Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LRRC10	376132	broad.mit.edu	37	12	70003788	70003788	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:70003788G>A	uc001svc.3	-	0	1155	c.831C>T	c.(829-831)tcC>tcT	p.S277S		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	277						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AAGCTCCTCAGGAGTTGGTAG	0.557000														22			6		0	0	8.12818e-05	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431932	140431932	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:140431932C>T	uc003lik.1	+	0	954	c.877C>T	c.(877-879)Cag>Tag	p.Q293*		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	293	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGACGTTTCAGATTGACCC	0.468000														28			20		0	0	0.00121646	0	0
GANC	2595	broad.mit.edu	37	15	42631883	42631883	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:42631883C>T	uc001zpi.3	+	16	2174	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	620					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TAGGCGGGTTCATTGGGAATC	0.527000														66			18		0	0	0.00152264	0	0
STRC	161497	broad.mit.edu	37	15	43896314	43896314	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:43896314C>T	uc001zsf.3	-	21	4333	c.4255G>A	c.(4255-4257)Gaa>Aaa	p.E1419K	STRC_uc010bdl.3_Missense_Mutation_p.E646K|STRC_uc001zse.3_5'UTR	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1419					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGCTGCTTTTCTAGAAGCCGC	0.587000														10			4		0	0	0.00024832	0	0
SUGP2	10147	broad.mit.edu	37	19	19135649	19135649	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:19135649C>G	uc002nkz.1	-	2	1570	c.1550G>C	c.(1549-1551)gGc>gCc	p.G517A	SUGP2_uc002nkx.2_Missense_Mutation_p.G503A|SUGP2_uc002nla.1_Missense_Mutation_p.G503A|SUGP2_uc002nlb.2_Missense_Mutation_p.G503A|SUGP2_uc010xqk.1_Missense_Mutation_p.G272A	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	503					RNA splicing|mRNA processing	nucleus	RNA binding	p.F517F(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATCTTGCAGGCCGACAGCTTC	0.512000														66			44		0	0	0.000781405	0	0
LCE3A	353142	broad.mit.edu	37	1	152595489	152595489	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:152595489T>A	uc010pdt.2	-	0	91	c.91A>T	c.(91-93)Agc>Tgc	p.S31C		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	Homo sapiens late cornified envelope 3A (LCE3A), mRNA.	31					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCACAGCTGGAGGAAGCT	0.652000														15			24		0	0	0.00047179	0	0
ST18	9705	broad.mit.edu	37	8	53085104	53085104	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:53085104G>A	uc003xqz.2	-	4	473	c.317C>T	c.(316-318)tCa>tTa	p.S106L	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.S71L|ST18_uc011lds.1_Missense_Mutation_p.S11L|ST18_uc003xra.2_Missense_Mutation_p.S106L|ST18_uc003xrb.2_Missense_Mutation_p.S106L	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	106						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTGTGCAGTTGAAAGAAGACT	0.328000														41			14		0	0	0.000308642	0	0
ENPEP	2028	broad.mit.edu	37	4	111470695	111470695	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:111470695C>T	uc003iab.4	+	15	2579	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	746					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTACTCCGTTCCTCCGTGTTA	0.383000														25			31		0	0	0.000692331	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518814	113518814	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:113518814C>T	uc010ljy.1	-	3	2364	c.2333G>A	c.(2332-2334)gGg>gAg	p.G778E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	778					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATCATTTCTCCCTTCATGTGG	0.388000														59			31		0	0	0.000491102	0	0
SERPINI1	5274	broad.mit.edu	37	3	167510377	167510377	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:167510377G>A	uc003ffa.4	+	4	680	c.482_splice	c.e4-1	p.N161_splice	SERPINI1_uc003ffb.4_Splice_Site_p.N161_splice	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	161					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCCTAAATAGATCTGGTGAA	0.398000														27			20		0	0	0.00188189	0	0
UAP1	6675	broad.mit.edu	37	1	162567623	162567623	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:162567623C>T	uc001gce.4	+	8	1729	c.1400C>T	c.(1399-1401)tCt>tTt	p.S467F		NM_003115	NP_003106	Q16222	UAP1_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA.	484					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	p.I466M(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGTGAAATCTCTCCTCTTATC	0.338000														65			120		0	0	0.000781405	0	0
LAMA1	284217	broad.mit.edu	37	18	7080343	7080343	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:7080343G>A	uc002knm.3	-	1	269	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	59	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGACGGGCCGACCTGGCACA	0.547000														48			32		0	0	0.000491102	0	0
FAM48B2	170067	broad.mit.edu	37	X	24330958	24330958	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:24330958C>T	uc011mjw.2	-	0	475	c.475G>A	c.(475-477)Ggt>Agt	p.G159S		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	159										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						CTTTGGTAACCAGGAGGTTGC	0.468000														92			46		0	0	0.000781405	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891347	89891347	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:89891347G>A	uc001pdf.4	+	6	940	c.831G>A	c.(829-831)gtG>gtA	p.V277V	NAALAD2_uc009yvx.3_Silent_p.V277V|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Silent_p.V277V|NAALAD2_uc001pde.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	277	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.G276*(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAGAAGGAGTGGGAATCCCCC	0.313000														112			53		0	0	0.000781405	0	0
EMBP1	647121	broad.mit.edu	37	1	121306583	121306583	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:121306583T>C	uc009wht.1	+	0	160	c.131T>C	c.(130-132)aTt>aCt	p.I44T	EMBP1_uc001eiu.1_Non-coding_Transcript					Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA.																		GAAGAACACATTGAGCTTGTG	0.433000														26			25		0	0	0.00127121	0	0
KLC2	64837	broad.mit.edu	37	11	66030338	66030338	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:66030338C>T	uc010rov.1	+	4	826	c.583C>T	c.(583-585)Ccg>Tcg	p.P195S	KLC2_uc010row.1_Missense_Mutation_p.P195S|KLC2_uc001ohb.2_Missense_Mutation_p.P195S|KLC2_uc010rox.1_Missense_Mutation_p.P118S|KLC2_uc001ohc.2_Missense_Mutation_p.P195S|KLC2_uc001ohd.2_Missense_Mutation_p.P118S|KLC2_uc001ohe.1_Missense_Mutation_p.P56S	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	195					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTACGAGATCCCGGCCCGGCT	0.637000														42			15		0	0	0.000566183	0	0
CERCAM	51148	broad.mit.edu	37	9	131198057	131198057	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:131198057C>T	uc004buz.4	+	11	2059	c.1661C>T	c.(1660-1662)cCa>cTa	p.P554L	CERCAM_uc004buy.1_Missense_Mutation_p.P476L|CERCAM_uc010mxz.3_Missense_Mutation_p.P476L	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	554					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						ACATCCTCTCCATGGGATGAT	0.687000														10			10		0	0	0.00136819	0	0
KLHL24	54800	broad.mit.edu	37	3	183368779	183368779	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:183368779T>C	uc003flv.3	+	2	930	c.635T>C	c.(634-636)cTt>cCt	p.L212P	KLHL24_uc003flw.3_Missense_Mutation_p.L212P|KLHL24_uc003flx.3_Missense_Mutation_p.L212P	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	212	BACK.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAAGATGAACTTATTGATTAT	0.378000														71			28		0	0	0.000491102	0	0
ZNF284	342909	broad.mit.edu	37	19	44586179	44586179	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:44586179C>T	uc002oyg.1	+	3	372	c.156C>T	c.(154-156)tcC>tcT	p.S52S	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATCAACTTTCCCACCGAGATA	0.403000														40			11		0	0	0.00136819	0	0
ATG2A	23130	broad.mit.edu	37	11	64662526	64662526	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:64662526G>A	uc001obx.3	-	40	5851	c.5736C>T	c.(5734-5736)ctC>ctT	p.L1912L	AB429224_uc009ypx.3_5'Flank|ATG2A_uc001obw.3_Silent_p.L677L	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1912							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCATGCCCCCGAGCAGGCTGG	0.706000														32			25		0	0	0.000814825	0	0
DNAJB8	165721	broad.mit.edu	37	3	128182017	128182017	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:128182017G>A	uc003ekk.1	-	2	1733	c.72C>T	c.(70-72)cgC>cgT	p.R24R	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Silent_p.R24R	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	24	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGGCCAGCTTGCGGTAGGCTT	0.587000														63			35		0	0	0.000953801	0	0
C2CD3	26005	broad.mit.edu	37	11	73760455	73760455	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:73760455G>A	uc001ouu.2	-	26	5515	c.5288C>T	c.(5287-5289)tCc>tTc	p.S1763F	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1763						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTCCAAAGGGGAGACAGCAAC	0.488000														36			15		0	0	0.000422831	0	0
FAT2	2196	broad.mit.edu	37	5	150947457	150947458	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:150947457_150947458GG>TT	uc003lue.4	-	0	1048_1049	c.1035_1036CC>AA	c.(1033-1038)tcccag>tcAAag	p.Q346K	FAT2_uc010jhx.1_Missense_Mutation_p.Q346K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	346					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCTGATCTGGGAATAAAAAT	0.505000														89			7		0	0	6.4e-05	0	0
DSP	1832	broad.mit.edu	37	6	7580076	7580076	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:7580076A>T	uc003mxp.1	+	22	3932	c.3653A>T	c.(3652-3654)aAg>aTg	p.K1218M	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.K1218M	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1218	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AACATTACGAAGACCACCATC	0.358000														27			33		0	0	0.000409698	0	0
COL27A1	85301	broad.mit.edu	37	9	116945341	116945341	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:116945341C>T	uc011lxl.2	+	4	2002	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.P518S	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	668	Collagen-like 1.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCTCCCCGGCCCTCCTGGAGC	0.552000														39			30		0	0	0.000692331	0	0
POLG	5428	broad.mit.edu	37	15	89876715	89876715	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:89876715C>T	uc002bns.4	-	1	553	c.271G>A	c.(271-273)Gga>Aga	p.G91R	POLG_uc002bnr.4_Missense_Mutation_p.G91R|TRNA_Arg_uc021sue.1_5'Flank	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	91					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ATCTCCCCTCCTTGCCCGAAG	0.682000								DNA polymerases (catalytic subunits)						11			4		0	0	0.00024832	0	0
LUZP1	7798	broad.mit.edu	37	1	23420592	23420592	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:23420592C>T	uc001bgk.2	-	3	713	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	LUZP1_uc010odv.1_Missense_Mutation_p.E55K|LUZP1_uc001bgl.3_Missense_Mutation_p.E55K|LUZP1_uc001bgm.1_Missense_Mutation_p.E55K	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	55						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGCTACCTTCTGCCTGAATC	0.517000														53			50		0	0	0.000781405	0	0
PLCG1	5335	broad.mit.edu	37	20	39794389	39794389	+	Silent	SNP	C	T	T	rs146548575		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:39794389C>T	uc002xjp.1	+	15	1843	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	PLCG1_uc002xjo.1_Silent_p.I574I|PLCG1_uc010zwe.1_Silent_p.I200I|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	574	SH2 1.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AGTACTGCATCGAGACCGGAG	0.597000														28			18		0	0	0.00121646	0	0
SOX7	83595	broad.mit.edu	37	8	10583576	10583576	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:10583576G>A	uc011kwz.2	-	5	1028	c.995C>T	c.(994-996)tCt>tTt	p.S332F	SOX7_uc003wtf.3_Missense_Mutation_p.S280F	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	280	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.F332F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		ATAGGCAGGAGATGGGGGACA	0.677000														12			10		0	0	0.000673444	0	0
TCF4	6925	broad.mit.edu	37	18	53128261	53128261	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:53128261G>A	uc002lga.3	-	5	659	c.599C>T	c.(598-600)tCc>tTc	p.S200F	TCF4_uc002lfy.2_Missense_Mutation_p.S56F|TCF4_uc010xdx.1_Missense_Mutation_p.S74F|TCF4_uc021ukj.1_Missense_Mutation_p.S98F|TCF4_uc021ukk.1_Missense_Mutation_p.S98F|TCF4_uc021ukl.1_Missense_Mutation_p.S96F|TCF4_uc002lfz.2_Missense_Mutation_p.S98F|TCF4_uc010dph.1_Missense_Mutation_p.S98F|TCF4_uc010dpi.3_Missense_Mutation_p.S98F|TCF4_uc010xdy.1_Missense_Mutation_p.S74F|TCF4_uc002lgc.4_Missense_Mutation_p.S19F	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	98					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTGTATTCTGGAATTGACAAA	0.388000														19			11		0	0	0.000978159	0	0
C20orf26	26074	broad.mit.edu	37	20	20037317	20037317	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:20037317C>T	uc002wru.3	+	1	134	c.20C>T	c.(19-21)cCa>cTa	p.P7L	C20orf26_uc010gcw.2_Intron|C20orf26_uc010zse.2_Missense_Mutation_p.P7L|C20orf26_uc010zsf.1_Missense_Mutation_p.P7L|CRNKL1_uc002wrs.3_5'Flank|CRNKL1_uc002wrt.1_5'Flank	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	7										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCACTTCTCCAAGAGGAAAG	0.358000														57			31		0	0	0.000692331	0	0
C14orf181	0	broad.mit.edu	37	14	69262883	69262883	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:69262883C>T	uc021rvf.1	-	0	129	c.129G>A	c.(127-129)agG>agA	p.R43R	ZFP36L1_uc001xki.2_5'Flank|ZFP36L1_uc001xkh.2_5'Flank|ZFP36L1_uc021rve.1_5'UTR					Synthetic construct DNA, clone: pF1KE0588, Homo sapiens C14orf181 gene for chromosome 14 open reading frame 181, without stop codon, in Flexi system.											NS(1)|cervix(1)|lung(2)|ovary(1)|urinary_tract(1)	6				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)		GGAGCGCGTCCCTTCGTGGGG	0.662000														29			16		0	0	0.000958276	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100155	121100155	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:121100155C>T	uc003eec.4	+	22	2575	c.2435C>T	c.(2434-2436)tCc>tTc	p.S812F	STXBP5L_uc011bji.2_Missense_Mutation_p.S788F	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	812					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CGAGAAAATTCCTATAATCGT	0.284000														66			37		0	0	0.00111076	0	0
DNAH11	8701	broad.mit.edu	37	7	21721170	21721170	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:21721170C>T	uc003svc.3	+	30	5381	c.5350C>T	c.(5350-5352)Cag>Tag	p.Q1784*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1784	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTAGATTTCTCAGCTGAATAC	0.378000									Kartagener syndrome					28			8		0	0	0.000157383	0	0
PYGL	5836	broad.mit.edu	37	14	51372192	51372192	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:51372192T>A	uc001wyu.3	-	19	2589	c.2462A>T	c.(2461-2463)tAt>tTt	p.Y821F	PYGL_uc010tqq.2_Missense_Mutation_p.Y787F	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	821					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GTTTTGGGCATATTCTTTAAT	0.383000														83			25		0	0	0.000586117	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														37			5		0	0	0.000157383	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061916	13061916	+	Missense_Mutation	SNP	C	T	T	rs150619249		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:13061916C>T	uc001rba.3	+	1	1383	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	245						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TGACACCATCCTCAGCTCCGC	0.552000														23			18		0	0	0.000958276	0	0
ATAD2	29028	broad.mit.edu	37	8	124346237	124346237	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:124346237G>A	uc003yqh.4	-	23	3467	c.3359C>T	c.(3358-3360)cCg>cTg	p.P1120L	ATAD2_uc011lii.2_Missense_Mutation_p.P911L|ATAD2_uc003yqi.4_Non-coding_Transcript	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	1120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.P1120P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTAGTAAGACGGGGCATATTT	0.378000														95			24		0	0	0.000586117	0	0
GRM6	2916	broad.mit.edu	37	5	178413955	178413955	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:178413955C>T	uc003mjr.3	-	6	1563	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.E45K|GRM6_uc003mjs.1_Missense_Mutation_p.E82K	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	462					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TCTCCGTTCTCGTTGAACATC	0.657000														5			4		0	0	0.000602214	0	0
GAPVD1	26130	broad.mit.edu	37	9	128064945	128064945	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:128064945C>T	uc004bpp.3	+	2	1029	c.869C>T	c.(868-870)aCc>aTc	p.T290I	GAPVD1_uc004bpo.3_Missense_Mutation_p.T290I|GAPVD1_uc011lzs.1_Missense_Mutation_p.T290I|GAPVD1_uc004bpq.3_Missense_Mutation_p.T290I|GAPVD1_uc010mwx.3_Missense_Mutation_p.T290I|GAPVD1_uc004bpr.3_Missense_Mutation_p.T290I|GAPVD1_uc004bps.3_Missense_Mutation_p.T290I|GAPVD1_uc010mwy.1_Missense_Mutation_p.T149I	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	290	Ras-GAP.				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						ATGTACAAAACCCTCTCCTGT	0.433000														61			31		0	0	0.000409698	0	0
SH3TC2	79628	broad.mit.edu	37	5	148389867	148389867	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:148389867G>T	uc003lpu.3	-	13	3445	c.3293C>A	c.(3292-3294)aCc>aAc	p.T1098N	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.T742N|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.T645N|SH3TC2_uc010jgx.3_Missense_Mutation_p.T1091N	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	1098							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTGGCGGGTCCCATTGAA	0.552000														18			24		5.77227e-19	4.94393e-18	0.001512	1	0
