Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MRPS9	64965	broad.mit.edu	37	2	105706377	105706377	+	Splice_Site	SNP	G	G	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:105706377G>C	uc002tcn.4	+	7	644	c.576_splice	c.e7-1	p.R192_splice		NM_182640	NP_872578	P82933	RT09_HUMAN	Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA.	192					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	p.?(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TATTTTAACAGAGACGTGATT	0.303000													17	56					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134501446	134501446	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:134501446G>C	uc022bos.1	-	9	1727	c.1568C>G	c.(1567-1569)gCg>gGg	p.A523G	RAPGEF1_uc022bot.1_Missense_Mutation_p.A505G|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Missense_Mutation_p.A510G|RAPGEF1_uc022bov.1_Missense_Mutation_p.A510G	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	505					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity	p.A523G(2)|p.A200G(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGCAAAGGGCGCGTAGGGGAC	0.582000													17	92					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8096026	8096026	+	RNA	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr8:8096026T>G	uc011kwt.2	+	7		c.1221T>G			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Intron			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						TGACCCCTGATGCATAGCCCT	0.667000													4	4					0	0	1	0	0
SSX8	280659	broad.mit.edu	37	X	52662529	52662529	+	RNA	SNP	A	A	G	rs150583046	by1000genomes	TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chrX:52662529A>G	uc011mob.1	+	7		c.978A>G								Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TGTTCACAACAGTGAAAAGTT	0.438000													3	31					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182087	57182087	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:57182087C>A	uc010rjr.2	-	11	1441	c.1099_splice	c.e11+1	p.G367_splice	SLC43A3_uc001nke.3_Splice_Site_p.G253_splice|SLC43A3_uc001nkg.3_Splice_Site_p.G354_splice|SLC43A3_uc001nkh.3_Splice_Site_p.G354_splice|SLC43A3_uc009yme.3_Splice_Site_p.G354_splice|SLC43A3_uc001nki.3_Splice_Site_p.G354_splice	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	354					transmembrane transport	integral to membrane		p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCGCATCTCACCTGTCTTTCT	0.512000													19	253					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49443872	49443872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:49443872C>A	uc001rta.4	-	10	3499	c.3499G>T	c.(3499-3501)Gag>Tag	p.E1167*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1167	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.E1167*(1)|p.E894*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGTAGACCTCCATAGGGGTC	0.617000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			28	148					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172635069	172635069	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:172635069T>G	uc001gis.3	+	3	916	c.759T>G	c.(757-759)agT>agG	p.S253R	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	253					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	p.S253R(2)|p.T252N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						ATCTTACCAGTGCTGATCATT	0.473000													37	208					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979678	58979678	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:58979678G>A	uc001nnu.4	-	0	817	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	221	MACPF.					integral to membrane		p.L221F(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAGGCCCTGAGGTGGTCCTCC	0.572000													12	98					0	0	1	0	0
LOC285501	285501	broad.mit.edu	37	4	178897079	178897079	+	RNA	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:178897079T>A	uc010iru.3	+	4		c.744T>A								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.									p.Y94*(2)					all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		CTCTGAAGTATATTTTTTCTA	0.378000													13	303					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46063159	46063159	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:46063159C>G	uc003cpe.3	-	2	505	c.281G>C	c.(280-282)gGc>gCc	p.G94A	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.G94A|XCR1_uc021wwx.1_Missense_Mutation_p.G94A	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	94					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity	p.G94A(2)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAGCACCCAGCCCCAGTGGTA	0.547000													10	60					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116519322	116519322	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:116519322C>A	uc001egb.4	+	0	204	c.74C>A	c.(73-75)gCc>gAc	p.A25D	SLC22A15_uc001ega.2_Missense_Mutation_p.A25D	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	25					ion transport	integral to membrane	transmembrane transporter activity	p.A25D(3)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTCCTGCTGGCCGTGCTGCTG	0.716000													3	36					0	0	1	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126633	37126633	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:37126633A>G	uc003zzq.3	+	1	477	c.304A>G	c.(304-306)Aga>Gga	p.R102G	ZCCHC7_uc011lqh.2_Intron|ZCCHC7_uc022bgu.1_Missense_Mutation_p.R102G|ZCCHC7_uc010mlt.3_Missense_Mutation_p.R101G|ZCCHC7_uc003zzs.1_Missense_Mutation_p.R101G	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA.	102							nucleic acid binding|zinc ion binding	p.R102G(2)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CAGTATTTATAGATGTAAAGG	0.393000													13	448					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48176998	48176998	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:48176998C>A	uc002phh.4	+	3	257	c.63C>A	c.