCc>tTc	p.S6513F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6515	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						AGACAGAAGGGAAGAGGAAGA	0.473000														25			16		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982172	7982172	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:7982172C>T	uc001mfv.1	-	1	1004	c.987G>A	c.(985-987)acG>acA	p.T329T		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	329	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTCTCATCCGTGAAATAGG	0.502000														70			44		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111766770	111766770	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:111766770C>T	uc010hqb.2	+	4	707	c.537C>T	c.(535-537)acC>acT	p.T179T	TMPRSS7_uc011bhr.1_Silent_p.T34T	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	305					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACTCCCTGACCATTTACGACT	0.473000														36			31		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363626	56363626	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:56363626C>T	uc002qmd.4	+	1	602	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	60	DAPIN.						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)		ACCTCTTGATCAAGCACTATG	0.418000														39			27		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043449	20043449	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:20043449C>T	uc002dgu.1	-	1	832	c.670G>A	c.(670-672)Ggg>Agg	p.G224R	GPR139_uc010vaw.1_Missense_Mutation_p.G131R	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	224						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGGTCTTCCCCGTGGAGTAG	0.522000														80			36		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908899	24908899	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:24908899G>A	uc001isb.2	-	8	2412	c.1925C>T	c.(1924-1926)tCa>tTa	p.S642L	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.S642L|ARHGAP21_uc010qdc.1_Missense_Mutation_p.S477L|ARHGAP21_uc001isc.1_Missense_Mutation_p.S632L	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	641					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGAAACAAATGATTTCTGGCT	0.443000														60			51		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	161931	161931	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:161931G>A	uc003jak.2	+	9	1503	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	485					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCTGGCGAAGGAGAACCCGCA	0.587000														31			20		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887462	25887462	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:25887462G>A	uc001isj.3	+	10	2967	c.2907G>A	c.(2905-2907)aaG>aaA	p.K969K	GPR158_uc001isk.3_Silent_p.K344K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	969						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.K969K(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGCCAAGAAAGCCTCAGAAAT	0.453000														91			54		0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990639	990639	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:990639C>T	uc003zgw.1	+	1	1091	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	351					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ACGTTGTCCCCAGTCCCTTGG	0.587000														9			22		0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1271968	1271968	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:1271968C>T	uc002ckw.2	-	5	788	c.786G>A	c.(784-786)gtG>gtA	p.V262V		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	262	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GGATCCAGTTCACGTAGGCAG	0.667000														14			10		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28991308	28991308	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:28991308G>A	uc002kwr.2	+	13	2444	c.2309G>A	c.(2308-2310)gGa>gAa	p.G770E	DSG4_uc002kwq.2_Missense_Mutation_p.G751E	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	751					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ggggccgcaggagcctcaggg	0.622000														46			29		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24593722	24593722	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:24593722G>A	uc003jgr.2	-	2	384	c.-122_splice	c.e2-1		CDH10_uc011cnu.2_Splice_Site	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTTTCCCAAAGCTTcaaacaa	0.289000										HNSCC(23;0.051)				7			3		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230290	21230290	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:21230290G>A	uc002red.3	-	25	9578	c.9450C>T	c.(9448-9450)ttC>ttT	p.F3150F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3150					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCATAGAGAGAAATCTTTCA	0.343000														126			54		0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														10			3		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184299156	184299156	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:184299156G>A	uc003foz.3	+	14	3285	c.2848G>A	c.(2848-2850)Ggg>Agg	p.G950R		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	950	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CGTCAGTGCGGGGTTTGCATC	0.587000														41			24		0	0	1	0	0