MTA3	57504	broad.mit.edu	37	2	42931360	42931360	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:42931360C>T	uc002rso.1	+	12	1551	c.881C>T	c.(880-882)tCc>tTc	p.S294F	MTA3_uc002rsp.1_Missense_Mutation_p.S294F|MTA3_uc002rsq.3_Missense_Mutation_p.S351F|MTA3_uc021vgm.1_Missense_Mutation_p.S39F	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.	351	SANT.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						AACCAAATATCCACTAGTAAT	0.418000														18			13		0	0	0.00136819	0	0
POSTN	10631	broad.mit.edu	37	13	38143461	38143461	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:38143461C>T	uc001uwo.4	-	20	2525	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	POSTN_uc010tet.2_Missense_Mutation_p.E304K|POSTN_uc001uwp.4_Missense_Mutation_p.E746K|POSTN_uc001uwr.3_Intron|POSTN_uc001uwq.3_Intron|POSTN_uc010teu.1_Missense_Mutation_p.E776K|POSTN_uc010tev.1_Missense_Mutation_p.E716K|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	803					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTTTAATTTCTTCATCTTCA	0.373000														39			37		0	0	0.000509022	0	0
DSCAM	1826	broad.mit.edu	37	21	41710126	41710126	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr21:41710126G>A	uc002yyq.1	-	7	2137	c.1685C>T	c.(1684-1686)tCa>tTa	p.S562L	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.	562	Ig-like C2-type 6.				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)				TTGCACATCTGAAAGTTTAAG	0.483000														57			23		0	0	0.000375601	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717691	142717691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:142717691G>A	uc022cfm.1	-	0	1234	c.1234C>T	c.(1234-1236)Caa>Taa	p.Q412*	SLITRK4_uc022cfl.1_Nonsense_Mutation_p.Q412*|SLITRK4_uc004fbx.3_Nonsense_Mutation_p.Q412*|SLITRK4_uc004fby.3_Nonsense_Mutation_p.Q412*	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	412						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGTAATTTGATTGCTGCCT	0.398000														89			40		0	0	0.00195071	0	0
ATP13A4	84239	broad.mit.edu	37	3	193232645	193232645	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:193232645G>A	uc003ftd.3	-	1	184	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ATP13A4_uc003fte.1_Missense_Mutation_p.R26W|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	26					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.R26W(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCTTGAGTCCGATAGCCAAAT	0.418000														24			18		0	0	0.000958276	0	0
CAMTA1	23261	broad.mit.edu	37	1	7798518	7798518	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:7798518C>T	uc001aoi.3	+	15	4365	c.4158C>T	c.(4156-4158)tgC>tgT	p.C1386C	CAMTA1_uc010nzv.1_Silent_p.C473C|CAMTA1_uc001aok.4_Silent_p.C429C|CAMTA1_uc001aoj.3_Silent_p.C342C	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.C1386C(4)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATGAAGAATGCGGCCAGCCCA	0.522000			T	WWTR1	epitheliod hemangioendothelioma									9			14		0	0	0.000219431	0	0
SETX	23064	broad.mit.edu	37	9	135202598	135202598	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:135202598C>T	uc004cbk.3	-	9	4570	c.4387G>A	c.(4387-4389)Gac>Aac	p.D1463N	SETX_uc004cbj.3_Missense_Mutation_p.D1082N|SETX_uc010mzt.3_Missense_Mutation_p.D1082N	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1463					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCCAGAGGGTCTTCTGAAGTG	0.458000														70			32		0	0	0.00058488	0	0
C14orf79	122616	broad.mit.edu	37	14	105459348	105459348	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:105459348C>T	uc001ypy.1	+	3	916	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	C14orf79_uc010tym.1_Non-coding_Transcript|C14orf79_uc001ypz.1_Non-coding_Transcript	NM_174891	NP_777551	Q96F83	CN079_HUMAN	Homo sapiens chromosome 14 open reading frame 79 (C14orf79), mRNA.	255										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TGAAGGACTCCTCACTGTCAG	0.567000														81			36		0	0	0.00128727	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														41			5		0	0	0.000602214	0	0
TNFRSF8	943	broad.mit.edu	37	1	12198305	12198305	+	Missense_Mutation	SNP	C	T	T	rs141539189	byFrequency	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:12198305C>T	uc001atq.3	+	13	1577	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	TNFRSF8_uc010obc.2_Missense_Mutation_p.S340L|TNFRSF8_uc001atr.3_5'UTR|TNFRSF8_uc001ats.3_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	452					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGGTGCGTCGGTGACAGAA	0.627000														10			16		0	0	0.000566183	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64556459	64556459	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:64556459C>T	uc003jtp.3	-	13	2612	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.E221K	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	600	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CGTTTCCTTTCCCCAAGGCAA	0.333000														23			13		0	0	0.000219431	0	0
RBP3	5949	broad.mit.edu	37	10	48383871	48383871	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:48383871C>T	uc001jez.3	-	2	3475	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1121	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTCCAGAGTTCACTGACAGAG	0.522000														42			19		0	0	0.000375601	0	0
OR2T2	401992	broad.mit.edu	37	1	248616301	248616301	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:248616301C>T	uc001iek.1	+	0	203	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S68F(2)|p.L67L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCCAGCTCTCCATCATGGAT	0.512000														90			43		0	0	0.000781405	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420920	55420920	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:55420920G>A	uc001sgp.4	+	1	1075	c.697G>A	c.(697-699)Gga>Aga	p.G233R	NEUROD4_uc021qyr.1_Missense_Mutation_p.G233R	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	233					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CAAGAGTTTGGGAGAATCGTC	0.517000														21			19		0	0	0.00121646	0	0
PAN2	9924	broad.mit.edu	37	12	56711414	56711414	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:56711414G>T	uc001skx.3	-	25	3965	c.3588C>A	c.(3586-3588)ttC>ttA	p.F1196L	CNPY2_uc001sku.2_5'Flank|CNPY2_uc001skv.3_5'Flank|PAN2_uc001skw.3_Missense_Mutation_p.F344L|PAN2_uc001sky.3_Missense_Mutation_p.F1192L|PAN2_uc001skz.3_Missense_Mutation_p.F1195L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	1196					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCACTGAGGAGAAGACAGCTG	0.478000														49			19		1.56452e-12	1.32504e-11	0.000958276	1	0
ZNF556	80032	broad.mit.edu	37	19	2877665	2877665	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:2877665G>A	uc002lwp.1	+	3	796	c.709G>A	c.(709-711)Ggg>Agg	p.G237R	ZNF556_uc002lwq.3_Missense_Mutation_p.G236R	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCAGTGTGGGAAAGGCTT	0.522000														22			8		0	0	0.000442599	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676527	234676527	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:234676527G>A	uc002vuw.3	+	2	1032	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	UGT1A1_uc010zmv.1_Silent_p.S340S|UGT1A1_uc002vup.3_Silent_p.S340S|UGT1A1_uc002vuq.3_Silent_p.S340S|UGT1A1_uc002vur.3_Silent_p.S340S|UGT1A1_uc010zmw.1_Silent_p.S340S|UGT1A1_uc002vus.3_Silent_p.S340S|UGT1A1_uc010zmx.1_Silent_p.S340S|UGT1A1_uc002vut.3_Silent_p.S340S|UGT1A1_uc002vuu.3_Silent_p.S75S|UGT1A1_uc010zmy.1_Silent_p.S342S|UGT1A1_uc002vuv.4_Silent_p.S342S|UGT1A1_uc010zmz.1_Silent_p.S344S|UGT1A1_uc010zna.1_Silent_p.S344S|UGT1A1_uc002vux.3_Silent_p.S344S|UGT1A1_uc010znb.1_Silent_p.S344S|UGT1A1_uc002vuy.3_Silent_p.S344S|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc010znc.1_Silent_p.S343S|UGT1A1_uc002vvb.3_Silent_p.S343S	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	343					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCGACCATCGAATCTTGCGA	0.443000														58			38		0	0	0.000781405	0	0
MGAM	8972	broad.mit.edu	37	7	141752605	141752605	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:141752605C>T	uc003vwy.3	+	25	3034	c.2980C>T	c.(2980-2982)Cct>Tct	p.P994S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	994	P-type 2.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCTGGAGTCCCTTTTTGCTA	0.418000														122			38		0	0	0.000680045	0	0
DEPTOR	64798	broad.mit.edu	37	8	121013833	121013833	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:121013833G>A	uc003yow.4	+	4	861	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	DEPTOR_uc011lid.2_Missense_Mutation_p.R124Q	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.	225	Poly-Arg.				intracellular signal transduction|negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						CGGCGGAGGCGAAGACTGATG	0.493000														30			30		0	0	0.00058488	0	0
SPRED3	399473	broad.mit.edu	37	19	38881013	38881013	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:38881013G>A	uc002oim.3	+	0	75	c.71G>A	c.(70-72)gGg>gAg	p.G24E	GGN_uc002oij.1_5'Flank|GGN_uc002oik.1_5'Flank|GGN_uc010efy.1_5'Flank|SPRED3_uc002oil.1_Missense_Mutation_p.G24E	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA.	24	WH1.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTGGGGGGCGGGGGCCTCAGC	0.726000														13			5		0	0	0.00116845	0	0
TRPM4	54795	broad.mit.edu	37	19	49693571	49693571	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:49693571C>T	uc002pmw.3	+	14	2234	c.2126C>T	c.(2125-2127)aCc>aTc	p.T709I	TRPM4_uc010emu.3_Missense_Mutation_p.T709I|TRPM4_uc010yak.2_Missense_Mutation_p.T173I|TRPM4_uc002pmx.3_Missense_Mutation_p.T535I|TRPM4_uc010emv.3_Missense_Mutation_p.T594I|TRPM4_uc010yal.2_Missense_Mutation_p.T355I|TRPM4_uc002pmy.3_Missense_Mutation_p.T51I	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	709					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGCCTCATCACCTTCAGGTCA	0.607000														38			22		0	0	0.00127121	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419471	105419471	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:105419471G>T	uc010axc.1	-	6	2437	c.2317C>A	c.(2317-2319)Ctc>Atc	p.L773I	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L673I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	773						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCCTTGAGGTCCACTTTG	0.632000														97			6		1.12685e-05	9.43815e-05	0.000274275	1	0
SPAG6	9576	broad.mit.edu	37	10	22678203	22678203	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:22678203C>T	uc001iri.3	+	6	1134	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	SPAG6_uc010qct.2_Missense_Mutation_p.H298Y|SPAG6_uc009xkh.3_Missense_Mutation_p.H301Y|SPAG6_uc001irj.3_Missense_Mutation_p.H323Y|SPAG6_uc021poe.1_Missense_Mutation_p.H49Y	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	323					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGTAGCAGCTCATTCTGAGAA	0.463000														23			16		0	0	0.000566183	0	0
LRIT2	340745	broad.mit.edu	37	10	85981769	85981769	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:85981769G>A	uc010qmc.2	-	3	1598	c.1590C>T	c.(1588-1590)tcC>tcT	p.S530S	LRIT2_uc001kcy.3_Silent_p.S520S	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	520						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTTCTCTAAAGGAGCCATCCT	0.597000														48			16		0	0	0.000422831	0	0
XAGE3	170626	broad.mit.edu	37	X	52893828	52893828	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:52893828C>T	uc004dre.3	-	3	349	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	XAGE3_uc004drf.3_Missense_Mutation_p.E97K	NM_130776	NP_573440	Q8WTP9	GAGD4_HUMAN	Homo sapiens X antigen family, member 3 (XAGE3), transcript variant 2, mRNA.	97										kidney(1)|large_intestine(1)|lung(2)	4						TTAAATTGTTCTGATTTTGGC	0.403000														59			31		0	0	0.000491102	0	0
FA2H	79152	broad.mit.edu	37	16	74752945	74752945	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:74752945G>A	uc002fde.2	-	4	803	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	FA2H_uc002fdd.2_5'Flank|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	243					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTGTCGCTGGGGGGCTTCATG	0.607000														17			16		0	0	0.000566183	0	0
TTN	7273	broad.mit.edu	37	2	179571203	179571203	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:179571203C>T	uc021vsy.1	-	98	25891	c.25666G>A	c.(25666-25668)Gat>Aat	p.D8556N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D5217N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9483	Ig-like 68.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCTAAGATCGCCTTCAATT	0.413000														15			13		0	0	0.00136819	0	0
XIST	7503	broad.mit.edu	37	X	73063804	73063804	+	RNA	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:73063804G>A	uc004ebm.1	-	0		c.8785C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCCTTGGAGGGAAACAGTATA	0.383000														25			12		0	0	0.000978159	0	0
GAS2	2620	broad.mit.edu	37	11	22833419	22833419	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:22833419G>A	uc009yie.3	+	7	1105	c.799G>A	c.(799-801)Gac>Aac	p.D267N	GAS2_uc001mqm.3_Missense_Mutation_p.D267N|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.D267N	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	267	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GTTGAAACACGACCCCTGCCG	0.448000														38			26		0	0	0.000720815	0	0
LILRB4	11006	broad.mit.edu	37	19	55177365	55177365	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:55177365G>A	uc002qgp.3	+	6	1219	c.857G>A	c.(856-858)gGa>gAa	p.G286E	LILRB4_uc002qgq.3_Missense_Mutation_p.G286E|LILRB4_uc010ert.3_Missense_Mutation_p.G327E|LILRB4_uc010eru.3_Missense_Mutation_p.G315E	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	286						integral to membrane|plasma membrane	antigen binding|receptor activity	p.Q285H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGGCGTCAGGGAAAACACAGG	0.587000														33			16		0	0	0.000422831	0	0
TLR8	51311	broad.mit.edu	37	X	12939833	12939833	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:12939833T>A	uc004cvd.3	+	2	2898	c.2728T>A	c.(2728-2730)Tct>Act	p.S910T	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.S892T	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	892	TIR.				I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAAAGATGCCTCTGTTACTGA	0.433000														91			45		0	0	0.000781405	0	0
CPB1	1360	broad.mit.edu	37	3	148563299	148563299	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:148563299C>T	uc003ewl.3	+	8	890	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	289					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGGCTGATTTCATCCGCAACA	0.463000														52			34		0	0	0.00058488	0	0
KAT6B	23522	broad.mit.edu	37	10	76788641	76788641	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:76788641G>A	uc001jwn.1	+	17	4552	c.4059G>A	c.(4057-4059)gaG>gaA	p.E1353E	KAT6B_uc001jwo.1_Silent_p.E1061E|KAT6B_uc001jwp.1_Silent_p.E1170E	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1353	Poly-Glu.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CTgaggaagaggaagaggagg	0.453000														7			7		0	0	8.12818e-05	0	0
GABBR1	2550	broad.mit.edu	37	6	29577156	29577156	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:29577156C>T	uc003nmt.4	-	15	2045	c.1709_splice	c.e15-1	p.G570_splice	GABBR1_uc003nmp.4_Splice_Site_p.G453_splice|GABBR1_uc003nms.4_Splice_Site_p.G453_splice|GABBR1_uc003nmu.4_Splice_Site_p.G508_splice|GABBR1_uc011dlr.2_Splice_Site_p.G393_splice|GABBR1_uc011dls.1_Intron	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	570					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGGGGACCCTCCTGCATGGCA	0.532000														48			10		0	0	0.000978159	0	0
TMEM108	66000	broad.mit.edu	37	3	133099154	133099154	+	Missense_Mutation	SNP	G	A	A	rs140878635		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:133099154G>A	uc003epi.3	+	3	869	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	TMEM108_uc003eph.3_Missense_Mutation_p.R200Q|TMEM108_uc003epj.1_Missense_Mutation_p.R200Q|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	200						integral to membrane		p.R200Q(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGCGAGGACGAAATCCAAGC	0.592000														19			12		0	0	0.000978159	0	0
CYP7B1	9420	broad.mit.edu	37	8	65509349	65509349	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:65509349C>T	uc003xvj.2	-	5	1575	c.1371G>A	c.(1369-1371)atG>atA	p.M457I		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	457					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTTTTATTTCCATAAGTGCAA	0.353000														86			19		0	0	0.000958276	0	0
NUP98	4928	broad.mit.edu	37	11	3752738	3752738	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:3752738C>T	uc001lyh.3	-	13	2034	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	NUP98_uc001lyi.3_Missense_Mutation_p.R538H|NUP98_uc001lyj.2_Missense_Mutation_p.R538H|NUP98_uc001lyk.2_Missense_Mutation_p.R555H	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	555					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity	p.R538H(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTGGCAGGGCGGGGTGTCAG	0.458000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									124			34		0	0	0.00148497	0	0
MPDZ	8777	broad.mit.edu	37	9	13186385	13186385	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:13186385G>A	uc010mia.1	-	17	2422	c.2365_splice	c.e17-1	p.L789_splice	MPDZ_uc010mhz.3_Splice_Site_p.L789_splice|MPDZ_uc011lmn.2_Splice_Site_p.L789_splice|MPDZ_uc010mhy.3_Splice_Site_p.L789_splice|MPDZ_uc003zlb.4_Splice_Site_p.L789_splice	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	789					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCTGGTGAAAGCTGCAGGGAA	0.458000														4			5		0	0	0.000602214	0	0
ITGA9	3680	broad.mit.edu	37	3	37565067	37565067	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:37565067C>T	uc003chd.3	+	11	1345	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	ITGA9_uc003chc.3_Missense_Mutation_p.S431L	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	431					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAGTCCATATCGGGAGGCATT	0.398000														40			42		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179598197	179598197	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:179598197C>T	uc021vsy.1	-	50	12316	c.12091G>A	c.(12091-12093)Gga>Aga	p.G4031R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G692R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4958							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGGGATCTCCTGCTGTCACC	0.483000														135			44		0	0	0.000781405	0	0