(61-63)gaC>gaA	p.D21E		NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	21							protein binding	p.D21E(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCTCAATGACTTCTTGCATG	0.592000													28	132					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432054	117432054	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:117432054G>A	uc003vjf.3	-	3	1288	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	399	Pro-rich.							p.P399L(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGGAAGTGGGGGTGTGCTACT	0.527000													92	272					0	0	1	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39565994	39565994	+	RNA	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:39565994T>G	uc021txj.1	+	1		c.1415T>G								Homo sapiens uncharacterized LOC100505782 (LOC100505782), non-coding RNA.																		GGGGTCTGGGTCAATGACATC	0.498000													2	6					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798036	148798036	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chrX:148798036T>A	uc004fdq.3	+	4	1045	c.890T>A	c.(889-891)cTc>cAc	p.L297H	MAGEA11_uc004fdr.3_Missense_Mutation_p.L268H	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	297	MAGE.					cytoplasm|nucleus	protein binding	p.L297H(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCCTCAACCTCTCTTATGAT	0.498000													56	78					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046745	73046745	+	RNA	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chrX:73046745C>T	uc004ebn.2	+	0		c.34706C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CTTAAGACTTCTAACTCAAGC	0.502000													46	68					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79041206	79041206	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:79041206G>A	uc003kgc.3	+	3	10968	c.10896G>A	c.(10894-10896)atG>atA	p.M3632I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3632	Amphipathic helix H2.|B-box coiled-coil; BBC.					perinuclear region of cytoplasm		p.M3632I(3)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGCAGAGCATGGACACTGCCA	0.488000													19	104					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77302633	77302633	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr14:77302633A>T	uc001xsx.2	+	3	588	c.474A>T	c.(472-474)caA>caT	p.Q158H	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	158								p.Q158H(2)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGATGCTACAAGAGAACTACT	0.552000													8	20					0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24621251	24621251	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:24621251C>T	uc002zzp.4	-	9	1885	c.1468G>A	c.(1468-1470)Ggg>Agg	p.G490R	GGT5_uc002zzo.4_Missense_Mutation_p.G489R|GGT5_uc002zzr.4_Missense_Mutation_p.G457R|GGT5_uc002zzq.4_Missense_Mutation_p.G457R|GGT5_uc011ajm.2_Missense_Mutation_p.G413R	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	489					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.G489R(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCGCCAGCCCCGCCAATCACT	0.622000													26	92					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046744	73046744	+	RNA	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chrX:73046744T>C	uc004ebn.2	+	0		c.34705T>C			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TCTTAAGACTTCTAACTCAAG	0.502000													43	70					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78449346	78449346	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:78449346G>T	uc002jyp.1	-	1	775	c.617C>A	c.(616-618)aCc>aAc	p.T206N		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	206					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	p.T206N(2)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTGCAGGGAGGTCAGGGCGGT	0.687000													6	46					0	0	1	0	0
CCDC144B	284047	broad.mit.edu	37	17	18528456	18528456	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:18528456G>T	uc002guc.2	-	0	475	c.305C>A	c.(304-306)cCt>cAt	p.P102H	CCDC144B_uc002gua.4_Non-coding_Transcript|CCDC144B_uc010vyc.2_Non-coding_Transcript					Homo sapiens coiled-coil domain containing 144B (pseudogene) (CCDC144B), non-coding RNA.											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						AGTGTCTCCAGGAGCCAAGAC	0.637000													23	272					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530401	42530401	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr18:42530401G>A	uc010dni.3	+	3	1392	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	366						nucleus	DNA binding	p.E366K(2)|p.E312K(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGACAATACAGAAGGGAAAAG	0.453000									Schinzel-Giedion syndrome				33	149					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32023935	32023935	+	Silent	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:32023935G>T	uc003nzl.2	-	23	8362	c.8160C>A	c.(8158-8160)acC>acA	p.T2720T		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2778	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.T2807T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGCTGGGGGTCTCTTCCT	0.627000													9	66					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42492276	42492276	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:42492276T>C	uc002osh.3	-	3	323	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E	ATP1A3_uc010xwf.2_Missense_Mutation_p.K68E|ATP1A3_uc010xwg.2_Missense_Mutation_p.K27E|ATP1A3_uc002osg.3_Missense_Mutation_p.K57E|ATP1A3_uc010xwh.2_Missense_Mutation_p.K70E			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	57					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.K57E(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCCTGGGCTTTGCTGTGGGTC	0.627000													20	113					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155448258	155448258	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:155448258C>A	uc009wqq.3	-	2	4883	c.4403G>T	c.