CRYGD	1421	broad.mit.edu	37	2	209025650	209025650	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:209025650C>T	uc002vcq.4	-	2	420	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	135	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TTGGGCATTTCATAGAGGACC	0.572000														59			38		0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1275124	1275124	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:1275124G>A	uc001aer.4	-	8	1025	c.978C>T	c.(976-978)tcC>tcT	p.S326S	DVL1_uc009vka.3_5'UTR|DVL1_uc002quu.3_Silent_p.S43S|DVL1_uc001aeu.1_Missense_Mutation_p.P13L	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	326					Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCCCGTCTGGGAAACGATCT	0.647000														2			34		0	0	1	0	0
P2RX5	5026	broad.mit.edu	37	17	3594962	3594962	+	Silent	SNP	G	A	A	rs145941131		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:3594962G>A	uc002fwi.3	-	1	663	c.264C>T	c.(262-264)gtC>gtT	p.V88V	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Silent_p.V52V|P2RX5_uc002fwk.3_Silent_p.V88V|P2RX5_uc002fwj.3_Silent_p.V88V|P2RX5_uc002fwl.3_Silent_p.V88V|P2RX5_uc002fwm.2_Silent_p.V88V	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	88					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CGTAGTCGGCGACATCCCAGA	0.612000														11			29		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159169599	159169599	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:159169599G>A	uc001ftl.2	+	7	1190	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	CADM3_uc001ftk.2_Silent_p.V371V|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	337					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTGGGATCGTGGCTTTCATTG	0.552000														9			75		0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39775896	39775896	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:39775896C>T	uc002hxh.2	-	7	1370	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	417	Tail.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				ACCTTGCCATCCTGGACCTCT	0.662000														50			44		0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155004369	155004369	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:155004369C>T	uc022cio.1	+	0	836	c.836C>T	c.(835-837)cCc>cTc	p.P279L	SPRY3_uc004fnq.1_Missense_Mutation_p.P279L	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	279					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGTAGTGCACCCTTCCCCAAG	0.542000														62			51		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74477518	74477518	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:74477518C>T	uc003hhd.1	-	1	214	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	31					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GTCATCTTTTCCTCCTTTTTG	0.333000														55			9		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51865128	51865128	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:51865128C>T	uc001rys.1	+	13	1894	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	SLC4A8_uc010sni.2_Silent_p.F519F|SLC4A8_uc001rym.3_Silent_p.F519F|SLC4A8_uc001ryn.3_Silent_p.F519F|SLC4A8_uc001ryo.2_Silent_p.F519F|SLC4A8_uc010snj.2_Silent_p.F599F|SLC4A8_uc001ryq.4_Silent_p.F572F|SLC4A8_uc001ryr.3_Silent_p.F572F|SLC4A8_uc010snk.2_Silent_p.F519F	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	572					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGACCGCTTTCCTGTGTATTG	0.458000														83			62		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433624	43433624	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:43433624G>A	uc002ovl.4	-	3	778	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.R105C	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	227	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.527000														299			202		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173248	161173248	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:161173248G>A	uc003qtm.4	+	17	2339	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	743	Peptidase S1.				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)	CCAATCCACCGAACTCTGTGC	0.488000														42			35		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153744415	153744415	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:153744415A>T	uc009wom.3	+	26	2917	c.2696A>T	c.(2695-2697)aAc>aTc	p.N899I	INTS3_uc001fct.3_Missense_Mutation_p.N899I|INTS3_uc001fcu.3_Missense_Mutation_p.N591I|INTS3_uc001fcv.3_Missense_Mutation_p.N693I|INTS3_uc010peb.2_Missense_Mutation_p.N693I|INTS3_uc001fcw.3_Missense_Mutation_p.N412I|INTS3_uc010pec.2_Missense_Mutation_p.N412I|INTS3_uc001fcx.3_Missense_Mutation_p.N196I|INTS3_uc001fcy.3_Missense_Mutation_p.N196I	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	900					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATCAAGAACAACAGCCTGCCT	0.597000											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			54		0	0	1	0	0