IQCF1	132141	broad.mit.edu	37	3	51937094	51937094	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:51937094C>T	uc003dbv.3	-	1	113	c.15G>A	c.(13-15)caG>caA	p.Q5Q	IQCF1_uc003dbq.4_Non-coding_Transcript	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	5								p.Q5H(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCTTTTGGGGCTGCTTCTCCT	0.537000														183			112		0	0	0.000781405	0	0
USP9X	8239	broad.mit.edu	37	X	41057871	41057871	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:41057871G>A	uc004dfb.3	+	29	5104	c.4471G>A	c.(4471-4473)Gtc>Atc	p.V1491I	USP9X_uc004dfc.3_Missense_Mutation_p.V1491I	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1491					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GGCTATTCCGGTCTGTGGTTC	0.373000														52			23		0	0	0.000586117	0	0
MAP3K4	4216	broad.mit.edu	37	6	161528978	161528978	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:161528978G>A	uc003qtn.3	+	20	4238	c.4096G>A	c.(4096-4098)Ggg>Agg	p.G1366R	MAP3K4_uc010kkc.1_Missense_Mutation_p.G1362R|MAP3K4_uc003qto.3_Missense_Mutation_p.G1316R|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.G819R|MAP3K4_uc003qtp.3_Missense_Mutation_p.G302R|MAP3K4_uc003qtq.3_Missense_Mutation_p.G55R	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1366	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CGTCGACACCGGGGAGCTGAT	0.577000														12			14		0	0	0.000219431	0	0
ZZEF1	23140	broad.mit.edu	37	17	4020305	4020305	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:4020305G>A	uc002fxe.3	-	2	719	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	ZZEF1_uc002fxk.1_Silent_p.L219L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	219							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GACTCCTTCAGGACGGAAGAC	0.517000														114			48		0	0	0.000781405	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				43			62		0	0	0.000781405	0	0
MB21D1	115004	broad.mit.edu	37	6	74150069	74150069	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:74150069G>A	uc003pgx.1	-	2	1116	c.977C>T	c.(976-978)tCa>tTa	p.S326L		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA.	326										central_nervous_system(1)|large_intestine(4)|lung(1)	6						GCTACTTTTTGATTCCAAAGC	0.428000														51			87		0	0	0.000781405	0	0
OR52M1	119772	broad.mit.edu	37	11	4567275	4567275	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:4567275C>T	uc010qyf.2	+	0	855	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTATCTCCTCATTCCTCCAA	0.458000														25			15		0	0	0.000422831	0	0
RAI1	10743	broad.mit.edu	37	17	17699344	17699344	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:17699344G>A	uc002grm.3	+	2	3551	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K	RAI1_uc002grn.1_Missense_Mutation_p.E1028K	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1028						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTTGCTCCCTGAATCCTGCAC	0.682000														0			3		0	0	6.4e-05	0	0
PRRC2B	84726	broad.mit.edu	37	9	134319589	134319589	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:134319589C>G	uc004can.4	+	4	542	c.487C>G	c.(487-489)Cga>Gga	p.R163G	PRRC2B_uc004cam.1_Missense_Mutation_p.R163G	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	163							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGGCTCAAGCCGACTGTTATC	0.537000														16			7		0	0	0.000274275	0	0
RICTOR	253260	broad.mit.edu	37	5	38963106	38963106	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:38963106G>A	uc003jlo.2	-	16	1460	c.1438C>T	c.(1438-1440)Cat>Tat	p.H480Y	RICTOR_uc003jlp.2_Missense_Mutation_p.H480Y|RICTOR_uc010ivf.2_Missense_Mutation_p.H195Y	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	480					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding	p.F479F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTCATTTCATGGAAGCGTTTT	0.383000														37			22		0	0	0.000295444	0	0
PRAM1	84106	broad.mit.edu	37	19	8563934	8563934	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:8563934G>A	uc002mkd.3	-	1	821	c.758C>T	c.(757-759)cCc>cTc	p.P253L		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	301	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTTCCAGAGGGGAGTCTGAGC	0.627000														25			13		0	0	0.000219431	0	0
EXOSC1	51013	broad.mit.edu	37	10	99196960	99196960	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:99196960G>A	uc001kni.3	-	6	495	c.469C>T	c.(469-471)Cac>Tac	p.H157Y	EXOSC1_uc009xvp.1_Non-coding_Transcript	NM_016046	NP_057130	Q9Y3B2	EXOS1_HUMAN	Homo sapiens exosome component 1 (EXOSC1), mRNA.	157					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	RNA binding|protein binding	p.A156A(1)		breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		GACTCACTGTGGGCTACCACC	0.488000														62			34		0	0	0.00170553	0	0
TGIF2	60436	broad.mit.edu	37	20	35219438	35219439	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:35219438_35219439CC>TT	uc021wcv.1	+	2	532_533	c.318_319CC>TT	c.(316-321)ccccgt>ccTTgt	p.R107C	TGIF2_uc021wcu.1_Missense_Mutation_p.R107C|TGIF2_uc002xfn.3_Missense_Mutation_p.R107C|TGIF2_uc021wcw.1_Missense_Mutation_p.R107C|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	107	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGGCCCTCCCCCGTGGCAGCAG	0.634000														77			32		0	0	6.4e-05	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39911623	39911623	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:39911623C>T	uc010xuz.2	+	13	1759	c.1434C>T	c.(1432-1434)ggC>ggT	p.G478G	PLEKHG2_uc010xuy.2_Silent_p.G419G|PLEKHG2_uc002olj.3_Silent_p.G478G|PLEKHG2_uc010xva.2_Intron	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	478					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGCCGAGGCCGCAGGCAGT	0.667000														16			10		0	0	0.000442599	0	0
ZNF142	7701	broad.mit.edu	37	2	219508403	219508403	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:219508403G>A	uc002vin.3	-	7	3272	c.2836C>T	c.(2836-2838)Ccc>Tcc	p.P946S	ZNF142_uc002vil.3_Missense_Mutation_p.P907S|ZNF142_uc010fvt.3_Missense_Mutation_p.P783S|ZNF142_uc002vim.3_Missense_Mutation_p.P783S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	946					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCTCCCTGGGAAGCTCCAAA	0.567000														88			30		0	0	0.000814825	0	0
AMOTL2	51421	broad.mit.edu	37	3	134077418	134077418	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:134077418G>A	uc003eqf.2	-	8	2536	c.2419C>T	c.(2419-2421)Ctg>Ttg	p.L807L	AMOTL2_uc003eqg.1_Silent_p.L750L|AMOTL2_uc003eqh.1_Silent_p.L747L|AMOTL2_uc003eqe.1_Silent_p.L375L	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	749										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CTGCACCCCAGAAGGCTGTCA	0.647000											OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			5		0	0	8.12818e-05	0	0
ALG5	29880	broad.mit.edu	37	13	37524141	37524141	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:37524141A>T	uc001uvy.3	-	9	980	c.913T>A	c.(913-915)Ttt>Att	p.F305I	ALG5_uc010teq.2_Missense_Mutation_p.F275I|ALG5_uc010ter.2_Non-coding_Transcript	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA.	305					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		AGTCGTATAAAAAGTAGGTCT	0.353000														76			24		0	0	0.000409698	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12921165	12921165	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:12921165T>C	uc002mvg.1	+	5	644	c.584T>C	c.(583-585)tTc>tCc	p.F195S		NM_006397	NP_006388	O75792	RNH2A_HUMAN	Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA.	195					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	RNA binding|metal ion binding|ribonuclease H activity			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						AAATGGCAGTTCGTGGAGAAA	0.552000														44			20		0	0	0.000375601	0	0
SALL1	6299	broad.mit.edu	37	16	51174965	51174965	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:51174965G>A	uc021tif.1	-	1	1199	c.877C>T	c.(877-879)Cca>Tca	p.P293S	SALL1_uc021tid.1_Missense_Mutation_p.P293S|SALL1_uc021tie.1_Missense_Mutation_p.P390S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	390					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGTAGAAGTGGATTAGACGCA	0.522000														60			17		0	0	0.000958276	0	0
PRG4	10216	broad.mit.edu	37	1	186280225	186280225	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:186280225G>A	uc001gru.4	+	8	3610	c.3559G>A	c.(3559-3561)Gaa>Aaa	p.E1187K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.E1146K|PRG4_uc009wyl.3_Missense_Mutation_p.E1094K|PRG4_uc009wym.3_Missense_Mutation_p.E1053K|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	1187	Hemopexin-like 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAGAATTACTGAAGTTTGGGG	0.388000														44			71		0	0	0.000781405	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026654	176026654	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:176026654G>A	uc003meo.1	-	1	357	c.182C>T	c.(181-183)cCt>cTt	p.P61L	GPRIN1_uc021yif.1_Missense_Mutation_p.P61L	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	61						growth cone|plasma membrane		p.P61H(2)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTTGGTCAGGGGTGTGCCT	0.672000														42			20		0	0	0.00106085	0	0
HHAT	55733	broad.mit.edu	37	1	210577939	210577939	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:210577939C>T	uc010psr.2	+	4	708	c.603C>T	c.(601-603)tcC>tcT	p.S201S	HHAT_uc009xcx.3_Silent_p.S200S|HHAT_uc010psq.2_Intron|HHAT_uc009xcy.3_Silent_p.S135S|HHAT_uc010pss.2_Silent_p.S155S|HHAT_uc010pst.2_Silent_p.S137S|HHAT_uc001hhz.4_Silent_p.S200S|HHAT_uc021pip.1_Silent_p.S200S|HHAT_uc010psu.2_Silent_p.S135S	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	200					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCTCCTACTCCTTTCCCTGGA	0.562000														74			10		0	0	0.000673444	0	0
C10orf71	118461	broad.mit.edu	37	10	50531639	50531640	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:50531639_50531640GG>AA	uc021pqb.1	+	0	1049_1050	c.1049_1050GG>AA	c.(1048-1050)ggg>gAA	p.G350E	C10orf71_uc021pqa.1_Missense_Mutation_p.G349E|C10orf71_uc021pqc.1_Missense_Mutation_p.G350E	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	350										endometrium(1)	1						ATACCCTGGGGGTGCAGGGATC	0.594000														18			4		0	0	6.4e-05	0	0
ASTN1	460	broad.mit.edu	37	1	176863711	176863711	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:176863711T>G	uc001glc.3	-	16	3139	c.2927A>C	c.(2926-2928)aAc>aCc	p.N976T	ASTN1_uc001glb.1_Missense_Mutation_p.N976T|ASTN1_uc001gld.1_Missense_Mutation_p.N976T	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	984					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGGGTCTGGTTGTTGGTCAC	0.572000														45			6		0	0	8.12818e-05	0	0
LPHN2	23266	broad.mit.edu	37	1	82372860	82372860	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:82372860C>T	uc001dit.4	+	3	413	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	LPHN2_uc001dis.3_Nonsense_Mutation_p.Q78*|LPHN2_uc001diu.3_Nonsense_Mutation_p.Q78*|LPHN2_uc001div.3_Nonsense_Mutation_p.Q78*|LPHN2_uc009wcd.3_Nonsense_Mutation_p.Q78*	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	78	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGACCCATTTCAGATGGAGAA	0.423000														51			6		0	0	0.000442599	0	0
HPGD	3248	broad.mit.edu	37	4	175443155	175443155	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:175443155A>C	uc003itu.2	-	1	347	c.157T>G	c.(157-159)Ttt>Gtt	p.F53V	HPGD_uc003itv.2_Missense_Mutation_p.F53V|HPGD_uc011ckf.1_5'UTR|HPGD_uc010irq.2_Missense_Mutation_p.F53V|HPGD_uc011ckg.1_Missense_Mutation_p.F53V|HPGD_uc011ckh.1_5'UTR	NM_000860	NP_000851	P15428	PGDH_HUMAN	Homo sapiens hydroxyprostaglandin dehydrogenase 15-(NAD) (HPGD), transcript variant 1, mRNA.	53					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	p.Q52Q(1)		kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	TGAGGTTCAAACTGCTCATCC	0.522000														89			24		0	0	0.000878237	0	0
ERC2	26059	broad.mit.edu	37	3	56330067	56330067	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:56330067C>T	uc021wzo.1	-	1	1194	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	ERC2_uc003dhr.1_Missense_Mutation_p.E352K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	352						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTATGTTTTCCTTCTCTTTC	0.413000														47			28		0	0	0.000720815	0	0
FRMPD2	143162	broad.mit.edu	37	10	49457098	49457098	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:49457098C>T	uc001jgi.3	-	2	606	c.275G>A	c.(274-276)gGa>gAa	p.G92E	FRMPD2_uc001jgh.3_Missense_Mutation_p.G83E|FRMPD2_uc001jgj.3_Missense_Mutation_p.G83E	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	92	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTCACTCTGTCCCTGTAGCAG	0.562000														19			15		0	0	0.000566183	0	0
ITGAX	3687	broad.mit.edu	37	16	31382970	31382970	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:31382970G>A	uc002ebt.3	+	16	2092	c.2025G>A	c.(2023-2025)gtG>gtA	p.V675V	ITGAX_uc002ebu.1_Silent_p.V675V	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	675					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AAAGCTCTGTGACCTTGGACC	0.637000														34			26		0	0	0.001512	0	0
HAP1	9001	broad.mit.edu	37	17	39881157	39881157	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:39881157C>T	uc002hxm.1	-	11	1824	c.1812G>A	c.(1810-1812)cgG>cgA	p.R604R	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.R552R|HAP1_uc002hxo.1_Silent_p.R535R|HAP1_uc002hxp.1_Silent_p.R527R	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	604					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCACGTTCATCCGCGTTGCCT	0.617000														86			65		0	0	0.000781405	0	0
TEX26	122046	broad.mit.edu	37	13	31531145	31531145	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:31531145G>A	uc001uti.3	+	3	467	c.448G>A	c.(448-450)Gac>Aac	p.D150N		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	150								p.D150N(1)									TACTAAGAGAGACTTTGTGGA	0.438000														47			40		0	0	0.000680045	0	0
ERN1	2081	broad.mit.edu	37	17	62121413	62121413	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:62121413A>T	uc002jdz.2	-	21	2982	c.2869T>A	c.(2869-2871)Ttc>Atc	p.F957I	DQ572107_uc002jdy.1_5'Flank	NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	957	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TAGGGCTGGAAGAGTCTCTCG	0.657000														71			24		0	0	0.000586117	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555107	178555107	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:178555107C>T	uc003mjw.3	-	16	2572	c.2470G>A	c.(2470-2472)Gga>Aga	p.G824R		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	824	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G824V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGGTGTCTCCCACCGGGATG	0.577000														16			9		0	0	0.000442599	0	0
CD2AP	23607	broad.mit.edu	37	6	47501378	47501378	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:47501378C>T	uc003oyw.3	+	2	662	c.206C>T	c.(205-207)cCc>cTc	p.P69L		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	69	Interaction with ANLN and localization to the midbody.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GACAGTTTGCCCATCAAACGG	0.378000														25			33		0	0	0.000814825	0	0
ITGA2	3673	broad.mit.edu	37	5	52369055	52369055	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:52369055C>T	uc003joy.3	+	19	2680	c.2537C>T	c.(2536-2538)tCa>tTa	p.S846L	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.S770L|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Intron	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	846					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTTGATTTTTCAGAAAACTTG	0.373000														115			51		0	0	0.000781405	0	0
SCIN	85477	broad.mit.edu	37	7	12683911	12683911	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:12683911C>T	uc003ssn.4	+	11	1940	c.1730C>T	c.(1729-1731)aCc>aTc	p.T577I	SCIN_uc010ktt.3_Intron|SCIN_uc003sso.4_Missense_Mutation_p.T330I	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	577	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AAGTGCAAAACCTTAAGGATC	0.458000														10			5		0	0	0.000602214	0	0
SPTBN5	51332	broad.mit.edu	37	15	42164597	42164597	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:42164597G>C	uc001zos.3	-	26	5296	c.4963C>G	c.(4963-4965)Caa>Gaa	p.Q1655E		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1690					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GTGAGGGTTTGGGCCGTCTGG	0.632000														4			5		0	0	0.00116845	0	0
DOCK1	1793	broad.mit.edu	37	10	129141980	129141980	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:129141980C>T	uc010qun.2	+	30	3258	c.3194C>T	c.(3193-3195)tCa>tTa	p.S1065L	DOCK1_uc001ljt.3_Missense_Mutation_p.S1044L|DOCK1_uc009yaq.3_Missense_Mutation_p.S39L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1044					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GAGAATTTTTCAAGTGCCAAG	0.428000														8			7		0	0	0.000274275	0	0
CFHR5	81494	broad.mit.edu	37	1	196971796	196971796	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:196971796T>C	uc001gts.4	+	8	1458	c.1330_splice	c.e8+2	p.E444_splice		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	444	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GCTGTGTTGGTTAGTAGTTTA	0.323000														45			6		0	0	0.000157383	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183336	200183336	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:200183336C>T	uc009wzi.1	+	0	681	c.645C>T	c.(643-645)gtC>gtT	p.V215V		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	215					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						CCGCCGAGGTCGAGGCTGAGA	0.557000														16			23		0	0	0.000586117	0	0
DNAH9	1770	broad.mit.edu	37	17	11738075	11738075	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:11738075G>A	uc002gne.3	+	48	9435	c.9367G>A	c.(9367-9369)Gcc>Acc	p.A3123T	DNAH9_uc010coo.3_Missense_Mutation_p.A2417T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3123	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGAGAGAAAGCCATGGCAGA	0.527000														16			7		0	0	8.12818e-05	0	0