(4402-4404)aGt>aTt	p.S1468I	ASH1L_uc001fkt.3_Missense_Mutation_p.S1468I|ASH1L_uc009wqr.1_Missense_Mutation_p.S1468I	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1468					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.S1468I(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGAGGAACACTGGGGTAGGT	0.488000													35	175					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22216543	22216543	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:22216543T>A	uc009vqd.3	-	5	545	c.505A>T	c.(505-507)Atc>Ttc	p.I169F	HSPG2_uc001bfj.3_Missense_Mutation_p.I169F|HSPG2_uc009vqe.1_Silent_p.S67S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	169	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.I169F(2)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCGCTGGAGATGACCCTGAGC	0.617000													18	147					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735287	54735287	+	Silent	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:54735287T>C	uc003pck.3	+	1	359	c.243T>C	c.(241-243)gaT>gaC	p.D81D		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	81								p.D81D(2)|p.D80D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTACTGATGATTCCTGTGATG	0.433000													53	329					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37622688	37622688	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:37622688C>G	uc003onu.1	-	4	1779	c.600G>C	c.(598-600)aaG>aaC	p.K200N	MDGA1_uc003onw.3_5'Flank	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	200	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.K200N(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GGTTCTTCAGCTTCAGGACCT	0.612000													15	82					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41903833	41903833	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:41903833C>A	uc002oqq.3	+	0	140	c.101C>A	c.(100-102)gCt>gAt	p.A34D	BCKDHA_uc002oqm.4_Intron|EXOSC5_uc002oqo.3_5'Flank|BCKDHA_uc002oqp.2_5'UTR|BCKDHA_uc002oqr.3_Missense_Mutation_p.A34D|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	34					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	p.A34D(2)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CGGGGACTGGCTAGATCTGTG	0.602000													6	57					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5964828	5964828	+	Silent	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:5964828C>T	uc001alq.2	-	15	2260	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	664					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.K664K(3)|p.K664N(2)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AATACACAGTCTTTGGCCATG	0.577000													18	124					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651187	96651187	+	Silent	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:96651187C>T	uc003pop.4	+	2	497	c.156C>T	c.(154-156)aaC>aaT	p.N52N	FUT9_uc021zcw.1_Silent_p.N52N	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	52					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.N52N(2)|p.K51fs(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AAATGAAAAACTTCTTTTCCA	0.423000													33	163					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661373	36661373	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:36661373G>T	uc003ape.3	+	6	813	c.539G>T	c.(538-540)gGg>gTg	p.G180V	APOL1_uc011amn.1_Missense_Mutation_p.G41V|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.G41V|APOL1_uc003apf.3_Missense_Mutation_p.G164V|APOL1_uc011amp.2_Missense_Mutation_p.G164V|APOL1_uc011amq.2_Missense_Mutation_p.G146V|APOL1_uc010gwx.3_Missense_Mutation_p.G41V	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	164					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	p.G180V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTTGCAGATGGGGTTCAGAAG	0.522000													39	215					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8212299	8212299	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:8212299G>A	uc002mjf.3	-	0	83	c.66C>T	c.(64-66)gcC>gcT	p.A22A		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	22						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A22A(2)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGCACAACAGGGCCGACCAGG	0.692000													4	16					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369362	22369362	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr15:22369362C>A	uc010tzu.2	+	0	885	c.787C>A	c.(787-789)Cca>Aca	p.P263T	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P263T(2)|p.R262L(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATGCTCGCCCATTTGACTC	0.418000													39	616					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68873392	68873392	+	Missense_Mutation	SNP	T	T	A	rs35335568		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:68873392T>A	uc010yqj.2	+	0	599	c.439T>A	c.(439-441)Tct>Act	p.S147T	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	147						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.S147T(2)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCGCACTGTCTCTCTCTATGT	0.592000													8	213					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21826233	21826233	+	RNA	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:21826233G>T	uc002gyz.3	+	1		c.343G>T								Homo sapiens family with sequence similarity 27-like (FAM27L), non-coding RNA.									p.R71Q(1)|p.R71L(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		GCCACACCACGATACAGTCTT	0.542000													14	85					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167709633	167709633	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:167709633A>T	uc003qvq.3	+	2	558	c.383A>T	c.