LOC286059	286059	broad.mit.edu	37	8	22938498	22938498	+	Splice_Site	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:22938498G>A	uc003xcw.1	+	2		c.193_splice	c.e2-1							Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain pseudogene (LOC286059), non-coding RNA.																		TGTGTTACAGGAACAGGCAAA	0.537000														5			15		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2125865	2125865	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:2125865A>C	uc002con.3	+	22	2717	c.2611A>C	c.(2611-2613)Atc>Ctc	p.I871L	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.I871L|TSC2_uc002coo.3_Missense_Mutation_p.I871L|TSC2_uc010uvv.2_Missense_Mutation_p.I834L|TSC2_uc010uvw.2_Missense_Mutation_p.I822L|TSC2_uc002cop.3_Missense_Mutation_p.I671L	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	871					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGTGTTCGCCATCTCCCTGCC	0.677000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					37			20		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2764351	2764351	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:2764351C>T	uc009zdu.1	+	35	4636	c.4323C>T	c.(4321-4323)atC>atT	p.I1441I	CACNA1C_uc001qkc.2_Silent_p.I1393I|CACNA1C_uc001qjz.2_Silent_p.I1393I|CACNA1C_uc001qkd.2_Silent_p.I1393I|CACNA1C_uc001qke.2_Silent_p.I1382I|CACNA1C_uc001qkf.2_Silent_p.I1382I|CACNA1C_uc009zdw.1_Silent_p.I1415I|CACNA1C_uc001qkg.2_Silent_p.I1380I|CACNA1C_uc001qkh.2_Silent_p.I1382I|CACNA1C_uc001qkl.2_Silent_p.I1441I|CACNA1C_uc001qkj.2_Silent_p.I1393I|CACNA1C_uc001qkk.2_Silent_p.I1393I|CACNA1C_uc001qkn.2_Silent_p.I1393I|CACNA1C_uc001qkm.2_Silent_p.I1382I|CACNA1C_uc001qko.2_Silent_p.I1413I|CACNA1C_uc001qkp.2_Silent_p.I1393I|CACNA1C_uc001qkq.2_Silent_p.I1421I|CACNA1C_uc001qku.2_Silent_p.I1393I|CACNA1C_uc001qkr.2_Silent_p.I1410I|CACNA1C_uc001qks.2_Silent_p.I1393I|CACNA1C_uc001qkt.2_Silent_p.I1393I|CACNA1C_uc009zdv.1_Silent_p.I1390I|CACNA1C_uc001qkb.2_Silent_p.I1393I|CACNA1C_uc001qki.1_Silent_p.I1129I|CACNA1C_uc010sea.1_Silent_p.I84I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1441					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)	CCACAGAGATCAACCGGAACA	0.502000														14			13		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468104	10468104	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:10468104C>T	uc003wtc.3	-	3	3733	c.3504G>A	c.(3502-3504)ctG>ctA	p.L1168L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1168					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)		GGCCTGAGTCCAGCTGGTCTT	0.602000														6			21		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119916966	119916966	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:119916966C>T	uc001txe.3	+	3	874	c.409C>T	c.(409-411)Cac>Tac	p.H137Y	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	137										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CACTCCCATCCACAGCTGCAT	0.473000														23			17		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806258	26806258	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:26806258G>A	uc001zbb.3	-	8	1172	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	GABRB3_uc021sgg.1_Missense_Mutation_p.P230S|GABRB3_uc021sgh.1_Missense_Mutation_p.P216S|GABRB3_uc001zaz.3_Missense_Mutation_p.P301S|GABRB3_uc001zba.3_Missense_Mutation_p.P301S	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	301					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTGACATAGGGGATTTTGGGC	0.463000														60			29		0	0	1	0	0
CCDC59	29080	broad.mit.edu	37	12	82752021	82752021	+	Silent	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:82752021G>A	uc001szp.4	-	0	179	c.135C>T	c.(133-135)ttC>ttT	p.F45F	C12orf26_uc001szq.3_5'Flank|CCDC59_uc021rbm.1_Intron	NM_014167	NP_054886	Q9P031	TAP26_HUMAN	Homo sapiens coiled-coil domain containing 59 (CCDC59), transcript variant 1, mRNA.	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CGCTCCCCACGAAGGCTTGCG	0.512000											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			15		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212568865	212568865	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:212568865G>A	uc002veg.1	-	10	1351	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	ERBB4_uc002veh.1_Missense_Mutation_p.S418F|ERBB4_uc010zji.1_Missense_Mutation_p.S418F|ERBB4_uc010zjj.1_Missense_Mutation_p.S418F|ERBB4_uc010fut.1_Missense_Mutation_p.S418F	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.	