CCT5	22948	broad.mit.edu	37	5	10254948	10254948	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:10254948T>C	uc003jeq.3	+	2	500	c.329T>C	c.(328-330)gTt>gCt	p.V110A	CCT5_uc011cmq.2_Intron|CCT5_uc011cmr.2_Intron|CCT5_uc011cms.2_Missense_Mutation_p.V72A|CCT5_uc011cmt.2_Intron	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	110					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ACAGGAGTGGTTGGTAAGAAA	0.423000														34			21		0	0	0.000295444	0	0
DOCK2	1794	broad.mit.edu	37	5	169097555	169097555	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:169097555C>T	uc003maf.3	+	3	258	c.178C>T	c.(178-180)Cct>Tct	p.P60S	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	60	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCATTTTTCCTAAGTCATT	0.358000														62			30		0	0	0.000339439	0	0
OR10X1	128367	broad.mit.edu	37	1	158549393	158549393	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:158549393T>A	uc010pin.2	-	0	297	c.297A>T	c.(295-297)gaA>gaT	p.E99D		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CCAGTAGATCTTCCAGCATCT	0.498000														20			52		0	0	0.000781405	0	0
RARRES3	5920	broad.mit.edu	37	11	63312103	63312103	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:63312103C>T	uc001nxf.4	+	2	197	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	43					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	p.P43P(4)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GTGAGTACCCCGGGGCTGGCT	0.557000														142			8		0	0	0.000274275	0	0
WNK3	65267	broad.mit.edu	37	X	54263451	54263451	+	Silent	SNP	T	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:54263451T>C	uc004dtc.2	-	19	4987	c.4548A>G	c.(4546-4548)ccA>ccG	p.P1516P	WNK3_uc004dtd.2_Silent_p.P1469P	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1469					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTGGGGAAGATGGCGAATAGA	0.428000														139			68		0	0	0.000781405	0	0
SCN2A	6326	broad.mit.edu	37	2	166188001	166188001	+	Silent	SNP	T	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:166188001T>C	uc002udc.3	+	13	2601	c.2311T>C	c.(2311-2313)Tta>Cta	p.L771L	SCN2A_uc002udd.3_Silent_p.L771L|SCN2A_uc002ude.3_Silent_p.L771L	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	771					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CTGCATTGTCTTAAATACACT	0.458000														41			26		0	0	0.00106085	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481796	140481796	+	Nonsense_Mutation	SNP	C	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:140481796C>G	uc003lio.3	+	0	1563	c.1563C>G	c.(1561-1563)taC>taG	p.Y521*	BC016751_uc003lin.3_Splice_Site	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	521	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGACTACGAGGCCCTGC	0.692000														28			17		0	0	0.000958276	0	0
OR5D16	390144	broad.mit.edu	37	11	55606288	55606288	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:55606288G>A	uc010rio.2	+	0	61	c.61G>A	c.(61-63)Gat>Aat	p.D21N		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGGCTTCTCAGATTACCTGGA	0.413000														45			33		0	0	0.00058488	0	0
DEFB129	140881	broad.mit.edu	37	20	207945	207945	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:207945C>T	uc002wda.3	+	0	47	c.16C>T	c.(16-18)Cct>Tct	p.P6S		NM_080831	NP_543021	Q9H1M3	DB129_HUMAN	Homo sapiens defensin, beta 129 (DEFB129), mRNA.	6					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCTCCTTTTTCCTATCTTTGC	0.498000														72			46		0	0	0.000781405	0	0
ODZ1	10178	broad.mit.edu	37	X	123518112	123518112	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:123518112G>A	uc010nqy.3	-	29	6733	c.6669C>T	c.(6667-6669)ggC>ggT	p.G2223G	ODZ1_uc011muj.2_Silent_p.G2222G|ODZ1_uc004euj.3_Silent_p.G2216G	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2216					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GCCTCAGAAAGCCATCTTCAT	0.438000														53			42		0	0	0.00195071	0	0
OTOGL	283310	broad.mit.edu	37	12	80735762	80735762	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:80735762G>A	uc001szd.3	+	42	5064	c.5058G>A	c.(5056-5058)agG>agA	p.R1686R		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATGATCTAAGGATGCAAAATG	0.318000														7			4		0	0	0.00024832	0	0
EPHX2	2053	broad.mit.edu	37	8	27364508	27364508	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:27364508C>T	uc003xfu.3	+	4	738	c.657C>T	c.(655-657)atC>atT	p.I219I	EPHX2_uc010lut.1_Silent_p.I219I|EPHX2_uc010luv.3_Silent_p.I153I|EPHX2_uc003xfv.3_Silent_p.I166I|EPHX2_uc010luw.3_Silent_p.I153I|EPHX2_uc011lam.1_Silent_p.I75I	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	219	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TGACCGGAATCCAGGTAACTT	0.547000														10			9		0	0	0.000274275	0	0
EPHB2	2048	broad.mit.edu	37	1	23232557	23232557	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:23232557G>A	uc009vqj.1	+	9	1988	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	EPHB2_uc001bge.3_Missense_Mutation_p.E616K|EPHB2_uc001bgf.3_Missense_Mutation_p.E615K|EPHB2_uc010odu.2_Missense_Mutation_p.E557K	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	615					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.E615K(4)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTTTGCCAAGGAAATTGACAT	0.537000														15			20		0	0	0.000295444	0	0
GPR115	221393	broad.mit.edu	37	6	47675989	47675989	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:47675989G>A	uc003oyz.1	+	3	294	c.294G>A	c.(292-294)ggG>ggA	p.G98G	GPR115_uc003oza.1_Silent_p.G41G|GPR115_uc003ozb.1_Silent_p.G41G	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	41					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCCCTGAAGGGAAACCCAAGA	0.453000														36			5		0	0	8.12818e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9086595	9086595	+	Silent	SNP	A	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:9086595A>G	uc002mkp.3	-	0	5424	c.5220T>C	c.(5218-5220)gcT>gcC	p.A1740A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1740	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTTCCTTCAGCATAGCTGG	0.498000														45			26		0	0	0.000720815	0	0
CIC	23152	broad.mit.edu	37	19	42795145	42795145	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:42795145C>T	uc002otf.1	+	9	2265	c.2225C>T	c.(2224-2226)cCa>cTa	p.P742L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	742	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCACCAGCCCCACACTTGGTG	0.662000			"""Mis, F, S"""		oligodendroglioma									16			6		0	0	8.12818e-05	0	0
PDHA1	5160	broad.mit.edu	37	X	19373555	19373555	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:19373555C>T	uc004czg.4	+	6	837	c.692C>T	c.(691-693)aCg>aTg	p.T231M	PDHA1_uc004czh.4_Missense_Mutation_p.T269M|PDHA1_uc011mjc.2_Missense_Mutation_p.T238M|PDHA1_uc011mjd.2_Missense_Mutation_p.T200M|PDHA1_uc010nfl.3_Missense_Mutation_p.T22M	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	231			T -> A (in PDHE1 deficiency).		glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GGAATGGGAACGTCTGTTGAG	0.493000														108			46		0	0	0.000509022	0	0
MYH8	4626	broad.mit.edu	37	17	10297626	10297626	+	Silent	SNP	C	T	T	rs140525529		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:10297626C>T	uc002gmm.2	-	34	5201	c.5106G>A	c.(5104-5106)agG>agA	p.R1702R	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1702					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1702R(2)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGGCGATTTTCCTGCTTCTCT	0.567000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					43			18		0	0	0.000375601	0	0
LRBA	987	broad.mit.edu	37	4	151749573	151749573	+	Missense_Mutation	SNP	G	A	A	rs149324157	byFrequency	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:151749573G>A	uc010ipj.3	-	29	5174	c.4930C>T	c.(4930-4932)Ctt>Ttt	p.L1644F	LRBA_uc003ilt.4_Missense_Mutation_p.L303F|LRBA_uc003ilu.4_Missense_Mutation_p.L1644F	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1644						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCTAAAGAAAGAGTAGATAGC	0.453000														62			13		0	0	0.00136819	0	0
FCN1	2219	broad.mit.edu	37	9	137801707	137801707	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:137801707C>G	uc004cfi.3	-	8	1007	c.918G>C	c.(916-918)tgG>tgC	p.W306C		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	306	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCGCCGCACTCCAGTTGATAC	0.562000														47			29		0	0	0.000878237	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554261	140554261	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:140554261C>T	uc003lit.3	+	0	2019	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	615	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGCTATTCGGCGTGTGGG	0.682000														38			27		0	0	0.00178596	0	0
LAMA1	284217	broad.mit.edu	37	18	6978196	6978196	+	Splice_Site	SNP	G	A	A	rs144466305		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:6978196G>A	uc002knm.3	-	43	6284	c.6190_splice	c.e43+1	p.T2064_splice	LAMA1_uc010wzj.2_Splice_Site_p.T1540_splice	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2064	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGACATACTGGCCATGGTGG	0.552000														60			34		0	0	0.000692331	0	0
VPS13D	55187	broad.mit.edu	37	1	12364652	12364652	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:12364652C>T	uc001atv.3	+	25	6447	c.6306C>T	c.(6304-6306)tcC>tcT	p.S2102S	VPS13D_uc001atw.3_Silent_p.S2102S|VPS13D_uc001atx.3_Silent_p.S1290S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2102					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAACCCATTCCCAGGGGCAGT	0.567000														11			15		0	0	0.000219431	0	0
ZNF283	284349	broad.mit.edu	37	19	44339683	44339683	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:44339683C>T	uc002oxr.4	+	4	417	c.149C>T	c.(148-150)tCa>tTa	p.S50L	ZNF283_uc002oxp.4_5'UTR	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TTCTGTGCTTCACCAATAGAG	0.418000														13			8		0	0	0.000157383	0	0
SHD	56961	broad.mit.edu	37	19	4280318	4280318	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:4280318G>A	uc002lzw.2	+	0	1721	c.258G>A	c.(256-258)atG>atA	p.M86I		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	86										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGGATATGGCCAGAGCCA	0.687000														2			3		0	0	6.4e-05	0	0
SLC6A14	11254	broad.mit.edu	37	X	115568959	115568959	+	Splice_Site	SNP	A	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:115568959A>G	uc004eqi.3	+	2	180	c.49_splice	c.e2-1	p.K17_splice	SLC6A14_uc011mtm.2_Splice_Site	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	17					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CTTCCCCAGAAAGTGTCGGCT	0.383000														215			97		0	0	0.000781405	0	0
KIAA0090	23065	broad.mit.edu	37	1	19546091	19546091	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:19546091G>A	uc001bbo.3	-	21	2817	c.2774C>T	c.(2773-2775)gCt>gTt	p.A925V	KIAA0090_uc001bbn.3_Non-coding_Transcript|KIAA0090_uc001bbp.3_Missense_Mutation_p.A924V|KIAA0090_uc001bbq.3_Missense_Mutation_p.A924V|KIAA0090_uc001bbr.3_Missense_Mutation_p.A903V	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	925	DUF1620.					integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		ACCCGAGGGAGCTGTGTAGAT	0.463000														19			23		0	0	0.000375601	0	0
PIGH	5283	broad.mit.edu	37	14	68059435	68059435	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:68059435G>A	uc001xjr.1	-	3	488	c.391_splice	c.e3-1	p.Q131_splice		NM_004569	NP_004560	Q14442	PIGH_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class H (PIGH), mRNA.	131					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus	phosphatidylinositol N-acetylglucosaminyltransferase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		ATCACCTTCTGCTGTAAGAAA	0.348000														27			19		0	0	0.00074312	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623672	46623672	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:46623672C>T	uc003oyh.3	+	1	477	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	SLC25A27_uc011dwb.2_Missense_Mutation_p.P67S|SLC25A27_uc003oyg.3_Missense_Mutation_p.P67S|SLC25A27_uc011dwc.2_5'UTR|SLC25A27_uc003oyi.3_5'Flank	NM_004277	NP_004268	O95847	UCP4_HUMAN	Homo sapiens solute carrier family 25, member 27 (SLC25A27), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	67					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		p.A66A(1)		central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			AGAATCTGCCCCCTATAGGGG	0.507000														71			112		0	0	0.000781405	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435464	7435464	+	Silent	SNP	G	A	A	rs139203507	by1000genomes	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:7435464G>A	uc011bwj.2	-	0	1237	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	381					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GGGACGGCACGATGGCATAGG	0.607000														31			7		0	0	8.12818e-05	0	0
RB1	5925	broad.mit.edu	37	13	48953779	48953779	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:48953779T>C	uc001vcb.3	+	13	1548	c.1382T>C	c.(1381-1383)cTt>cCt	p.L461P		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	461	Domain A.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAATCCATGCTTAAATCAGTA	0.418000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				19			22		0	0	0.000720815	0	0
RASGRP3	25780	broad.mit.edu	37	2	33749069	33749069	+	Missense_Mutation	SNP	A	G	G	rs35406835		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:33749069A>G	uc002rox.3	+	8	1267	c.640A>G	c.(640-642)Acc>Gcc	p.T214A	RASGRP3_uc010ync.2_Missense_Mutation_p.T214A|RASGRP3_uc002roy.3_Missense_Mutation_p.T214A	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	214	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TAGCAAACCAACCCCCCAGCA	0.428000														89			69		0	0	0.000781405	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73076882	73076882	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:73076882C>T	uc001otu.3	+	19	5906	c.5885C>T	c.(5884-5886)cCc>cTc	p.P1962L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1962					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCACTCAGTCCCACAGGCCTC	0.662000														20			6		0	0	0.00116845	0	0
SLC24A3	57419	broad.mit.edu	37	20	19565664	19565664	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:19565664G>A	uc002wrl.3	+	4	670	c.473G>A	c.(472-474)gGa>gAa	p.G158E		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	158						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGGCAGCGGGAAGTTCGGCC	0.547000														30			16		0	0	0.000566183	0	0
RIMS1	22999	broad.mit.edu	37	6	73108683	73108683	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:73108683G>A	uc003pga.3	+	32	4824	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K	RIMS1_uc011dyb.2_Missense_Mutation_p.E980K|RIMS1_uc003pgc.3_Missense_Mutation_p.E998K|RIMS1_uc010kaq.3_Missense_Mutation_p.E903K|RIMS1_uc011dyc.2_Missense_Mutation_p.E708K|RIMS1_uc010kar.3_Missense_Mutation_p.E651K|RIMS1_uc011dyd.2_Missense_Mutation_p.E717K|RIMS1_uc003pge.3_Missense_Mutation_p.E623K|RIMS1_uc003pgf.3_Missense_Mutation_p.E583K|RIMS1_uc003pgi.3_Missense_Mutation_p.E399K|RIMS1_uc003pgg.3_Missense_Mutation_p.E479K|RIMS1_uc003pgh.3_Missense_Mutation_p.E450K|RIMS1_uc003pgd.3_Missense_Mutation_p.E649K|RIMS1_uc011dye.2_Missense_Mutation_p.E389K|RIMS1_uc011dyf.2_Missense_Mutation_p.E207K|RIMS1_uc011dyg.2_Missense_Mutation_p.E110K	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1583	C2 2.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.E1583G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATATCTTTTGGAAAATGGGGC	0.333000														51			9		0	0	0.000442599	0	0
PNMA3	29944	broad.mit.edu	37	X	152226735	152226735	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:152226735G>A	uc022cho.1	+	0	1323	c.1323G>A	c.(1321-1323)caG>caA	p.Q441Q	PNMA3_uc004fhc.2_Silent_p.Q441Q|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	441					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGAAACAGGCTGCAGTTG	0.547000														51			32		0	0	0.000692331	0	0
TG	7038	broad.mit.edu	37	8	133909963	133909963	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:133909963C>T	uc003ytw.3	+	11	3112	c.3071C>T	c.(3070-3072)tCg>tTg	p.S1024L	TG_uc010mdw.3_5'UTR	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1024	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCTGCGGTCGGGCCCCTAC	0.582000														60			17		0	0	0.00074312	0	0
PRDX6	9588	broad.mit.edu	37	1	173446598	173446598	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:173446598G>A	uc001giy.1	+	0	113	c.62G>A	c.(61-63)gGc>gAc	p.G21D	LOC100506023_uc001gix.1_5'Flank	NM_004905	NP_004896	P30041	PRDX6_HUMAN	Homo sapiens peroxiredoxin 6 (PRDX6), mRNA.	21	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						ACCACCGTCGGCCGCATCCGT	0.652000														29			4		0	0	0.000602214	0	0
DARS2	55157	broad.mit.edu	37	1	173799875	173799876	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:173799875_173799876CC>TT	uc001gjh.2	+	3	943_944	c.372_373CC>TT	c.(370-375)tcccgt>tcTTgt	p.R125C		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	Homo sapiens aspartyl-tRNA synthetase 2, mitochondrial (DARS2), nuclear gene encoding mitochondrial protein, mRNA.	125					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	ATP binding|aspartate-tRNA ligase activity|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CAGTCATTTCCCGTCCTGCAGG	0.455000														112			10		0	0	6.4e-05	0	0
DENND3	22898	broad.mit.edu	37	8	142199114	142199114	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:142199114G>A	uc003yvy.3	+	18	3152	c.2874G>A	c.(2872-2874)caG>caA	p.Q958Q	DENND3_uc010mep.3_Silent_p.Q919Q|DENND3_uc003ywa.1_Silent_p.Q8Q|DENND3_uc003ywb.3_Silent_p.Q8Q	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	958										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAGAACCAGGTGTGGGTTG	0.512000														26			8		0	0	0.000978159	0	0
CFB	629	broad.mit.edu	37	6	31903828	31903828	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:31903828C>T	uc003nyf.3	+	6	1242	c.978C>T	c.(976-978)gcC>gcT	p.A326A	CFB_uc003nyc.2_Silent_p.A113A|CFB_uc011doo.2_Silent_p.A80A|CFB_uc011dop.2_Intron|CFB_uc010jtk.3_Silent_p.A194A|CFB_uc011doq.2_Silent_p.A297A|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	342	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGGAAAATGCCAACTATAAAG	0.483000														248			62		0	0	0.000781405	0	0