(382-384)aAg>aTg	p.K128M	UNC93A_uc003qvr.3_Missense_Mutation_p.K128M	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	128			K -> Q (in dbSNP:rs35313366).			integral to membrane|plasma membrane		p.K128M(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AAGGCGGGAAAGCGTGGCAAA	0.552000													30	219					0	0	1	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85055915	85055915	+	RNA	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr15:85055915T>C	uc002bkm.2	-	5		c.645A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		TCCTGTCTCCTGTTCAGGAGA	0.527000													3	19					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3643243	3643243	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:3643243G>A	uc002lyj.2	-	12	1736	c.1647C>T	c.(1645-1647)taC>taT	p.Y549Y	PIP5K1C_uc010xhq.2_Silent_p.Y549Y|PIP5K1C_uc010xhr.2_Silent_p.Y549Y	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	549					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.Y549Y(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCGCCCACCTGTACCGCGGCT	0.657000													14	64					0	0	1	0	0
HSDL2	84263	broad.mit.edu	37	9	115200783	115200783	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:115200783T>C	uc004bga.2	+	6	926	c.671T>C	c.(670-672)aTt>aCt	p.I224T	HSDL2_uc004bgc.2_Missense_Mutation_p.I151T|HSDL2_uc004bgb.2_Intron|HSDL2_uc011lww.2_Missense_Mutation_p.I19T|HSDL2_uc011lwv.2_Missense_Mutation_p.I103T	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 2 (HSDL2), transcript variant 1, mRNA.	224						peroxisome	oxidoreductase activity|sterol binding	p.I224T(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GTTGATATCATTGCAGATGCA	0.368000													21	126					0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	674590	674590	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:674590G>A	uc002frv.3	-	5	639	c.563C>T	c.(562-564)gCt>gTt	p.A188V	GLOD4_uc002frt.3_Missense_Mutation_p.A117V|GLOD4_uc002fru.3_Missense_Mutation_p.A173V|GLOD4_uc010vqc.2_Missense_Mutation_p.A164V	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	Homo sapiens glyoxalase domain containing 4 (GLOD4), mRNA.	188						mitochondrion		p.A173V(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCCCAGCAAAGCCCTTTGCTT	0.368000													51	396					0	0	1	0	0
C10orf47	254427	broad.mit.edu	37	10	11908743	11908743	+	Missense_Mutation	SNP	G	G	A	rs142957936		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:11908743G>A	uc001ikx.3	+	2	506	c.352G>A	c.(352-354)Ggg>Agg	p.G118R	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	118								p.G118R(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						ACCTGGCGCCGGGGAAGCCGA	0.637000													20	64					0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27802719	27802719	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:27802719T>G	uc002doz.2	-	6	1053	c.968A>C	c.(967-969)cAg>cCg	p.Q323P	GSG1L_uc010bya.1_Missense_Mutation_p.Q272P|GSG1L_uc010bxz.1_Missense_Mutation_p.Q186P|GSG1L_uc002doy.2_Missense_Mutation_p.Q168P	NM_001109763	NP_653276	Q6UXU4	GSG1L_HUMAN	Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA.	323						integral to membrane		p.Q168P(1)|p.Q323P(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GACCCAGCACTGTCGGTTCAG	0.642000													14	96					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60140573	60140573	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:60140573G>A	uc002izo.3	-	1	233	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	52					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P52P(2)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCTCAAAATGGGGTCTTCTT	0.453000													67	287					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389852	48389852	+	Silent	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:48389852C>T	uc001jez.3	-	0	1140	c.1026G>A	c.(1024-1026)acG>acA	p.T342T		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	342	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.T342T(2)		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)	GGTCCACCAGCGTGTAGTAGT	0.637000													17	82					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55273231	55273231	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:55273231G>T	uc003tqk.3	+	27	3800	c.3554G>T	c.(3553-3555)gGc>gTc	p.G1185V	EGFR_uc022adn.1_Missense_Mutation_p.G1140V|EGFR_uc011kco.2_Missense_Mutation_p.G1132V	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	1185					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G1185V(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGCCAAATGGCATCTTTAAG	0.527000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			9	74					0	0	1	0	0
C9orf117	286207	broad.mit.edu	37	9	130473624	130473624	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:130473624C>A	uc004brn.1	+	3	744	c.704C>A	c.(703-705)aCc>aAc	p.T235N	PTRH1_uc004brm.3_Intron|C9orf117_uc010mxl.1_Non-coding_Transcript	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	Homo sapiens chromosome 9 open reading frame 117 (C9orf117), mRNA.	235								p.T235N(2)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AACGGCATTACCCTGCAGATG	0.557000													11	93					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21417991	21417991	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr13:21417991A>C	uc001unq.4	-	4	527	c.491T>G	c.(490-492)tTg>tGg	p.L164W	XPO4_uc010tcr.1_Missense_Mutation_p.L90W	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	164					protein transport	cytoplasm|nucleus	protein binding	p.L137W(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAATTCACTCAATAGCGCAGT	0.348000													32	165					0	0	1	0	0