418					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)		CACCAGGTTAGAAAAAACACT	0.388000										TSP Lung(8;0.080)				40			38		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294904	5294904	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:5294904C>T	uc010zqw.2	-	0	120	c.112G>A	c.(112-114)Gat>Aat	p.D38N	PROKR2_uc010zqx.2_Missense_Mutation_p.D38N|PROKR2_uc010zqy.2_Missense_Mutation_p.D38N|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	38						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.D38N(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCATCCTCATCCATAGGGAGG	0.507000										HNSCC(71;0.22)				46			43		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114486106	114486106	+	Silent	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:114486106C>T	uc004bfr.3	-	11	1863	c.1728G>A	c.(1726-1728)agG>agA	p.R576R	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.R537R|C9orf84_uc010mug.3_Silent_p.R522R	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	576										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TATCTGTTCCCCTTTCCTGAT	0.328000														18			10		0	0	1	0	0
TBC1D29	26083	broad.mit.edu	37	17	28890411	28890411	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:28890411C>T	uc002hfh.3	+	4	1112	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	TBC1D29_uc002hfi.3_Non-coding_Transcript	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	Homo sapiens TBC1 domain family, member 29 (TBC1D29), mRNA.	141						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				TCTACCAtctcggagagggag	0.488000														23			14		0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117169022	117169022	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:117169022A>G	uc004biy.4	-	8	1340	c.700T>C	c.(700-702)Tcg>Ccg	p.S234P	DFNB31_uc004bix.3_Missense_Mutation_p.S266P|DFNB31_uc004biz.4_Missense_Mutation_p.S617P|DFNB31_uc004bja.4_Missense_Mutation_p.S617P	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	617					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAGTGCCCGAGCAGGAAGGC	0.667000														26			11		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34102044	34102044	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:34102044C>T	uc001bxm.1	-	29	5062	c.4885G>A	c.(4885-4887)Gaa>Aaa	p.E1629K	CSMD2_uc001bxn.1_Missense_Mutation_p.E1589K|CSMD2_uc001bxo.1_Missense_Mutation_p.E502K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1589	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCTCAACTTCGTAGCCCCCG	0.622000														7			28		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350186	100350186	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:100350186G>A	uc003uwj.3	+	13	2623	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	ZAN_uc003uwk.3_Missense_Mutation_p.E820K|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.	820	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)			CATCCCCATGGAAAAACCCAC	0.517000														69			51		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058260	9058260	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:9058260G>A	uc002mkp.3	-	2	29390	c.29186C>T	c.(29185-29187)tCt>tTt	p.S9729F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9731	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						TGATGTCAGAGAAGAGGAAGA	0.488000														25			19		0	0	1	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478946	141478946	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:141478946C>T	uc003vwq.1	+	0	658	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	220					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TTTCTGGAATCCCCAGACGGA	0.443000														62			56		0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31327180	31327180	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:31327180G>A	uc001msv.3	-	5	974	c.736C>T	c.(736-738)Cca>Tca	p.P246S	DCDC5_uc001msu.2_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	246	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTTTGAATGGATTTAAAAAG	0.393000														59			33		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4217291	4217291	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:4217291C>T	uc010dtt.1	+	17	2410	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	ANKRD24_uc002lzs.2_Missense_Mutation_p.P683S|ANKRD24_uc002lzt.2_Missense_Mutation_p.P684S	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	712										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CATCCTACATCCTGGTGCCGC	0.647000														6			4		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070044	57070045	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:57070044_57070045GG>AA	uc001njr.3	-	5	4883_4884	c.4571_4572CC>TT	c.(4570-4572)acc>aTT	p.T1524I	TNKS1BP1_uc001njq.3_Missense_Mutation_p.T96I|TNKS1BP1_uc001njs.3_Missense_Mutation_p.T1524I	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1524	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AAGAGCCCCAGGTGCCATCCAC	0.658000														12			16		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833228	24833228	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:24833228G>A	uc001iru.4	+	18	5432	c.5029G>A	c.