FUT9	10690	broad.mit.edu	37	6	96651110	96651110	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:96651110C>T	uc003pop.4	+	2	420	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F	FUT9_uc021zcw.1_Missense_Mutation_p.L27F	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	27					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGCATGTCTTCTCATTTACAT	0.383000														27			34		0	0	0.000491102	0	0
HKR1	284459	broad.mit.edu	37	19	37854094	37854094	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:37854094T>C	uc002ogb.3	+	5	1666	c.1397T>C	c.(1396-1398)gTt>gCt	p.V466A	HKR1_uc002ofx.3_Missense_Mutation_p.V182A|HKR1_uc002ofy.3_Missense_Mutation_p.V182A|HKR1_uc002oga.3_Missense_Mutation_p.V448A|HKR1_uc010xto.2_Missense_Mutation_p.V448A|HKR1_uc002ogc.3_Missense_Mutation_p.V447A|HKR1_uc010xtp.2_Missense_Mutation_p.V405A|HKR1_uc002ogd.3_Missense_Mutation_p.V405A	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	466					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTCAGGGGTTAAACCTTAT	0.488000														30			15		0	0	0.000422831	0	0
RGS11	8786	broad.mit.edu	37	16	321436	321436	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:321436C>T	uc002cgj.1	-	10	714	c.711G>A	c.(709-711)ctG>ctA	p.L237L	LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Silent_p.L216L|RGS11_uc010bqs.1_Silent_p.L226L|RGS11_uc002cgk.1_Silent_p.L53L	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	237	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGGTCCTGCCCAGCGCTTTCC	0.647000														12			5		0	0	0.000602214	0	0
RASSF9	9182	broad.mit.edu	37	12	86198973	86198973	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:86198973C>T	uc001taf.1	-	1	1154	c.815G>A	c.(814-816)cGa>cAa	p.R272Q		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	272					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	p.R272*(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATATTTCAGTCGTTCTTCCAG	0.393000														83			36		0	0	0.000953801	0	0
LRBA	987	broad.mit.edu	37	4	151199140	151199140	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:151199140C>T	uc010ipj.3	-	56	8610	c.8366G>A	c.(8365-8367)cGa>cAa	p.R2789Q	LRBA_uc010ipi.3_Missense_Mutation_p.R311Q|LRBA_uc003ils.4_Missense_Mutation_p.R684Q|LRBA_uc003ilt.4_Missense_Mutation_p.R1437Q|LRBA_uc003ilu.4_Missense_Mutation_p.R2777Q|LRBA_uc003ilr.4_Missense_Mutation_p.R209Q	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2789						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGCCCATCTCGGCTCAGCTG	0.542000														18			11		0	0	0.00136819	0	0
COL21A1	81578	broad.mit.edu	37	6	56035800	56035800	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:56035800C>T	uc003pcs.3	-	3	999	c.767G>A	c.(766-768)gGa>gAa	p.G256E	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G256E|COL21A1_uc003pcu.1_Missense_Mutation_p.G256E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	256	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACTTCATATCCTTTTATCTT	0.338000														76			21		0	0	0.00188189	0	0
RALGDS	5900	broad.mit.edu	37	9	135977952	135977952	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:135977952G>A	uc004cco.3	-	13	1940	c.1920C>T	c.(1918-1920)aaC>aaT	p.N640N	RALGDS_uc004ccn.3_5'Flank|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Silent_p.N628N|RALGDS_uc004ccr.3_Silent_p.N639N|RALGDS_uc011mcv.2_Silent_p.N611N|RALGDS_uc004ccs.3_Silent_p.N585N|RALGDS_uc011mcw.2_Silent_p.N711N|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_Silent_p.N409N|RALGDS_uc004ccu.1_Silent_p.N409N	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	640	Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CGCACGACAGGTTGTAGCTAT	0.642000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									35			24		0	0	0.000720815	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416244	57416244	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:57416244C>T	uc002eli.3	+	2	561	c.494C>T	c.(493-495)tCa>tTa	p.S165L		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	165	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						ACTGGTTCCTCAGGGACCAGG	0.672000														13			16		0	0	0.00074312	0	0
LY9	4063	broad.mit.edu	37	1	160769865	160769865	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:160769865C>T	uc001fwu.3	+	1	497	c.447C>T	c.(445-447)ttC>ttT	p.F149F	LY9_uc001fwt.3_Silent_p.F149F|LY9_uc010pjs.1_Silent_p.F149F|LY9_uc001fwv.3_Silent_p.F149F|LY9_uc001fww.3_Silent_p.F149F|LY9_uc001fwy.1_Silent_p.F51F	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	149	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCACCCTGTTCGTCTATGGTG	0.373000														36			65		0	0	0.000781405	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832982	34832983	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:34832982_34832983CC>TA	uc002nvd.4	+	9	3002_3003	c.2143_2144CC>TA	c.(2143-2145)ccg>TAg	p.P715*		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	715										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GACACCCCAGCCGGGACTGGCA	0.649000														46			25		0	0	6.4e-05	0	0
IPO4	79711	broad.mit.edu	37	14	24655589	24655589	+	Silent	SNP	G	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:24655589G>T	uc001wmv.1	-	9	1930	c.909C>A	c.(907-909)ccC>ccA	p.P303P	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.P167P|IPO4_uc001wmy.1_Silent_p.P167P|IPO4_uc001wmz.2_Silent_p.P303P	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	303					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GGCCTGGTGGGGGCTCAGCAG	0.547000														114			7		0.000274275	0.00229092	0.000274275	1	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150416143	150416143	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:150416143G>A	uc003whq.3	+	1	148	c.8G>A	c.(7-9)gGa>gAa	p.G3E	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.G3E	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		AGCATGGGAGGAAGGAAGATG	0.413000														39			28		0	0	0.00058488	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905766	144905766	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:144905766C>T	uc022cfn.1	+	0	1823	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	SLITRK2_uc004fcd.3_Missense_Mutation_p.S608F|SLITRK2_uc010nsp.3_Missense_Mutation_p.S608F|SLITRK2_uc010nso.3_Missense_Mutation_p.S608F|SLITRK2_uc011mwq.2_Missense_Mutation_p.S608F|SLITRK2_uc011mwr.2_Missense_Mutation_p.S608F|SLITRK2_uc011mws.2_Missense_Mutation_p.S608F|SLITRK2_uc004fcg.3_Missense_Mutation_p.S608F|SLITRK2_uc011mwt.2_Missense_Mutation_p.S608F	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	608						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTAGTTCCTATCCTGAA	0.448000														38			17		0	0	0.000422831	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212520745	212520745	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:212520745G>A	uc001hjb.3	+	5	1335	c.761G>A	c.(760-762)gGa>gAa	p.G254E	PPP2R5A_uc010ptd.2_Missense_Mutation_p.G197E	NM_006243	NP_006234	Q15172	2A5A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA.	254					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GAAATATTAGGAAGGTAGGTC	0.269000														106			6		0	0	0.00116845	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967386	41967386	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:41967386G>A	uc010skn.2	+	9	2813	c.2805G>A	c.(2803-2805)atG>atA	p.M935I	PDZRN4_uc001rmq.4_Missense_Mutation_p.M677I|PDZRN4_uc009zjz.3_Missense_Mutation_p.M675I|PDZRN4_uc001rmr.3_Missense_Mutation_p.M562I	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	935							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGAGCGAGATGAAAATGGGGC	0.547000														27			11		0	0	0.000673444	0	0
UBE4B	10277	broad.mit.edu	37	1	10186901	10186901	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:10186901C>T	uc021ogc.1	+	11	2445	c.1757C>T	c.(1756-1758)tCc>tTc	p.S586F	UBE4B_uc001aqs.4_Missense_Mutation_p.S535F|UBE4B_uc001aqr.4_Missense_Mutation_p.S406F|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	535					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AAAGAGTGCTCCCTCGACAGT	0.323000														41			37		0	0	0.000680045	0	0
TNR	7143	broad.mit.edu	37	1	175355293	175355293	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:175355293C>T	uc001gkp.1	-	5	1733	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	TNR_uc009wwu.1_Missense_Mutation_p.R551Q	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	551	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGCAGCCGGAAGGTGGT	0.597000														28			5		0	0	0.000602214	0	0
GLCCI1	113263	broad.mit.edu	37	7	8125886	8125886	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:8125886C>T	uc003srk.3	+	7	1921	c.1362C>T	c.(1360-1362)atC>atT	p.I454I		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	454										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TTAATTTCATCCCAACCGGAT	0.438000														182			84		0	0	0.000781405	0	0
OIT3	170392	broad.mit.edu	37	10	74690333	74690334	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:74690333_74690334CG>AT	uc001jte.1	+	7	1623_1624	c.1405_1406CG>AT	c.(1405-1407)cgg>ATg	p.R469M	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	469	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GTACACATCCCGGGATCACCTA	0.436000														132			6		0	0	6.4e-05	0	0
ABCA12	26154	broad.mit.edu	37	2	215914452	215914452	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:215914452G>A	uc002vew.3	-	5	811	c.591C>T	c.(589-591)ttC>ttT	p.F197F	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	197					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGTCCAAGAGAAGGCATCAT	0.363000														22			23		0	0	0.00047179	0	0
RYR1	6261	broad.mit.edu	37	19	39023333	39023333	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:39023333G>A	uc002oit.3	+	77	11346	c.11216G>A	c.(11215-11217)gGg>gAg	p.G3739E	RYR1_uc002oiu.3_Missense_Mutation_p.G3734E|RYR1_uc002oiv.1_Missense_Mutation_p.G654E|RYR1_uc010xuf.1_Missense_Mutation_p.G659E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3739					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGGAGGGAGGGGAGAACGGT	0.602000														21			7		0	0	0.000673444	0	0
ZNF574	64763	broad.mit.edu	37	19	42583941	42583941	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:42583941C>T	uc002osk.4	+	1	1688	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S	ZNF574_uc002osm.4_Missense_Mutation_p.P395S|ZNF574_uc021uva.1_Missense_Mutation_p.P395S	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCATTCATGTCCATGTGGGAA	0.592000														34			30		0	0	0.000491102	0	0
UNC13B	10497	broad.mit.edu	37	9	35398948	35398948	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:35398948G>A	uc003zwr.3	+	31	4036	c.3744G>A	c.(3742-3744)ggG>ggA	p.G1248G	UNC13B_uc003zwq.3_Silent_p.G1248G	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1248					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGCACAGGGAATGCATCTC	0.572000														13			17		0	0	0.00074312	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:20248603G>A	uc010tku.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(2)|p.P40T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000														230			82		0	0	0.000781405	0	0
DIO3	1735	broad.mit.edu	37	14	102027999	102027999	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:102027999G>T	uc021sdx.1	+	0	312	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	30					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCTCGGCACGGCCTTCATGCT	0.657000														38			20		2.65835e-16	2.27045e-15	0.00127121	1	0
LIG1	3978	broad.mit.edu	37	19	48634356	48634357	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:48634356_48634357CC>TT	uc002pia.1	-	18	1917_1918	c.1797_1798GG>AA	c.(1795-1800)ccggac>ccAAac	p.D600N	LIG1_uc010xze.1_Missense_Mutation_p.D293N|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.D532N|LIG1_uc010xzg.1_Missense_Mutation_p.D569N	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	600					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTGATGATGTCCGGGTACTTCC	0.594000								Nucleotide excision repair (NER)						23			15		0	0	6.4e-05	0	0
PSD2	84249	broad.mit.edu	37	5	139217314	139217314	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:139217314C>T	uc003leu.1	+	11	1975	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	590	PH.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGAAGTCCAACGTGCTGA	0.592000														15			15		0	0	0.000308642	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986063	31986063	+	Missense_Mutation	SNP	C	T	T	rs28567421	byFrequency	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr21:31986063C>T	uc002yop.3	-	0	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	54						cytosol|intermediate filament		p.R54C(1)|p.S53C(1)		breast(2)|endometrium(1)|lung(7)	10						ACAGAGGGAGCGGGAGCCATA	0.587000														53			23		0	0	0.00106085	0	0
KCNH5	27133	broad.mit.edu	37	14	63417257	63417257	+	Silent	SNP	A	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:63417257A>G	uc001xfx.3	-	6	1014	c.963T>C	c.(961-963)agT>agC	p.S321S	KCNH5_uc001xfy.3_Silent_p.S321S|KCNH5_uc001xfz.1_Silent_p.S263S|KCNH5_uc001xga.3_Silent_p.S263S	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	321					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTTTAAAGAACTGAAGAGAC	0.433000														25			13		0	0	0.000566183	0	0
TMEM63C	57156	broad.mit.edu	37	14	77706030	77706031	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:77706030_77706031CC>TT	uc001xtf.2	+	11	1103_1104	c.891_892CC>TT	c.(889-894)gcccgc>gcTTgc	p.R298C	TMEM63C_uc010asq.1_Missense_Mutation_p.R298C	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	298						integral to membrane		p.R298P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ACCCCTGTGCCCGCCTGTGCTT	0.624000														7			4		0	0	6.4e-05	0	0
COL22A1	169044	broad.mit.edu	37	8	139809090	139809090	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:139809090G>A	uc003yvd.3	-	11	2015	c.1568C>T	c.(1567-1569)cCt>cTt	p.P523L		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	523	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGCCAAAAGGTCCTATGCC	0.463000										HNSCC(7;0.00092)				98			160		0	0	0.000781405	0	0
TCRA	0	broad.mit.edu	37	14	22293674	22293674	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:22293674G>A	uc001wbw.2	+	0	12	c.3G>A	c.(1-3)atG>atA	p.M1I	TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript					SubName: Full=Alpha-chain C region; Flags: Fragment;																		GAATAAAAATGAAAAAGCATC	0.353000														74			46		0	0	0.000781405	0	0
DSC1	1823	broad.mit.edu	37	18	28722082	28722082	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:28722082C>T	uc002kwn.3	-	8	1402	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	DSC1_uc002kwm.3_Silent_p.Q380Q	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	380	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.D379N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTGGCAAATCCTGATCCTGTA	0.343000														53			28		0	0	0.001512	0	0
NFIC	4782	broad.mit.edu	37	19	3434310	3434310	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:3434310C>T	uc010xhi.2	+	4	815	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	NFIC_uc002lxo.3_Silent_p.L240L|NFIC_uc010xhh.2_Silent_p.L240L|NFIC_uc010xhj.2_Silent_p.L249L|NFIC_uc002lxp.3_Silent_p.L249L	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	249					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CAACTTCTCCCTGGGGGAGCT	0.617000														28			10		0	0	0.00136819	0	0
FAM9A	171482	broad.mit.edu	37	X	8767100	8767100	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:8767100T>C	uc022bsk.1	-	2	263	c.127A>G	c.(127-129)Acc>Gcc	p.T43A	FAM9A_uc004csg.3_Missense_Mutation_p.T43A	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN	Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.	43						nucleolus		p.T43I(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				GGCTCCATGGTTGGCTGTCCT	0.542000														6			18		0	0	0.000958276	0	0
GRID1	2894	broad.mit.edu	37	10	87362307	87362307	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:87362307C>T	uc001kdl.1	-	15	2854	c.2753G>A	c.(2752-2754)cGg>cAg	p.R918Q	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.R489Q|LOC100507470_uc001kdk.2_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	918						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGGTACTCCCGTGTCGGCTC	0.617000										Multiple Myeloma(13;0.14)				15			6		0	0	0.00116845	0	0
TIAM2	26230	broad.mit.edu	37	6	155569309	155569309	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:155569309G>A	uc003qqb.3	+	21	5101	c.3828G>A	c.(3826-3828)ctG>ctA	p.L1276L	TIAM2_uc003qqe.3_Silent_p.L1276L|TIAM2_uc010kjj.3_Silent_p.L809L|TIAM2_uc003qqf.3_Silent_p.L652L|TIAM2_uc011efl.1_Silent_p.L612L|TIAM2_uc003qqg.3_Silent_p.L588L|TIAM2_uc003qqh.3_Silent_p.L201L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1276	DH.				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			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)		ACTACCACCTGACGGGTGAGG	0.692000											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			20		0	0	0.000720815	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083709	42083709	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:42083709G>A	uc002ore.4	+	1	318	c.222G>A	c.(220-222)gaG>gaA	p.E74E	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Silent_p.E74E	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	74						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AAACGGTGGAGCCCAACCAGC	0.502000														27			7		0	0	0.000157383	0	0
FAM47B	170062	broad.mit.edu	37	X	34961078	34961078	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:34961078G>A	uc004ddi.2	+	0	166	c.130G>A	c.(130-132)Gac>Aac	p.D44N		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	44										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCGCCTGTGGACACCCAGAA	0.567000														15			7		0	0	0.000157383	0	0
KCNB2	9312	broad.mit.edu	37	8	73850232	73850232	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:73850232A>T	uc003xzb.3	+	2	3230	c.2642A>T	c.(2641-2643)gAa>gTa	p.E881V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	881					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGTAGTCAAGAAGGGTGCAAG	0.488000														40			45		0	0	0.000680045	0	0