CCDC144B	284047	broad.mit.edu	37	17	18528457	18528457	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:18528457G>T	uc002guc.2	-	0	474	c.304C>A	c.(304-306)Cct>Act	p.P102T	CCDC144B_uc002gua.4_Non-coding_Transcript|CCDC144B_uc010vyc.2_Non-coding_Transcript					Homo sapiens coiled-coil domain containing 144B (pseudogene) (CCDC144B), non-coding RNA.											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						GTGTCTCCAGGAGCCAAGACG	0.637000													21	272					0	0	1	0	0
HP1BP3	50809	broad.mit.edu	37	1	21103089	21103089	+	Splice_Site	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:21103089C>G	uc001bdy.1	-	3	450	c.350_splice	c.e3+1	p.D117_splice	HP1BP3_uc001bdv.1_Splice_Site_p.D79_splice|HP1BP3_uc001bdw.1_Splice_Site_p.D117_splice|HP1BP3_uc010odh.1_Splice_Site_p.D79_splice|HP1BP3_uc001bea.2_Splice_Site_p.D116_splice|HP1BP3_uc001beb.3_Splice_Site_p.E117_splice	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	117					nucleosome assembly	nucleosome|nucleus	DNA binding	p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TAACTCCTTACTCCTTTTTGG	0.368000													46	243					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5445182	5445182	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr18:5445182T>G	uc002kmt.1	-	3	529	c.443A>C	c.(442-444)aAa>aCa	p.K148T	EPB41L3_uc010wzh.1_Missense_Mutation_p.K148T|EPB41L3_uc002kmu.1_Missense_Mutation_p.K148T|EPB41L3_uc010dkq.1_Missense_Mutation_p.K39T|EPB41L3_uc010dks.1_Missense_Mutation_p.K170T|EPB41L3_uc002kmv.1_Missense_Mutation_p.K39T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	148	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.K148T(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AAAGTAGTCTTTCTCTAGCAA	0.408000													48	278					0	0	1	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27934857	27934857	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:27934857G>A	uc002hei.3	+	1	325	c.212G>A	c.(211-213)gGc>gAc	p.G71D	ANKRD13B_uc002heh.3_5'UTR|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	71								p.G71D(2)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CTGGCGCACGGCGCAGACGTG	0.701000													16	72					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114804033	114804033	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:114804033G>T	uc001tvo.3	-	7	1414	c.919C>A	c.(919-921)Cca>Aca	p.P307T	TBX5_uc001tvp.3_Missense_Mutation_p.P307T|TBX5_uc001tvq.3_Missense_Mutation_p.P257T|TBX5_uc010syv.2_Missense_Mutation_p.P307T	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	307					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.P307T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGTTGGGTGGAGGCAGGAGG	0.532000													25	109					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102505453	102505453	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr14:102505453G>T	uc001yks.2	+	59	11486	c.11322G>T	c.(11320-11322)aaG>aaT	p.K3774N		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3774	AAA 5 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.K3774N(2)|p.L3773M(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAACCTGAAGAGAGAGGCTG	0.537000													21	130					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46712857	46712857	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:46712857G>C	uc002eef.4	-	5	817	c.718C>G	c.(718-720)Cag>Gag	p.Q240E	VPS35_uc002eed.3_Missense_Mutation_p.Q61E|VPS35_uc002eee.3_Missense_Mutation_p.Q201E	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	240					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	p.Q240E(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATATAAACCTGTTTGTAACGT	0.308000													39	188					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7673934	7673934	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:7673934G>A	uc002giu.1	+	24	4172	c.4158G>A	c.(4156-4158)aaG>aaA	p.K1386K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1386	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1386K(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACCCTACAAGGATAAGGGCC	0.552000													42	182					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52836783	52836783	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:52836783T>A	uc003dfv.2	+	12	1706	c.1670T>A	c.(1669-1671)cTc>cAc	p.L557H	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	557					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.L557H(3)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATTGAGCGGCTCTGGGCCTAC	0.607000													10	48					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267702	31267702	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:31267702C>G	uc003jhe.2	+	1	482	c.122C>G	c.(121-123)tCt>tGt	p.S41C	CDH6_uc003jhd.2_Missense_Mutation_p.S41C	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	41					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.S41C(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGGAGCTCTCTGGAAACAGC	0.483000													23	164					0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76259198	76259198	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:76259198G>T	uc003ker.3	+	5	1004	c.724G>T	c.(724-726)Gac>Tac	p.D242Y		NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	242					female pregnancy|learning or memory|signal transduction	soluble fraction		p.D242N(2)|p.D242Y(2)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGGAATAGGAGACTTTGTGGA	0.473000													64	307					0	0	1	0	0