(5029-5031)Gaa>Aaa	p.E1677K	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.E1360K|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.E513K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1677					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAAACAGCTCGAAAATACAAT	0.433000														60			30		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48420972	48420972	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:48420972G>A	uc003csr.3	+	6	884	c.698G>A	c.(697-699)gGt>gAt	p.G233D	FBXW12_uc010hjv.3_Missense_Mutation_p.G214D|FBXW12_uc003css.3_Missense_Mutation_p.G163D|FBXW12_uc010hjw.3_Missense_Mutation_p.G132D|Metazoa_SRP_uc021wxm.1_5'Flank	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	233										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTCAATATGGTATTGTACTT	0.438000														107			98		0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105526626	105526626	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:105526626G>C	uc003pqv.1	+	3	924	c.721G>C	c.(721-723)Ggg>Cgg	p.G241R	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	241					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AAGCAAAAAGGGGCCTTCAGT	0.463000														33			18		0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31897646	31897648	+	In_Frame_Del	DEL	CTT	-	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:31897646_31897648delCTT	uc021okm.1	+	3	618_620	c.345_347delCTT	c.(343-348)gccttc>gcc	p.F120del	SERINC2_uc010ogg.2_In_Frame_Del_p.F115del|SERINC2_uc009vtw.1_In_Frame_Del_p.F111del|SERINC2_uc001bst.3_In_Frame_Del_p.F111del|SERINC2_uc001bsu.3_In_Frame_Del_p.F56del|SERINC2_uc010ogh.2_In_Frame_Del_p.F115del	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	111						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CCACGGCGGCCTTCTTCTTCTTT	0.660													---	7	---	---	8	---					
USP1	7398	broad.mit.edu	37	1	62916296	62916298	+	In_Frame_Del	DEL	CTT	-	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:62916296_62916298delCTT	uc001daj.2	+	8	2330_2332	c.2002_2004delCTT	c.(2002-2004)cttdel	p.L669del	USP1_uc001dak.2_In_Frame_Del_p.L669del|USP1_uc001dal.2_In_Frame_Del_p.L669del	NM_001017415	NP_003359	O94782	UBP1_HUMAN	Homo sapiens ubiquitin specific peptidase 1 (USP1), transcript variant 2, mRNA.	669					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGCTATTGGACTTCTTGGAGGAC	0.355													---	14	---	---	81	---					
PLG	5340	broad.mit.edu	37	6	161139418	161139419	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:161139418_161139419delCA	uc003qtm.4	+	7	992_993	c.880_881delCA	c.(880-882)cacfs	p.H294fs		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	294	Kringle 3.				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)	CGTGTCCGGGCACACCTGTCAG	0.540													---	67	---	---	40	---					
BHLHA15	168620	broad.mit.edu	37	7	97842113	97842113	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:97842113delG	uc003upe.1	+	1	579	c.492delG	c.(490-492)ttgfs	p.L164fs	BHLHA15_uc003upf.1_Frame_Shift_Del_p.L164fs|BHLHA15_uc022ahw.1_Frame_Shift_Del_p.L164fs	NM_177455	NP_803238	Q7RTS1	BHA15_HUMAN	Homo sapiens basic helix-loop-helix family, member a15 (BHLHA15), mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										GGGGTGCGTTGGGGGCCACGG	0.701													---	4	---	---	2	---					
AHCYL2	23382	broad.mit.edu	37	7	128865042	128865042	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:128865042delC	uc011kov.2	+	0	188	c.125delC	c.(124-126)gccfs	p.A42fs	AHCYL2_uc003vot.3_Frame_Shift_Del_p.A42fs	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	42					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGCGCCATGGCCCCCCCGGCG	0.786													---	4	---	---	2	---					
GSTO1	9446	broad.mit.edu	37	10	106019544	106019546	+	In_Frame_Del	DEL	GTT	-	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:106019544_106019546delGTT	uc001kya.3	+	2	573_575	c.354_356delGTT	c.(352-357)gagttg>gag	p.L119del	GSTO1_uc021pxr.1_In_Frame_Del_p.L91del|GSTO1_uc021pxs.1_In_Frame_Del_p.L119del	NM_004832	NP_001177932	P78417	GSTO1_HUMAN	Homo sapiens glutathione S-transferase omega 1 (GSTO1), transcript variant 1, mRNA.	119	GST C-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	TGATCTTAGAGTTGTTTTCTAAG	0.424													---	72	---	---	27	---					
CTSZ	1522	broad.mit.edu	37	20	57570805	57570806	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:57570805_57570806delCT	uc002yai.2	-	5	936_937	c.810_811delAG	c.(808-813)agaggcfs	p.R270fs		NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	Homo sapiens cathepsin Z (CTSZ), mRNA.	270					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			CTCAGCCAGCCTCTCTCGCCCT	0.619													---	54	---	---	26	---