RBPMS	11030	broad.mit.edu	37	8	30402095	30402095	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:30402095C>T	uc003xic.1	+	5	1147	c.482C>T	c.(481-483)gCt>gTt	p.A161V	RBPMS_uc003xid.1_Missense_Mutation_p.A161V|RBPMS_uc003xie.1_Missense_Mutation_p.A161V|RBPMS_uc003xif.1_Non-coding_Transcript|RBPMS_uc011lba.1_Missense_Mutation_p.A161V|RBPMS_uc003xib.3_Missense_Mutation_p.A161V|RBPMS_uc010lvh.1_Missense_Mutation_p.A57V	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	Homo sapiens RNA binding protein with multiple splicing (RBPMS), transcript variant 4, mRNA.	161					RNA processing|positive regulation of SMAD protein import into nucleus|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TTAGCGCCTGCTCTACCTCCT	0.542000														28			32		0	0	0.00058488	0	0
ODZ3	55714	broad.mit.edu	37	4	183714789	183714789	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:183714789G>A	uc003ivd.1	+	24	7039	c.6964G>A	c.(6964-6966)Ggg>Agg	p.G2322R		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2322					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CACTGCATATGGGGAAATCTA	0.413000														25			18		0	0	0.00074312	0	0
CROCCP3	114819	broad.mit.edu	37	1	16817192	16817192	+	RNA	SNP	A	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:16817192A>G	uc001ays.2	-	2		c.224T>C			CROCCP3_uc001ayt.2_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 3 (CROCCP3), non-coding RNA.																		CACCTTTTGTATGTCCTCACT	0.627000														4			4		0	0	0.000602214	0	0
DOCK9	23348	broad.mit.edu	37	13	99461655	99461655	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:99461655G>A	uc001vnt.2	-	47	5376	c.5321C>T	c.(5320-5322)tCg>tTg	p.S1774L	DOCK9_uc001vnw.2_Missense_Mutation_p.S1773L|DOCK9_uc021rlw.1_Missense_Mutation_p.S1773L|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.S1751L|DOCK9_uc001vnq.2_Missense_Mutation_p.S323L|DOCK9_uc001vnr.2_Missense_Mutation_p.S417L|DOCK9_uc010tin.1_Missense_Mutation_p.S394L|DOCK9_uc001vns.2_Missense_Mutation_p.S323L|DOCK9_uc010tio.1_Missense_Mutation_p.S443L|DOCK9_uc010tip.1_Missense_Mutation_p.S484L|DOCK9_uc001vnu.1_Missense_Mutation_p.S323L|DOCK9_uc010tiq.1_Missense_Mutation_p.S729L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1774	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTGCGGCCCGAGTGCATGAC	0.552000														38			45		0	0	0.000781405	0	0
UMODL1	89766	broad.mit.edu	37	21	43508509	43508509	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr21:43508509C>T	uc002zag.1	+	4	709	c.709C>T	c.(709-711)Cca>Tca	p.P237S	UMODL1_uc002zad.1_Missense_Mutation_p.P165S|UMODL1_uc002zae.1_Missense_Mutation_p.P165S|UMODL1_uc002zaf.1_Missense_Mutation_p.P237S|UMODL1_uc010gow.1_Missense_Mutation_p.P29S|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.P29S	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	237						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTGCCACGGCCACTGCCTGT	0.637000														18			6		0	0	0.00116845	0	0
RERGL	79785	broad.mit.edu	37	12	18234137	18234137	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:18234137C>T	uc001rdq.3	-	5	800	c.606G>A	c.(604-606)agG>agA	p.R202R		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	202	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AAACAGATTTCCTTCTCTTTC	0.333000														24			15		0	0	0.000422831	0	0
DNAH3	55567	broad.mit.edu	37	16	21008662	21008662	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:21008662C>T	uc010vbe.2	-	43	6544	c.6544G>A	c.(6544-6546)Gac>Aac	p.D2182N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2182	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCAGCATGTCCACGATGTCC	0.557000														31			24		0	0	0.000720815	0	0
SMTNL1	219537	broad.mit.edu	37	11	57314011	57314011	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:57314011G>A	uc021qjh.1	+	5	1228	c.1226G>A	c.(1225-1227)aGt>aAt	p.S409N		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	409										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AGCTGGAGCAGTGGTATGGCC	0.602000														32			20		0	0	0.000720815	0	0
ATXN7	6314	broad.mit.edu	37	3	63968664	63968664	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:63968664C>T	uc003dlv.3	+	7	1615	c.1062C>T	c.(1060-1062)acC>acT	p.T354T	ATXN7_uc003dlw.4_Silent_p.T354T|ATXN7_uc021wzy.1_Silent_p.T354T|ATXN7_uc011bfn.2_Silent_p.T209T	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	354	SCA7.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ATCTCGACACCAAGAAGCCCT	0.488000														73			39		0	0	0.000781405	0	0
SAMD9	54809	broad.mit.edu	37	7	92734352	92734352	+	Silent	SNP	C	T	T	rs145911444	byFrequency	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:92734352C>T	uc003umf.3	-	2	1329	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	SAMD9_uc003umg.3_Silent_p.T353T|SAMD9_uc022ahg.1_Silent_p.T353T	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	353						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTATTTTTCGTAATGTCCT	0.318000														58			28		0	0	0.001512	0	0
FLNB	2317	broad.mit.edu	37	3	58111339	58111339	+	Silent	SNP	C	T	T	rs150901141		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:58111339C>T	uc003djj.2	+	22	4095	c.3930C>T	c.(3928-3930)gaC>gaT	p.D1310D	FLNB_uc010hne.2_Silent_p.D1310D|FLNB_uc003djk.2_Silent_p.D1310D|FLNB_uc010hnf.2_Silent_p.D1310D|FLNB_uc003djl.2_Silent_p.D1141D|FLNB_uc003djm.2_Silent_p.D1141D	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1310	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CATATGATGACGTGCCTATCC	0.463000														70			36		0	0	0.000589545	0	0
KNTC1	9735	broad.mit.edu	37	12	123098305	123098305	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:123098305C>T	uc001ucv.3	+	54	6037	c.5874C>T	c.(5872-5874)tcC>tcT	p.S1958S	KNTC1_uc010taf.2_Silent_p.S883S	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1958					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.E1957K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GCCACGAGTCCATGGTAGGTA	0.433000														16			12		0	0	0.000219431	0	0
VSTM4	196740	broad.mit.edu	37	10	50315832	50315832	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:50315832C>T	uc001jhf.2	-	1	293	c.264G>A	c.(262-264)ggG>ggA	p.G88G	VSTM4_uc001jhh.2_Silent_p.G88G	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	88	Ig-like.					integral to membrane|plasma membrane		p.G88W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGCTGAAATTCCCATAGTACT	0.627000														30			12		0	0	0.00136819	0	0
MAP4K4	9448	broad.mit.edu	37	2	102480488	102480488	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:102480488C>T	uc002tbc.3	+	16	2450	c.2072C>T	c.(2071-2073)tCa>tTa	p.S691L	MAP4K4_uc002tbf.3_Intron|MAP4K4_uc002tbd.3_Intron|MAP4K4_uc010yvy.2_Missense_Mutation_p.S606L|MAP4K4_uc002tbh.3_Intron|MAP4K4_uc002tbg.3_Intron|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.S586L|MAP4K4_uc002tbk.3_Intron|MAP4K4_uc021vlq.1_Intron|MAP4K4_uc002tbl.3_5'Flank	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	617					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R690R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGGTCTAGATCAGACAGTGAC	0.453000														25			7		0	0	8.12818e-05	0	0
GPR158	57512	broad.mit.edu	37	10	25887955	25887955	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:25887955C>T	uc001isj.3	+	10	3460	c.3400C>T	c.(3400-3402)Ctc>Ttc	p.L1134F	GPR158_uc001isk.3_Missense_Mutation_p.L509F	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1134						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAATGAAAATCTCAACCAAAT	0.463000														30			9		0	0	0.000442599	0	0
NLRP10	338322	broad.mit.edu	37	11	7982349	7982349	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:7982349C>T	uc001mfv.1	-	1	827	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	270	NACHT.						ATP binding	p.P269T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAGGCTCTCCTTGGGACTCA	0.552000														54			25		0	0	0.00106085	0	0
SOGA2	23255	broad.mit.edu	37	18	8718623	8718623	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:8718623C>T	uc002knr.2	+	2	317	c.175C>T	c.(175-177)Cga>Tga	p.R59*	SOGA2_uc002knq.2_Nonsense_Mutation_p.R59*	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	410																	TGAGCTTATTCGAAGCCTGGA	0.572000														33			16		0	0	0.00121646	0	0
ELN	2006	broad.mit.edu	37	7	73456982	73456982	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:73456982C>T	uc003tzw.3	+	5	362	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Silent_p.L91L|ELN_uc003tzy.3_Silent_p.L81L|ELN_uc003tzz.3_Silent_p.L79L|ELN_uc003tzo.3_Silent_p.L91L|ELN_uc003tzp.3_Silent_p.L81L|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.L91L|ELN_uc003tzt.3_Silent_p.L91L|ELN_uc003tzu.3_Silent_p.L91L|ELN_uc003tzv.3_Silent_p.L81L|ELN_uc011kfe.2_Intron|ELN_uc003tzx.3_Silent_p.L81L|ELN_uc011kff.2_Silent_p.L91L	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	91					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCGGGGGCTCTGGTGCCTGG	0.617000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							29			13		0	0	0.000219431	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846077	43846077	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:43846077C>T	uc010skx.2	-	14	2079	c.2079_splice	c.e14+1	p.M693_splice		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	693	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTTACTTACCATACACTGGC	0.303000														61			19		0	0	0.000586117	0	0
KCNE3	10008	broad.mit.edu	37	11	74168377	74168377	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:74168377C>T	uc021qng.1	-	0	232	c.232G>A	c.(232-234)Gga>Aga	p.G78R	KCNE3_uc001ovc.3_Missense_Mutation_p.G78R|KCNE3_uc001ovd.2_Missense_Mutation_p.G78R	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.	78						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CGGGTGTATCCCAGGATGAGG	0.517000														25			10		0	0	0.000442599	0	0
POP1	10940	broad.mit.edu	37	8	99148715	99148715	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:99148715C>T	uc003yij.4	+	7	1117	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	POP1_uc011lgv.2_Silent_p.I339I|POP1_uc003yik.3_Silent_p.I339I	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	339					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTTAGGATATCTTAGAGGAAA	0.318000														63			69		0	0	0.000781405	0	0
DCLK3	85443	broad.mit.edu	37	3	36779400	36779400	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:36779400G>A	uc003cgi.2	-	1	1242	c.751C>T	c.(751-753)Cct>Tct	p.P251S		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	251						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTGTGACAGGAAGAACTTCC	0.577000														69			38		0	0	0.00128727	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929550	94929550	+	Silent	SNP	C	T	T	rs139618805	by1000genomes	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:94929550C>T	uc001ydf.3	-	4	1349	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	SERPINA9_uc001yde.3_Silent_p.S296S|SERPINA9_uc010avc.3_Silent_p.S247S|SERPINA9_uc001ydg.3_Silent_p.S360S	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	378					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.S396S(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGCCATCCTTCGATCGGACTA	0.498000														55			24		0	0	0.00127121	0	0
GABRE	2564	broad.mit.edu	37	X	151123984	151123984	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:151123984G>A	uc004ffi.3	-	7	1047	c.993C>T	c.(991-993)ttC>ttT	p.F331F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	331					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGACACGCGGGAAATTCTTAC	0.507000														60			18		0	0	0.000958276	0	0
TTC30B	150737	broad.mit.edu	37	2	178417083	178417083	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:178417083C>T	uc002uln.3	-	0	442	c.409G>A	c.(409-411)Gag>Aag	p.E137K	TTC30B_uc010zfc.1_5'UTR	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	137					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GGCAGCTGCTCTACCAGGCTC	0.602000														62			53		0	0	0.000781405	0	0
SEC23B	10483	broad.mit.edu	37	20	18513315	18513315	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:18513315G>T	uc002wra.2	+	10	1702	c.1241G>T	c.(1240-1242)cGg>cTg	p.R414L	SEC23B_uc010zsb.2_Missense_Mutation_p.R396L|SEC23B_uc002wrb.2_Missense_Mutation_p.R414L|SEC23B_uc002wqz.2_Missense_Mutation_p.R414L|SEC23B_uc002wrc.2_Missense_Mutation_p.R414L	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	414					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TAGACCTCTCGGGAACTGAAG	0.423000														71			5		0.00116845	0.0097061	0.00116845	1	0
NFXL1	152518	broad.mit.edu	37	4	47899986	47899986	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:47899986G>A	uc010igh.3	-	8	1379	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	NFXL1_uc003gxp.3_Missense_Mutation_p.S401L|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.S401L	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	401						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AGTCTTACTTGATTTCTGACA	0.383000														25			21		0	0	0.00188189	0	0
ATRX	546	broad.mit.edu	37	X	76937757	76937757	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:76937757G>A	uc004ecp.4	-	8	3223	c.2991C>T	c.(2989-2991)gaC>gaT	p.D997D	ATRX_uc004ecq.4_Silent_p.D959D|ATRX_uc004eco.4_Silent_p.D782D|ATRX_uc004ecr.2_Silent_p.D929D|ATRX_uc010nlx.1_Silent_p.D968D|ATRX_uc010nly.1_Silent_p.D942D	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	997					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTCTTAAAGTCTGAAGGTT	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							127			45		0	0	0.000437636	0	0
COL4A1	1282	broad.mit.edu	37	13	110827011	110827011	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:110827011G>A	uc001vqw.4	-	37	3406	c.3284C>T	c.(3283-3285)tCc>tTc	p.S1095F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1095	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGGCCTGGGGACCCTGGCAT	0.532000														94			34		0	0	0.000491102	0	0
RGS12	6002	broad.mit.edu	37	4	3427272	3427273	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:3427272_3427273CC>TT	uc003ggw.3	+	13	4220_4221	c.3316_3317CC>TT	c.(3316-3318)cct>TTt	p.P1106F	RGS12_uc003ggv.3_Missense_Mutation_p.P1106F|RGS12_uc003ggy.1_Missense_Mutation_p.P504F|RGS12_uc003ggz.3_Missense_Mutation_p.P458F|RGS12_uc010icu.1_Missense_Mutation_p.P305F|RGS12_uc011bvs.2_Missense_Mutation_p.P448F|RGS12_uc003gha.3_Missense_Mutation_p.P448F|RGS12_uc010icv.3_Missense_Mutation_p.P305F|RGS12_uc003ghb.2_Missense_Mutation_p.P305F	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1106						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGAGAAGGATCCTTCCAGAGGA	0.634000														29			27		0	0	6.4e-05	0	0
CYYR1	116159	broad.mit.edu	37	21	27840930	27840930	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr21:27840930C>T	uc002yme.3	-	3	680	c.358G>A	c.(358-360)Gac>Aac	p.D120N	CYYR1_uc002ymd.3_Missense_Mutation_p.D119N|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	119						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ATCTCGTGGTCGTGACCGTAG	0.532000														34			19		0	0	0.00188189	0	0
INSL6	11172	broad.mit.edu	37	9	5164230	5164230	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:5164230C>T	uc003zix.3	-	1	341	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	109						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GACTGCATTTCCCAACTGTTT	0.318000														76			31		0	0	0.000491102	0	0
RGS8	85397	broad.mit.edu	37	1	182616005	182616005	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:182616005C>T	uc010pnw.1	-	6	666	c.408G>A	c.(406-408)caG>caA	p.Q136Q	RGS8_uc001gpn.1_Silent_p.Q136Q|RGS8_uc001gpm.1_Silent_p.Q154Q	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	136	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GGGATGGCTCCTGCAGGTTCT	0.502000														46			90		0	0	0.000781405	0	0
ZMYND15	84225	broad.mit.edu	37	17	4644070	4644070	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:4644070A>G	uc002fyu.2	+	0	257	c.227A>G	c.(226-228)gAa>gGa	p.E76G	CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.E76G|ZMYND15_uc002fyt.2_Missense_Mutation_p.E76G	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	76							zinc ion binding	p.E76*(1)		endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CAAGGGGCAGAACCAGGTCCT	0.632000														6			7		0	0	8.12818e-05	0	0
KIAA1328	57536	broad.mit.edu	37	18	34802140	34802140	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:34802140C>T	uc002kzz.3	+	9	1706	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	KIAA1328_uc002lab.3_3'UTR|KIAA1328_uc002lac.1_Missense_Mutation_p.P421S	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	562										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GCACAGAACCCCTGAAGAGTT	0.433000														5			3		0	0	6.4e-05	0	0
ASB1	51665	broad.mit.edu	37	2	239344455	239344455	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:239344455C>T	uc002vyg.3	+	2	381	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 1 (ASB1), mRNA.	99					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CTTCCTCATCCGGAAGGGGGC	0.602000														28			4		0	0	0.000602214	0	0
CR1	1378	broad.mit.edu	37	1	207785085	207785085	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:207785085C>T	uc001hfy.3	+	29	5149	c.5009C>T	c.(5008-5010)tCa>tTa	p.S1670L	CR1_uc001hfx.3_Missense_Mutation_p.S2120L|CR1_uc021pij.1_Missense_Mutation_p.S1670L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1670	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACAACTTTTCACCTGGGCAG	0.557000														43			48		0	0	0.000781405	0	0
CDKL2	8999	broad.mit.edu	37	4	76529007	76529007	+	Silent	SNP	T	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:76529007T>C	uc011cbp.2	-	5	1314	c.789A>G	c.(787-789)ttA>ttG	p.L263L	CDKL2_uc003hiq.3_Silent_p.L263L|CDKL2_uc010iix.1_Non-coding_Transcript	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	263	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTACCTTTGCTAAATCTATCA	0.333000														74			12		0	0	0.000422831	0	0
PRDM12	59335	broad.mit.edu	37	9	133553953	133553953	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:133553953G>A	uc004bzt.1	+	3	668	c.608G>A	c.(607-609)gGa>gAa	p.G203E		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	203	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GTGTGGTACGGAAACTCACAC	0.597000														39			22		0	0	0.000720815	0	0