LOX	4015	broad.mit.edu	37	5	121413182	121413182	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:121413182C>T	uc003ksu.3	-	0	874	c.499G>A	c.(499-501)Gtg>Atg	p.V167M	LOX_uc010jcq.3_5'Flank|LOX_uc010jcr.3_5'Flank|LOX_uc011cwk.2_5'Flank	NM_002317	NP_002308	P28300	LYOX_HUMAN	Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA.	167					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	p.V167M(2)		endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TCGTCGCCCACCATGCCGTCC	0.622000													26	133					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601501	13601501	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:13601501G>A	uc003gmz.1	-	9	7140	c.7023C>T	c.(7021-7023)tcC>tcT	p.S2341S	BOD1L1_uc010idr.1_Silent_p.S1678S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2341							DNA binding	p.S2341S(2)									CAATGCTGGCGGAAATTGGCA	0.522000													10	53					0	0	1	0	0
ZNF17	7565	broad.mit.edu	37	19	57931923	57931923	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:57931923G>A	uc002qop.1	+	3	1335	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	ZNF17_uc021vck.1_Missense_Mutation_p.E348K|ZNF17_uc002qoo.1_Missense_Mutation_p.E355K	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E355K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TCACACTGGAGAAAGGCCTTT	0.388000													42	187					0	0	1	0	0
LINC00518	221718	broad.mit.edu	37	6	10430136	10430136	+	RNA	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:10430136T>G	uc003myz.2	-	2		c.900A>C								Homo sapiens long intergenic non-protein coding RNA 518 (LINC00518), non-coding RNA.									p.T118P(1)									TACGCTTAAGTGTGATCACAG	0.483000											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	330					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085872	17085872	+	Missense_Mutation	SNP	A	A	G	rs1806514	by1000genomes	TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:17085872A>G	uc010ock.2	-	7	949	c.949T>C	c.(949-951)Tgg>Cgg	p.W317R	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.W307R(1)|p.W317R(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TCGAGGTTCCAGCAGAAGTTC	0.662000													3	42					0	0	1	0	0
TPTE2P3	220115	broad.mit.edu	37	13	53151293	53151293	+	RNA	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr13:53151293G>A	uc001vgw.3	+	19		c.2058G>A								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA.									p.V286I(2)									AAAAAGATTAGTTATTTATTC	0.358000													3	5					0	0	1	0	0
STK35	140901	broad.mit.edu	37	20	2083973	2083973	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr20:2083973C>T	uc002wfw.4	+	1	854	c.854C>T	c.(853-855)tCg>tTg	p.S285L	STK35_uc010zpu.2_Missense_Mutation_p.S152L	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	Homo sapiens serine/threonine kinase 35 (STK35), mRNA.	285	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	p.S285L(2)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AACAAGAGCTCGCAGCTTTAC	0.647000													6	63					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47432981	47432981	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:47432981C>T	uc003bib.3	+	10	1382	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	TBC1D22A_uc010haf.3_Missense_Mutation_p.H376Y|TBC1D22A_uc003bie.3_Missense_Mutation_p.H328Y|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.H359Y	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	406	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein homodimerization activity	p.H406Y(2)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGTGCACCGGCACCTGGACCA	0.597000													17	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438165	179438165	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:179438165T>C	uc021vsy.1	-	274	65215	c.64990A>G	c.(64990-64992)Aca>Gca	p.T21664A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T15359A|TTN_uc021vta.1_Missense_Mutation_p.T15292A|TTN_uc021vtb.1_Missense_Mutation_p.T15167A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22591	Fibronectin type-III 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T15167A(2)|p.T15292A(1)|p.T15359A(1)|p.T21662A(1)|p.T21664A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATAGTTGTCACTTCAGGG	0.458000													38	183					0	0	1	0	0
MTX1	4580	broad.mit.edu	37	1	155178660	155178660	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:155178660G>A	uc001fjb.3	+	0	171	c.65G>A	c.(64-66)aGt>aAt	p.S22N	THBS3_uc010pfu.2_5'Flank|THBS3_uc001fix.3_5'Flank|THBS3_uc009wqi.3_5'Flank|THBS3_uc001fiy.3_5'Flank|THBS3_uc010pfv.2_5'Flank|THBS3_uc001fja.2_Intron|THBS3_uc009wqj.1_Intron|MTX1_uc001fjc.3_Missense_Mutation_p.S22N	NM_002455	NP_002446	Q13505	MTX1_HUMAN	Homo sapiens metaxin 1 (MTX1), transcript variant 1, mRNA.	22					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding	p.S22N(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCTGGAGCAGTACAGGCCAC	0.697000													5	26					0	0	1	0	0
FLJ00322	0	broad.mit.edu	37	16	15023280	15023280	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:15023280T>C	uc010uzk.2	+	6	1123	c.847_splice	c.e6+2	p.G283_splice	NPIP_uc002dcx.4_Splice_Site					SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																		CGCTGGCGGGTGAGGAGATCG	0.701000													4	20					0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27802748	27802748	+	Silent	SNP	G	G	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:27802748G>C	uc002doz.2	-	6	1024	c.939C>G	c.(937-939)tcC>tcG	p.S313S	GSG1L_uc010bya.1_Silent_p.S262S|GSG1L_uc010bxz.1_Silent_p.S176S|GSG1L_uc002doy.2_Silent_p.S158S	NM_001109763	NP_653276	Q6UXU4	GSG1L_HUMAN	Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA.	313						integral to membrane		p.S313S(1)|p.S158S(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CTTCCTGTGCGGAGCTCCGGG	0.637000													9	72					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043984	20043984	+	Silent	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:20043984G>T	uc002dgu.1	-	1	297	c.135C>A	c.(133-135)atC>atA	p.I45I	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	45						integral to membrane|plasma membrane		p.I45I(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCACTGTCAAGATATTTGCTG	0.478000													4	48					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1168808	1168808	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:1168808G>T	uc002qwq.3	+	7	659	c.530G>T	c.(529-531)aGt>aTt	p.S177I	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	177					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.S177I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GACCACAGCAGTGGGGCCTCC	0.488000													47	335					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66765694	66765694	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:66765694G>A	uc001stk.3	-	21	2877	c.2636C>T	c.(2635-2637)tCg>tTg	p.S879L	GRIP1_uc010sta.1_Missense_Mutation_p.S823L|GRIP1_uc001stj.3_Missense_Mutation_p.S646L|GRIP1_uc001stm.3_Missense_Mutation_p.S864L|GRIP1_uc001stl.1_Missense_Mutation_p.S756L	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	931					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	p.S879L(4)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGTGCTCCCCGACATGATTGT	0.517000													24	110					0	0	1	0	0
ART4	420	broad.mit.edu	37	12	14993378	14993378	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:14993378C>A	uc001rcl.1	-	2	1219	c.853_splice	c.e2+1	p.A285_splice	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.G285V	NM_021071	NP_066549	Q93070	NAR4_HUMAN	Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.	285					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	p.?(1)		large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						ATAAAGAATACCTTTTAGCAG	0.388000													17	109					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25792603	25792603	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:25792603C>G	uc003cdl.3	-	3	752	c.644G>C	c.(643-645)aGa>aCa	p.R215T	NGLY1_uc010hfg.3_Missense_Mutation_p.R215T|NGLY1_uc003cdm.3_Missense_Mutation_p.R215T|NGLY1_uc011awo.2_Missense_Mutation_p.R173T|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	215					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.R215T(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATCCAATTTTCTAGCTCTCGA	0.348000													15	82					0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71165834	71165834	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:71165834C>G	uc002jje.3	+	1	736	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	SSTR2_uc021ucm.1_Missense_Mutation_p.Q126E	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	126					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	p.Q126E(2)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TGGCATCAATCAGTTCACCAG	0.587000													25	104					0	0	1	0	0
LCN2	3934	broad.mit.edu	37	9	130913928	130913928	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:130913928G>A	uc004bto.1	+	2	360	c.287G>A	c.(286-288)tGt>tAt	p.C96Y	LCN2_uc011map.1_Missense_Mutation_p.C96Y	NM_005564	NP_005555	P80188	NGAL_HUMAN	Homo sapiens lipocalin 2 (LCN2), mRNA.	96					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.C96Y(2)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						AAAAAGAAGTGTGACTACTGG	0.582000													21	117					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1851472	1851472	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr8:1851472G>A	uc003wpr.3	+	15	1854	c.1676G>A	c.(1675-1677)gGc>gAc	p.G559D	ARHGEF10_uc003wpq.1_Missense_Mutation_p.G583D|ARHGEF10_uc003wps.3_Missense_Mutation_p.G521D|ARHGEF10_uc003wpt.3_Missense_Mutation_p.G435D|ARHGEF10_uc003wpv.3_Missense_Mutation_p.G292D|ARHGEF10_uc010lre.3_Missense_Mutation_p.G239D	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	584	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding	p.G584D(1)|p.G336D(1)|p.G559D(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACCTCCAAAGGCCACCCCGAC	0.537000													43	221					0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45467201	45467201	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:45467201G>C	uc001jbp.3	+	1	1685	c.136G>C	c.(136-138)Gtg>Ctg	p.V46L	RASSF4_uc001jbo.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	0					cell cycle|signal transduction		protein binding	p.R45S(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGAGTACATGTGTGTCTTTC	0.542000													16	101					0	0	1	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332506	71332506	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:71332506G>T	uc001jpp.3	-	1	540	c.294C>A	c.(292-294)aaC>aaA	p.N98K	NEUROG3_uc021pry.1_Missense_Mutation_p.N98K	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	Homo sapiens neurogenin 3 (NEUROG3), mRNA.	98	Helix-loop-helix motif.			N -> D (in Ref. 1; CAB45384).	central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	p.N98K(2)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CCGAGTTGAGGTTGTGCATTC	0.642000													7	44					0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27840880	27840880	+	Silent	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr21:27840880G>T	uc002yme.3	-	3	730	c.408C>A	c.(406-408)acC>acA	p.T136T	CYYR1_uc002ymd.3_Silent_p.T135T|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	135						integral to membrane		p.T135T(2)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GACCCTGTGGGGTGGGGGAGT	0.532000													20	101					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379198	32379198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr20:32379198G>T	uc002wzy.3	+	14	2460	c.2440G>T	c.