NUP210	23225	broad.mit.edu	37	3	13363732	13363732	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:13363732C>T	uc003bxv.1	-	34	4959	c.4876G>A	c.(4876-4878)Gat>Aat	p.D1626N		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1626					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GTGAACACATCTTGAGATGGG	0.542000														63			34		0	0	0.000692331	0	0
DDR1	780	broad.mit.edu	37	6	30862422	30862422	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:30862422C>T	uc003nrv.3	+	9	1529	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	DDR1_uc010jse.3_Missense_Mutation_p.S496F|DDR1_uc003nrq.3_Missense_Mutation_p.S496F|DDR1_uc003nrr.3_Missense_Mutation_p.S496F|DDR1_uc003nrs.3_Missense_Mutation_p.S496F|DDR1_uc003nrt.3_Missense_Mutation_p.S496F|DDR1_uc011dms.2_Missense_Mutation_p.S514F|DDR1_uc003nru.3_Missense_Mutation_p.S496F|DDR1_uc003nry.2_Missense_Mutation_p.S496F|DDR1_uc003nrx.2_Missense_Mutation_p.P469S|DDR1_uc003nrw.1_Missense_Mutation_p.P268S	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	496	Gly/Pro-rich.		S -> A (in a lung squamous cell carcinoma sample; somatic mutation).		cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A496S(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCGCCCCACTCCGCTCCCTGT	0.587000														67			22		0	0	0.000586117	0	0
AGFG2	3268	broad.mit.edu	37	7	100160517	100160517	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:100160517C>T	uc003uvf.3	+	8	1255	c.1119C>T	c.(1117-1119)gcC>gcT	p.A373A		NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	373	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.A372V(1)|p.A372A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCCCGCCGCCCAGTCCCCGC	0.582000														13			8		0	0	0.000978159	0	0
PCDH18	54510	broad.mit.edu	37	4	138450971	138450971	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:138450971C>A	uc003ihe.4	-	0	2659	c.2272G>T	c.(2272-2274)Gac>Tac	p.D758Y	PCDH18_uc003ihf.4_Missense_Mutation_p.D751Y|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.D538Y|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	758					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AATGTGATGTCCCCTTTGTGA	0.498000														30			20		8.10497e-08	6.80728e-07	0.00152264	1	0
CKAP5	9793	broad.mit.edu	37	11	46839972	46839972	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:46839972G>A	uc001ndi.2	-	2	266	c.140C>T	c.(139-141)tCc>tTc	p.S47F	CKAP5_uc009ylg.1_5'UTR|CKAP5_uc001ndj.2_Missense_Mutation_p.S47F	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	47					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TAAAAATTTGGACCACTCTGG	0.373000														147			78		0	0	0.000781405	0	0
OR13D1	286365	broad.mit.edu	37	9	107457355	107457355	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:107457355A>T	uc011lvs.2	+	0	653	c.653A>T	c.(652-654)aAa>aTa	p.K218I		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GCCCTTCTAAAACTTGTTTGT	0.363000														71			37		0	0	0.00170553	0	0
BSND	7809	broad.mit.edu	37	1	55472797	55472797	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:55472797C>T	uc001cye.3	+	2	643	c.400C>T	c.(400-402)Cct>Tct	p.P134S		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	134						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CTTGCTGGCCCCTGAGATGGG	0.617000														29			5		0	0	0.000602214	0	0
ATXN2	6311	broad.mit.edu	37	12	111956089	111956089	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:111956089G>A	uc001tsj.3	-	8	1771	c.1609C>T	c.(1609-1611)Ccg>Tcg	p.P537S	ATXN2_uc001tsh.3_Missense_Mutation_p.P272S|ATXN2_uc001tsi.3_Missense_Mutation_p.P248S|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Missense_Mutation_p.P272S	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	537					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CCAGAATTCGGGTTGAAATCT	0.423000														56			25		0	0	0.00178596	0	0
ERC2	26059	broad.mit.edu	37	3	56053050	56053050	+	Silent	SNP	A	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:56053050A>G	uc021wzo.1	-	6	1791	c.1651T>C	c.(1651-1653)Ttg>Ctg	p.L551L	ERC2_uc003dhr.1_Silent_p.L551L|ERC2_uc003dht.1_Silent_p.L22L	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	551						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTTCTTGCAAGTTTTCAATC	0.338000														14			5		0	0	0.000602214	0	0
XAB2	56949	broad.mit.edu	37	19	7692252	7692252	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:7692252G>A	uc002mgx.3	-	3	425	c.399C>T	c.(397-399)ttC>ttT	p.F133F	C19orf79_uc021unv.1_5'Flank|C19orf79_uc010dvi.2_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	133					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GGGCACGGTCGAAGGTGCGGC	0.647000								Direct reversal of damage;Nucleotide excision repair (NER)						13			8		0	0	0.00136819	0	0
THSD7B	80731	broad.mit.edu	37	2	137814398	137814398	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:137814398C>T	uc002tva.1	+	1	455	c.455C>T	c.(454-456)tCt>tTt	p.S152F	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S42F	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTGTAGTATCTGAGTTCTTA	0.493000														95			73		0	0	0.000781405	0	0
ALOX5AP	241	broad.mit.edu	37	13	31338102	31338102	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:31338102G>A	uc010tdr.2	+	5	764	c.516G>A	c.(514-516)ggG>ggA	p.G172G	ALOX5AP_uc001utf.2_Silent_p.G115G	NM_001204406	NP_001191335	P20292	AL5AP_HUMAN	Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), transcript variant 2, mRNA.	115					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		ACATATTTGGGAAACGCATCA	0.403000														111			105		0	0	0.000781405	0	0
C10orf68	79741	broad.mit.edu	37	10	33140760	33140760	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:33140760C>T	uc001iwm.1	+	18	1898	c.1662C>T	c.(1660-1662)ccC>ccT	p.P554P	C10orf68_uc001iwl.1_Silent_p.P509P|C10orf68_uc001iwn.4_Silent_p.P550P|C10orf68_uc010qei.1_Silent_p.P526P|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	550										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACTCTTCACCCTATGTGACTG	0.343000														76			51		0	0	0.000781405	0	0
PI4K2A	55361	broad.mit.edu	37	10	99410889	99410889	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:99410889C>T	uc001kog.1	+	1	684	c.627C>T	c.(625-627)ccC>ccT	p.P209P	PI4K2A_uc010qoy.1_Silent_p.P179P|PI4K2A_uc009xvw.1_5'UTR	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	209	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		ACATTGTTCCCCGTACAAAGG	0.552000														21			6		0	0	0.000157383	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713883	30713883	+	Missense_Mutation	SNP	G	A	A	rs143095746	by1000genomes	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:30713883G>A	uc003ceo.3	+	3	1590	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	TGFBR2_uc021wut.1_Missense_Mutation_p.R281H|TGFBR2_uc003cen.3_Missense_Mutation_p.R428H	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	403	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CTTTCCCTGCGTCTGGACCCT	0.552000														114			82		0	0	0.000781405	0	0
CNTN5	53942	broad.mit.edu	37	11	100211269	100211269	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:100211269C>T	uc001pga.3	+	21	3309	c.2805C>T	c.(2803-2805)gtC>gtT	p.V935V	CNTN5_uc021qpb.1_Silent_p.V935V|CNTN5_uc021qpc.1_Silent_p.V861V|CNTN5_uc010ruk.2_Silent_p.V206V	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	935	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.F934F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTCTTTCGTCATCCTAACAG	0.433000														5			10		0	0	0.000673444	0	0
FBXL14	144699	broad.mit.edu	37	12	1675965	1675965	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:1675965C>T	uc001qjh.3	-	1	1305	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G		NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 14 (FBXL14), mRNA.	402						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			gagaaaaatcccctcgtgcct	0.532000														20			9		0	0	0.000442599	0	0
ARMCX5	64860	broad.mit.edu	37	X	101858400	101858400	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:101858400G>A	uc022cbb.1	+	0	1331	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	ARMCX5_uc004ejg.3_Missense_Mutation_p.G444E|ARMCX5_uc022caw.1_Missense_Mutation_p.G444E|ARMCX5_uc022cax.1_Missense_Mutation_p.G444E|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.G444E|ARMCX5_uc022cba.1_Missense_Mutation_p.G444E|ARMCX5_uc004ejh.3_Missense_Mutation_p.G444E	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	444							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TTAAACAAGGGAAGTGTCAAA	0.353000														67			31		0	0	0.000339439	0	0
NDST3	9348	broad.mit.edu	37	4	119145709	119145709	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:119145709G>C	uc003ibx.3	+	6	2006	c.1603G>C	c.(1603-1605)Gtt>Ctt	p.V535L	NDST3_uc011cgf.1_Missense_Mutation_p.V454L	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	535	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATATACATTTGTTAATCTGGC	0.413000														55			11		0	0	0.000673444	0	0
DST	667	broad.mit.edu	37	6	56499366	56499366	+	Missense_Mutation	SNP	G	A	A	rs141002593		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:56499366G>A	uc003pcy.4	-	11	1885	c.1777C>T	c.(1777-1779)Cgt>Tgt	p.R593C	DST_uc021zay.1_Missense_Mutation_p.R959C|DST_uc021zax.1_Missense_Mutation_p.R593C|DST_uc003pdc.4_Missense_Mutation_p.R593C|DST_uc003pdd.4_Missense_Mutation_p.R593C	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	919					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATTTAGCACGATGAGAGTTA	0.423000														31			49		0	0	0.000781405	0	0
LILRB1	10859	broad.mit.edu	37	19	55143588	55143588	+	Silent	SNP	G	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:55143588G>T	uc002qgj.3	+	5	901	c.561G>T	c.(559-561)gtG>gtT	p.V187V	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.V187V|LILRB1_uc002qgk.3_Silent_p.V187V|LILRB1_uc002qgm.3_Silent_p.V187V|LILRB1_uc010erq.3_Silent_p.V187V|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	187	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P186P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGGGCCCCGTGAGCCCGAGTC	0.587000										HNSCC(37;0.09)				49			21		1.10923e-09	9.34219e-09	0.000375601	1	0
SLC4A10	57282	broad.mit.edu	37	2	162738880	162738880	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:162738880C>T	uc002ubx.4	+	9	1304	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	SLC4A10_uc010fpa.1_Missense_Mutation_p.L386F|SLC4A10_uc010zcr.1_Intron|SLC4A10_uc010zcs.2_Missense_Mutation_p.L355F|SLC4A10_uc002uby.4_Missense_Mutation_p.L344F	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	374					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTGTTCATTCTTCTGGGACC	0.328000														10			9		0	0	0.000673444	0	0
MYLK	4638	broad.mit.edu	37	3	123452795	123452795	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:123452795C>T	uc003ego.3	-	9	1330	c.1048G>A	c.(1048-1050)Gca>Aca	p.A350T	MYLK_uc011bjw.2_Missense_Mutation_p.A350T|MYLK_uc003egp.3_Missense_Mutation_p.A350T|MYLK_uc003egq.3_Missense_Mutation_p.A350T|MYLK_uc003egr.3_Missense_Mutation_p.A350T|MYLK_uc003egs.3_Missense_Mutation_p.A174T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	350					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.A350T(2)|p.A350P(2)|p.A350S(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGAACTCTTGCGGCCTGCAGG	0.632000														77			21		0	0	0.00047179	0	0
OR52E2	119678	broad.mit.edu	37	11	5080083	5080083	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:5080083A>T	uc010qyw.2	-	0	775	c.775T>A	c.(775-777)Tcc>Acc	p.S259T		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTCATAAAGGAAAAGAGGGCT	0.473000														50			23		0	0	0.000375601	0	0
SMARCD3	6604	broad.mit.edu	37	7	150939873	150939874	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:150939873_150939874CC>TT	uc003wjs.3	-	3	490_491	c.389_390GG>AA	c.(388-390)agg>aAA	p.R130K	SMARCD3_uc003wjt.3_Missense_Mutation_p.R117K|SMARCD3_uc003wju.3_Missense_Mutation_p.R117K|SMARCD3_uc011kvh.1_Missense_Mutation_p.R130K|SMARCD3_uc010lqa.1_Missense_Mutation_p.R130K	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.	130					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATCCAGTTTCCTCTCAAATGC	0.579000														63			31		0	0	6.4e-05	0	0
ARHGAP19	84986	broad.mit.edu	37	10	99019293	99019293	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:99019293G>A	uc001knb.3	-	4	752	c.706C>T	c.(706-708)Cct>Tct	p.P236S	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.P227S|ARHGAP19_uc009xvj.3_Missense_Mutation_p.P236S|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Missense_Mutation_p.P30S	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	236	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TTAGGAGGAGGGAGAATGAGG	0.423000														48			30		0	0	0.00127121	0	0
TET1	80312	broad.mit.edu	37	10	70446152	70446152	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:70446152G>A	uc001jok.4	+	10	5597	c.5092G>A	c.(5092-5094)Gtt>Att	p.V1698I		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1698					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTCTTTGGGTGTTATTCCTCA	0.433000														57			34		0	0	0.00128727	0	0
LARP6	55323	broad.mit.edu	37	15	71125351	71125351	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:71125351G>A	uc002ass.3	-	2	587	c.516C>T	c.(514-516)ccC>ccT	p.P172P		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	172	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						ACAGTGGGACGGGGGTGGTCC	0.547000														25			6		0	0	0.00116845	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17948366	17948366	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:17948366G>A	uc001ban.3	+	10	1109	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.R278Q|ARHGEF10L_uc001bao.3_Missense_Mutation_p.R278Q|ARHGEF10L_uc001bap.3_Missense_Mutation_p.R278Q|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.R75Q|ARHGEF10L_uc001baq.3_Missense_Mutation_p.R83Q|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.R95Q|ARHGEF10L_uc001bar.3_Missense_Mutation_p.R95Q	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	317	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAGGTGGTCCGGAGGCATATC	0.587000														39			37		0	0	0.000781405	0	0
POLR3B	55703	broad.mit.edu	37	12	106890623	106890623	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:106890623G>A	uc001tlp.3	+	24	3133	c.2911G>A	c.(2911-2913)Gat>Aat	p.D971N	LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.D913N	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	971					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TAAAGTGAAGGATGTGTGTGA	0.522000														27			15		0	0	0.000566183	0	0
OR52R1	119695	broad.mit.edu	37	11	4824842	4824842	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:4824842G>A	uc021qcs.1	-	0	769	c.769C>T	c.(769-771)Cca>Tca	p.P257S		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAAGGGCTGGGATATAAAGA	0.483000														47			26		0	0	0.000720815	0	0
XPO6	23214	broad.mit.edu	37	16	28112887	28112887	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:28112887G>A	uc002dpa.1	-	22	3669	c.3168C>T	c.(3166-3168)gtC>gtT	p.V1056V	XPO6_uc002dpb.1_Silent_p.V1042V|XPO6_uc010vcp.1_Silent_p.V1055V	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	1056					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CATCAAAGTCGACTGAGGCCA	0.532000														18			15		0	0	0.000308642	0	0
IFNA7	3444	broad.mit.edu	37	9	21201733	21201733	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:21201733C>T	uc003zop.1	-	0	472	c.432G>A	c.(430-432)agG>agA	p.R144R	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	144					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAAGTATTTCCTCACAGCCA	0.448000														156			74		0	0	0.000781405	0	0
R3HDM1	23518	broad.mit.edu	37	2	136409326	136409326	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:136409326C>T	uc002tuo.3	+	16	2017	c.1647C>T	c.(1645-1647)agC>agT	p.S549S	R3HDM1_uc010fni.3_Silent_p.S548S|R3HDM1_uc002tup.3_Silent_p.S494S|R3HDM1_uc010zbh.2_Silent_p.S297S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	549							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTCAGTTTAGCCACATGAGTC	0.453000														102			60		0	0	0.000781405	0	0
TPH2	121278	broad.mit.edu	37	12	72335485	72335485	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:72335485G>A	uc009zrw.1	+	1	368	c.227G>A	c.(226-228)gGa>gAa	p.G76E	TPH2_uc001swy.2_5'UTR	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	76	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GAAGTTGGTGGATTGGTAAAA	0.418000														54			21		0	0	0.000295444	0	0
ASXL3	80816	broad.mit.edu	37	18	31251810	31251810	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:31251810G>A	uc010dmg.1	+	6	750	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACTTAAAACGATTAAAAAAG	0.313000														24			9		0	0	0.000442599	0	0
PIK3R4	30849	broad.mit.edu	37	3	130398288	130398288	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:130398288G>A	uc003enj.3	-	19	4529	c.3948C>T	c.(3946-3948)acC>acT	p.T1316T		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	1316					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCCTTCGAGGGGTGTCATCAC	0.483000														59			27		0	0	0.000491102	0	0
LRRC18	474354	broad.mit.edu	37	10	50121505	50121505	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:50121505C>T	uc001jhd.3	-	0	776	c.696G>A	c.(694-696)ccG>ccA	p.P232P	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.P232P	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	232						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TGGTCTTTCTCGGTGTCGTCG	0.527000														70			35		0	0	0.00058488	0	0
ALAD	210	broad.mit.edu	37	9	116153860	116153860	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:116153860C>T	uc011lxf.2	-	3	410	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	ALAD_uc011lxe.2_Missense_Mutation_p.E53K|ALAD_uc004bhl.4_Missense_Mutation_p.E99K	NM_000031	NP_000022	P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	70					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	AGGCCCTCTTCCACCAAGGGC	0.587000														27			13		0	0	0.00074312	0	0
CBX6	23466	broad.mit.edu	37	22	39263083	39263084	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr22:39263083_39263084GG>AA	uc003awl.3	-	4	432_433	c.369_370CC>TT	c.(367-372)atccgc>atTTgc	p.R124C		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	124					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TGGCAGCGGCGGATGTCCTTCT	0.693000														6			5		0	0	6.4e-05	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6428212	6428212	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:6428212C>T	uc001qnr.3	+	12	1610	c.1462C>T	c.(1462-1464)Ctt>Ttt	p.L488F	PLEKHG6_uc010sew.2_Missense_Mutation_p.L488F|PLEKHG6_uc010sex.2_Missense_Mutation_p.L456F	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	488	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CAGCGCCCTCCTTGTGCACTG	0.587000														11			6		0	0	0.000274275	0	0
PCMTD2	55251	broad.mit.edu	37	20	62891515	62891515	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:62891515C>T	uc002yil.4	+	1	397	c.197C>T	c.(196-198)cCg>cTg	p.P66L	PCMTD2_uc002yim.4_Missense_Mutation_p.P66L	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	66						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTCTCAGCCCCGTGCATCTAC	0.488000														49			31		0	0	0.000491102	0	0
ABI1	10006	broad.mit.edu	37	10	27052880	27052880	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:27052880G>A	uc001isx.3	-	7	1054	c.830C>T	c.(829-831)tCt>tTt	p.S277F	ABI1_uc001itb.3_Missense_Mutation_p.S294F|ABI1_uc001ite.3_Intron|ABI1_uc010qdh.2_Intron|ABI1_uc010qdi.2_Intron|ABI1_uc001itc.3_Intron|ABI1_uc001isy.3_Intron|ABI1_uc001itd.3_Intron|ABI1_uc010qdj.2_Intron|ABI1_uc001ita.3_Intron|ABI1_uc010qdk.2_Intron|ABI1_uc001isz.3_Intron|ABI1_uc010qdg.2_Intron	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA.	277	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGAGGGACAGAAATGTTTTC	0.423000														49			19		0	0	0.00121646	0	0
C4BPA	722	broad.mit.edu	37	1	207307851	207307851	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:207307851C>T	uc001hfo.3	+	8	1381	c.1187C>T	c.(1186-1188)tCa>tTa	p.S396L		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	396	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GATGAGATTTCATTTTCATGT	0.423000														37			75		0	0	0.000781405	0	0
OR51B2	79345	broad.mit.edu	37	11	5344634	5344634	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:5344634T>G	uc001mao.1	-	0	949	c.894A>C	c.(892-894)caA>caC	p.Q298H	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAATGCCATATTGTATTTGCT	0.373000														35			19		0	0	0.000375601	0	0
TRPV6	55503	broad.mit.edu	37	7	142583185	142583185	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:142583185C>T	uc003wbx.2	-	0	306	c.77G>A	c.(76-78)cGg>cAg	p.R26Q		NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	26					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCAGGACTCCCGTCTCTGGAA	0.612000														48			43		0	0	0.000509022	0	0
CCDC28A	25901	broad.mit.edu	37	6	139113921	139113921	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:139113921C>G	uc003qie.3	+	5	961	c.806C>G	c.(805-807)cCa>cGa	p.P269R		NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	269										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CAAGATGTTCCAAATACTTCT	0.338000														31			24		0	0	0.00106085	0	0
KCNB1	3745	broad.mit.edu	37	20	47990233	47990233	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:47990233G>A	uc002xur.1	-	1	2030	c.1864C>T	c.(1864-1866)Cca>Tca	p.P622S	KCNB1_uc002xus.1_Missense_Mutation_p.P622S	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	622					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCACTTCTGGGGCTGTGCTG	0.587000														21			12		0	0	0.000978159	0	0
DQX1	165545	broad.mit.edu	37	2	74751370	74751370	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:74751370C>T	uc010yrw.2	-	3	661	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	DQX1_uc002smc.3_5'Flank	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	166	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGTACCAGCACGCCCCAGGCT	0.602000														38			33		0	0	0.000814825	0	0
MYO18B	84700	broad.mit.edu	37	22	26343678	26343678	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr22:26343678G>A	uc003abz.1	+	36	5882	c.5632_splice	c.e36-1	p.V1878_splice	MYO18B_uc003aca.1_Splice_Site_p.V1759_splice|MYO18B_uc010guy.1_Splice_Site_p.V1760_splice|MYO18B_uc010guz.1_Splice_Site_p.V1758_splice|MYO18B_uc011aka.1_Splice_Site_p.V1032_splice|MYO18B_uc011akb.1_Splice_Site_p.V1391_splice	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1878	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTCCCCCAGGTGGATGAGCA	0.567000														11			4		0	0	0.000602214	0	0
IL1RL1	9173	broad.mit.edu	37	2	102957281	102957281	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:102957281G>A	uc002tbu.1	+	4	874	c.603G>A	c.(601-603)acG>acA	p.T201T	IL1RL1_uc010ywa.2_Silent_p.T84T|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.T201T	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	201					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGTCCTTCACGGTCAAGGGTA	0.443000														25			6		0	0	0.000157383	0	0
ZBED1	9189	broad.mit.edu	37	X	2408217	2408217	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:2408217C>T	uc022brx.1	-	0	544	c.544G>A	c.(544-546)Gag>Aag	p.E182K	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.E182K|ZBED1_uc004cqg.2_Missense_Mutation_p.E182K|ZBED1_uc022brw.1_Missense_Mutation_p.E182K	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	182						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGATCACCTCCCGGACGGCC	0.632000														83			30		0	0	0.000339439	0	0
DOCK3	1795	broad.mit.edu	37	3	51418834	51418834	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:51418834C>T	uc011bds.2	+	52	5960	c.5937C>T	c.(5935-5937)caC>caT	p.H1979H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1979						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCCCTACCACCCCCGCCTGC	0.687000														7			7		0	0	0.000157383	0	0
DNAH8	1769	broad.mit.edu	37	6	38690646	38690646	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:38690646G>A	uc021yzh.1	+	1	170	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCCTCTACGGAAGAGGCTGC	0.602000														8			23		0	0	0.00047179	0	0
ERAP2	64167	broad.mit.edu	37	5	96253210	96253210	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:96253210G>A	uc003kmq.3	+	18	3494	c.2784G>A	c.(2782-2784)ctG>ctA	p.L928L	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.L928L|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.L877L|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	928					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GATCACATCTGGATATTTTTC	0.353000														61			37		0	0	0.000437636	0	0
CNTN5	53942	broad.mit.edu	37	11	100064354	100064354	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:100064354G>A	uc001pga.3	+	14	2347	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	CNTN5_uc009ywv.2_Missense_Mutation_p.D615N|CNTN5_uc001pfz.3_Missense_Mutation_p.D615N|CNTN5_uc021qpb.1_Missense_Mutation_p.D615N|CNTN5_uc021qpc.1_Missense_Mutation_p.D541N|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	615	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGCCTATTGATTTCGAGGA	0.368000														53			37		0	0	0.000680045	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841904	208841904	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:208841904G>A	uc002vcl.2	-	2	1507	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	PLEKHM3_uc002vcm.2_Silent_p.F339F	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	339					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTTCTTCTGGAAACTATGAT	0.522000														69			19		0	0	0.00152264	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490176	37490176	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:37490176C>A	uc021ppc.1	+	30	2723	c.2624C>A	c.(2623-2625)aCt>aAt	p.T875N	ANKRD30A_uc001iza.1_Missense_Mutation_p.T875N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	931						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTCCGTGAGACTGTTTCACAG	0.274000														82			21		5.26018e-13	4.46747e-12	0.00188189	1	0
ENPEP	2028	broad.mit.edu	37	4	111474533	111474533	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:111474533G>A	uc003iab.4	+	17	2906	c.2564G>A	c.(2563-2565)cGa>cAa	p.R855Q		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	855					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.R855Q(2)|p.R855*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACAGTCATTCGATATATCTCA	0.393000														64			31		0	0	0.00178596	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594218	136594218	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:136594218C>T	uc003yuv.3	+	5	1103	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	KHDRBS3_uc003yuw.3_Missense_Mutation_p.R237W|KHDRBS3_uc010mek.3_Non-coding_Transcript	NM_006558	NP_006549	O75525	KHDR3_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.	237	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GCCAGTGAGTCGGGGAAGAGG	0.602000														27			34		0	0	0.000339439	0	0
WIPF1	7456	broad.mit.edu	37	2	175446110	175446111	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:175446110_175446111GG>AA	uc002uiz.3	-	2	208_209	c.108_109CC>TT	c.(106-111)ctcctt>ctTTtt	p.L37F	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.L37F|WIPF1_uc010fqt.1_Missense_Mutation_p.L37F|WIPF1_uc002ujc.1_Missense_Mutation_p.L37F|WIPF1_uc002ujb.2_Missense_Mutation_p.L37F|WIPF1_uc010zep.1_Missense_Mutation_p.L37F	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	37	WH2.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ATATCAGAAAGGAGAGCATTTC	0.431000														90			38		0	0	6.4e-05	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452365	234452365	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:234452365C>T	uc001hvy.1	+	4	991	c.846C>T	c.(844-846)ctC>ctT	p.L282L	SLC35F3_uc001hwa.1_Silent_p.L213L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	213					transport	integral to membrane		p.L282I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCGCCATCCTCGCCATCGCTG	0.577000														111			243		0	0	0.000781405	0	0
USP9X	8239	broad.mit.edu	37	X	41055614	41055614	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:41055614T>G	uc004dfb.3	+	27	4719	c.4086_splice	c.e27+2	p.G1362_splice	USP9X_uc004dfc.3_Splice_Site_p.G1362_splice	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1362					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTTTTGGGGGTGAGACTTTTT	0.378000														66			44		0	0	0.000589545	0	0
C1orf173	127254	broad.mit.edu	37	1	75039077	75039077	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:75039077C>T	uc001dgg.3	-	13	2536	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	773	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCATTGCTTCTTTCTTCTCC	0.473000														39			41		0	0	0.000781405	0	0
TMEM182	130827	broad.mit.edu	37	2	103431399	103431399	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:103431399T>C	uc010fjb.3	+	4	849	c.662T>C	c.(661-663)gTt>gCt	p.V221A	TMEM182_uc002tcc.4_Missense_Mutation_p.V178A|TMEM182_uc002tcd.4_Missense_Mutation_p.V125A|TMEM182_uc010ywe.2_Non-coding_Transcript	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	221						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTTCTGGTTGTTGGATGGCAT	0.373000														32			9		0	0	0.000978159	0	0
NEO1	4756	broad.mit.edu	37	15	73593717	73593717	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:73593717G>A	uc002avm.4	+	27	4413	c.4221G>A	c.(4219-4221)agG>agA	p.R1407R	NEO1_uc010ukx.2_Silent_p.R1396R|NEO1_uc010uky.2_Silent_p.R1354R|NEO1_uc002avn.4_Silent_p.R1400R|NEO1_uc010ukz.2_Silent_p.R820R	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1407					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCTAGGAAGGAGCCGGCCTC	0.567000														19			8		0	0	0.000673444	0	0
JUP	3728	broad.mit.edu	37	17	39928022	39928022	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:39928022C>T	uc002hxq.2	-	1	362	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	JUP_uc010wfs.2_Missense_Mutation_p.G29S|JUP_uc002hxr.2_Missense_Mutation_p.G29S|JUP_uc002hxs.2_Missense_Mutation_p.G29S	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	29					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GTGTTGGCGCCCGAGTGGATA	0.597000														10			6		0	0	0.00116845	0	0
SLC2A14	144195	broad.mit.edu	37	12	7984358	7984358	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:7984358G>A	uc010sgh.2	-	2	249	c.228C>T	c.(226-228)atC>atT	p.I76I	SLC2A14_uc001qtk.3_Silent_p.I61I|SLC2A14_uc001qtl.3_Silent_p.I38I|SLC2A14_uc001qtm.3_Silent_p.I38I|SLC2A14_uc010sgg.2_Intron|SLC2A14_uc001qtn.3_Silent_p.I61I|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	61					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.I61I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATTCCTTTATGATCTGCAAAA	0.443000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			16		0	0	0.00121646	0	0
TRMT2B	79979	broad.mit.edu	37	X	100292915	100292915	+	Silent	SNP	A	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:100292915A>T	uc004egt.3	-	4	842	c.429T>A	c.(427-429)atT>atA	p.I143I	TRMT2B_uc004egu.3_Silent_p.I24I|TRMT2B_uc004egr.3_Silent_p.I143I|TRMT2B_uc004egv.3_Intron|TRMT2B_uc004egq.3_Silent_p.I143I|TRMT2B_uc004egs.3_Silent_p.I143I	NM_001167970	NP_079193	Q96GJ1	TRM2_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) (TRMT2B), transcript variant 2, mRNA.	143							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CAGAGGGTATAATAGGATGGA	0.438000														155			122		0	0	0.000781405	0	0
DDB1	1642	broad.mit.edu	37	11	61083814	61083814	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:61083814G>A	uc001nrc.4	-	11	1579	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.F451F|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Silent_p.F451F	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	451	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GATCATCCACGAAACCCATCA	0.502000								Nucleotide excision repair (NER)						96			68		0	0	0.000781405	0	0
PTPN14	5784	broad.mit.edu	37	1	214551323	214551323	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:214551323G>A	uc001hkk.2	-	13	3320	c.2667C>T	c.(2665-2667)acC>acT	p.T889T	PTPN14_uc021piy.1_Silent_p.T653T|PTPN14_uc010pty.2_Silent_p.T790T	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	889					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGGAACCCGGGTGGCATCAA	0.562000														79			13		0	0	0.00185496	0	0
CYP27C1	339761	broad.mit.edu	37	2	127956997	127956997	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:127956997C>T	uc002tod.2	-	3	638	c.507G>A	c.(505-507)gaG>gaA	p.E169E	CYP27C1_uc021vnn.1_Silent_p.E169E	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	169						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TGGCGTAGATCTCCTGCAGCG	0.577000														37			13		0	0	0.00136819	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761575	13761575	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:13761575C>T	uc001rbt.2	-	8	2151	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	658					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCACATATTCCTCTTGGATC	0.498000														26			9		0	0	0.000673444	0	0
CDH6	1004	broad.mit.edu	37	5	31299714	31299714	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:31299714G>A	uc003jhe.2	+	4	1147	c.787G>A	c.(787-789)Gac>Aac	p.D263N	CDH6_uc003jhd.2_Missense_Mutation_p.D263N	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	263	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D263V(1)|p.N262N(1)		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						TGATGTCAACGACAACCCTCC	0.438000														27			20		0	0	0.000586117	0	0
QTRT1	81890	broad.mit.edu	37	19	10812143	10812143	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:10812143G>A	uc002mpr.3	+	0	32	c.7G>A	c.(7-9)Gga>Aga	p.G3R		NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	3					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CAAGATGGCGGGAGCAGCTAC	0.697000														10			4		0	0	0.00024832	0	0
MUC16	94025	broad.mit.edu	37	19	9063573	9063573	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:9063573G>A	uc002mkp.3	-	2	24077	c.23873C>T	c.(23872-23874)tCa>tTa	p.S7958L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7960	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCATCCATGATACATCCTC	0.453000														40			20		0	0	0.000958276	0	0
FAAH2	158584	broad.mit.edu	37	X	57515239	57515239	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:57515239G>A	uc004dvc.3	+	10	1622	c.1473G>A	c.(1471-1473)ctG>ctA	p.L491L		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	491						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CACTGGGACTGAATGCCAAAG	0.488000										HNSCC(52;0.14)				24			13		0	0	0.00136819	0	0
MPPED2	744	broad.mit.edu	37	11	30516965	30516965	+	Silent	SNP	G	A	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:30516965G>A	uc001msr.3	-	2	535	c.414C>T	c.(412-414)ttC>ttT	p.F138F	MPPED2_uc001msq.3_Silent_p.F138F|MPPED2_uc009yji.3_Silent_p.F12F	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	138					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ACACAGAGGGGAAACGGTAGT	0.403000														41			18		0	0	0.00121646	0	0
CACNG3	10368	broad.mit.edu	37	16	24358083	24358083	+	Silent	SNP	C	T	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:24358083C>T	uc002dmf.3	+	1	1442	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	80					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAAGAAAATCGATCACTTCC	0.582000														9			14		0	0	0.00152264	0	0
RGS12	6002	broad.mit.edu	37	4	3432408	3432408	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:3432408delC	uc003ggw.3	+	16	4744	c.3840delC	c.(3838-3840)agcfs	p.S1280fs	RGS12_uc003ggv.3_Frame_Shift_Del_p.S1280fs|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Frame_Shift_Del_p.S632fs|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Frame_Shift_Del_p.S622fs|RGS12_uc010icv.3_Frame_Shift_Del_p.S479fs	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1280						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGCCTCCAGCCCCCCTGGAC	0.741													---	4	---	---	2	---					
OR13C8	138802	broad.mit.edu	37	9	107331747	107331747	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:107331747delA	uc011lvo.2	+	0	299	c.299delA	c.(298-300)caafs	p.Q100fs		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGTATGGTGCAAATGTTTATT	0.493													---	105	---	---	46	---					