(2440-2442)Gag>Tag	p.E814*	ZNF341_uc002wzx.3_Nonsense_Mutation_p.E807*|ZNF341_uc010geq.3_Nonsense_Mutation_p.E724*|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Nonsense_Mutation_p.E241*	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E807*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGCGGAAACTGAGCTGGTGGT	0.711000													7	69					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354650	42354650	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:42354650G>C	uc010xwe.2	+	6	1109	c.1026G>C	c.(1024-1026)caG>caC	p.Q342H	DMRTC2_uc002orr.1_Missense_Mutation_p.Q219H|DMRTC2_uc002ors.3_Missense_Mutation_p.Q291H	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	291	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.Q291H(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GGCAGCTGCAGCAAGAGGCAG	0.632000													8	94					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66725338	66725338	+	Silent	SNP	A	A	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:66725338A>G	uc001sti.2	+	11	3103	c.3075A>G	c.(3073-3075)gtA>gtG	p.V1025V	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	1025					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.V1025V(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGATGGAGTAGATACAGATG	0.438000													26	133					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451342	155451342	+	Silent	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:155451342C>T	uc003qqb.3	+	5	2258	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	TIAM2_uc003qqe.3_Silent_p.L329L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	329					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.L329L(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCATGCCAGCCTGAGCAACCG	0.577000													15	88					0	0	1	0	0
TTC4	7268	broad.mit.edu	37	1	55186887	55186893	+	Frame_Shift_Del	DEL	CCTGCCA	-	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:55186887_55186893delCCTGCCA	uc001cxv.3	+	3	608_614	c.476_482delCCTGCCA	c.(475-483)ccctgccacfs	p.P159fs	HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Frame_Shift_Del_p.P148fs			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	148							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAGCTAAAACCCTGCCACCTCAAAGCA	0.357													8	85	---	---	---	---					
RASAL2	9462	broad.mit.edu	37	1	178433459	178433461	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:178433459_178433461delCAG	uc001glq.3	+	14	4063_4065	c.3299_3301delCAG	c.(3298-3303)acagca>aca	p.A1102del	RASAL2_uc001glr.3_In_Frame_Del_p.A961del|RASAL2_uc009wxc.3_In_Frame_Del_p.A475del	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	961					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTAGAGAGGACAGCAGCCTGGGT	0.483													14	103	---	---	---	---					
REV1	51455	broad.mit.edu	37	2	100055101	100055102	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:100055101_100055102insT	uc002tad.3	-	5	1386_1387	c.1174_1175insA	c.(1174-1176)atgfs	p.M392fs	REV1_uc002tac.3_Frame_Shift_Ins_p.M392fs|REV1_uc002tae.1_Frame_Shift_Ins_p.M371fs	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	392					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGTTTTCATTTTTTTTAAC	0.351								Direct reversal of damage					9	263	---	---	---	---					
SDAD1	55153	broad.mit.edu	37	4	76888458	76888458	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:76888458delC	uc003hje.4	-	11	1136	c.1017delG	c.(1015-1017)ttgfs	p.L339fs	SDAD1_uc003hjf.4_Frame_Shift_Del_p.L242fs|SDAD1_uc011cbr.2_Frame_Shift_Del_p.L302fs	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	339					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAACCTTTGCAAAAAGGGAT	0.418													15	60	---	---	---	---					
GAPVD1	26130	broad.mit.edu	37	9	128113082	128113086	+	Frame_Shift_Del	DEL	TGCGC	-	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:128113082_128113086delTGCGC	uc004bpp.3	+	21	3741_3745	c.3581_3585delTGCGC	c.(3580-3585)atgcgcfs	p.M1194fs	GAPVD1_uc004bpq.3_Frame_Shift_Del_p.M1167fs|GAPVD1_uc010mwx.3_Frame_Shift_Del_p.M1185fs|GAPVD1_uc004bpr.3_Frame_Shift_Del_p.M1146fs|GAPVD1_uc004bps.3_Frame_Shift_Del_p.M1140fs|GAPVD1_uc004bpt.3_Frame_Shift_Del_p.M200fs	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1185					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAAGAAACAATGCGCTGTGTGTGCC	0.361													32	264	---	---	---	---					
BRCA2	675	broad.mit.edu	37	13	32910661	32910662	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr13:32910661_32910662insA	uc001uub.1	+	10	2396_2397	c.2169_2170insA	c.(2167-2172)agcaaafs	p.S723fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	723	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATCCAAAAAGCAAAAAAGTTTC	0.376			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			25	87	---	---	---	---					
PEAK1	79834	broad.mit.edu	37	15	77407550	77407566	+	Frame_Shift_Del	DEL	CAGCAAGGAAATGACCA	-	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr15:77407550_77407566delCAGCAAGGAAATGACCA	uc021sqy.1	-	7	4749_4765	c.4173_4189delTGGTCATTTCCTTGCTG	c.(4171-4191)tgtggtcatttccttgctgaafs	p.C1391fs		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1391	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TTAGGGACTTCAGCAAGGAAATGACCACAGTCCTGCT	0.479													16	218	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41424003	41424003	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr21:41424003delA	uc002yyq.1	-	29	5519	c.5067delT	c.(5065-5067)gctfs	p.A1689fs	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.	1689					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)				CTCCAAAGTCAGCATCCGTCA	0.532													19	168	---	---	---	---					
